{"count":36026,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=345","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=343","results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8853","gene_name":"peroxisomal biogenesis factor 11 beta","omim_gene":["603867"],"alias_name":null,"gene_symbol":"PEX11B","hgnc_symbol":"PEX11B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:145516252-145523730","ensembl_id":"ENSG00000131779"}},"GRch38":{"90":{"location":"1:145911350-145918837","ensembl_id":"ENSG00000131779"}}},"hgnc_date_symbol_changed":"1998-11-11"},"entity_type":"gene","entity_name":"PEX11B","confidence_level":"1","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["22581968"],"evidence":["Expert Review Red","Literature"],"phenotypes":["?Peroxisome biogenesis disorder 14B\t(MIM#614920)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":18,"hash_id":null,"name":"Polymicrogyria and Schizencephaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nPlease consider the broader 'Malformations of cortical development' superpanel, particularly in the presence of complex or atypical imaging findings.","status":"public","version":"0.204","version_created":"2025-12-18T09:49:46.643708+11:00","relevant_disorders":["Polymicrogyria","HP:0002126;Schizencephaly","HP:0010636"],"stats":{"number_of_genes":88,"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":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["76P","FLJ14797"],"biotype":"protein_coding","hgnc_id":"HGNC:16691","gene_name":"tubulin gamma complex associated protein 4","omim_gene":["609610"],"alias_name":null,"gene_symbol":"TUBGCP4","hgnc_symbol":"TUBGCP4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:43661419-43699293","ensembl_id":"ENSG00000137822"}},"GRch38":{"90":{"location":"15:43369221-43409771","ensembl_id":"ENSG00000137822"}}},"hgnc_date_symbol_changed":"2007-08-20"},"entity_type":"gene","entity_name":"TUBGCP4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["25817018","32270730"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":["Microcephaly and chorioretinopathy, autosomal recessive, 3 (MIM#616335)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":21,"hash_id":null,"name":"Tubulinopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nTubulinopathies refer to a wide spectrum of cortical malformations that result from defects in genes encoding the tubulin protein that regulates neuronal migration during brain development.\r\n\r\nBrain malformations include:\r\n-A range of lissencephalies (classic lissencephaly, lissencephaly with cerebellar hypoplasia, lissencephaly with agenesis of the corpus callosum, and centrally predominant pachygyria),\r\n-Polymicrogyria-like cortical dysplasia,\r\n-Simplified gyral pattern, and\r\n-Microlissencephaly often in combination with dysplastic basal ganglia, corpus callosum abnormalities, and hypoplasia or dysplasia of the brain stem and cerebellum.\r\n\r\nClinical features include motor and intellectual disabilities, epilepsy, and ocular findings of varying severity.\r\n\r\nWhere imaging and clinical features are less specific, consider applying the Malformations of Cortical Development superpanel.","status":"public","version":"1.2","version_created":"2024-09-11T12:06:06.122951+10:00","relevant_disorders":["Abnormal cortical gyration","HP:0002536"],"stats":{"number_of_genes":9,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11140","gene_name":"synuclein beta","omim_gene":["602569"],"alias_name":["β-synuclein"],"gene_symbol":"SNCB","hgnc_symbol":"SNCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:176047085-176057530","ensembl_id":"ENSG00000074317"}},"GRch38":{"90":{"location":"5:176620084-176630556","ensembl_id":"ENSG00000074317"}}},"hgnc_date_symbol_changed":"1995-03-03"},"entity_type":"gene","entity_name":"SNCB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["15365127","20697047"],"evidence":["Expert Review Red","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Dementia, Lewy body, MIM#127750"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"panel":{"id":24,"hash_id":null,"name":"Early-onset Dementia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause frontotemporal dementia (FTD), Alzheimer's disease, other forms of dementia, and adult-onset cognitive decline. It is currently maintained by VCGS and RMH. The base panel (17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"1.58","version_created":"2026-03-31T16:43:37.497568+11:00","relevant_disorders":["Cognitive impairment","HP:0100543"],"stats":{"number_of_genes":96,"number_of_strs":6,"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"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0720","Syx","GEF720","Tech"],"biotype":"protein_coding","hgnc_id":"HGNC:29105","gene_name":"pleckstrin homology and RhoGEF domain containing G5","omim_gene":["611101"],"alias_name":["synectin-binding guanine exchange factor"],"gene_symbol":"PLEKHG5","hgnc_symbol":"PLEKHG5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:6526152-6580121","ensembl_id":"ENSG00000171680"}},"GRch38":{"90":{"location":"1:6466092-6520061","ensembl_id":"ENSG00000171680"}}},"hgnc_date_symbol_changed":"2005-08-09"},"entity_type":"gene","entity_name":"PLEKHG5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["17564964"],"evidence":["Expert Review Red","Royal Melbourne Hospital","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":25,"hash_id":null,"name":"Motor Neurone Disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"1.48","version_created":"2026-03-31T16:37:58.241144+11:00","relevant_disorders":[],"stats":{"number_of_genes":79,"number_of_strs":4,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HUS","FHL1","ARMS1","ARMD4"],"biotype":"protein_coding","hgnc_id":"HGNC:4883","gene_name":"complement factor H","omim_gene":["134370"],"alias_name":["beta-1H","H factor 2 (complement)","age-related maculopathy susceptibility 1"],"gene_symbol":"CFH","hgnc_symbol":"CFH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:196621008-196716634","ensembl_id":"ENSG00000000971"}},"GRch38":{"90":{"location":"1:196651878-196747504","ensembl_id":"ENSG00000000971"}}},"hgnc_date_symbol_changed":"2004-08-12"},"entity_type":"gene","entity_name":"CFH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Complement factor H deficiency, MIM#609814"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":39,"hash_id":null,"name":"Haematuria_Alport","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panels is intended for use in individuals presenting predominantly with haematuria and/or other features strongly suggestive of Alport syndrome. MBS funding is available for testing of the COL4A3, COL4A4 and COL4A5 genes.\r\n\r\nWhere the clinical presentation is less specific but still strongly suggestive of monogenic glomerular disease, please consider using the broader Renal Glomerular Disease panel.\r\n\r\nThis is a consensus panel used by the KidGen Collaborative, VCGS and RMH. 09/01/2020: This panel has been compared with the Genomics England PanelApp Haematuria panel; no discrepancies were identified.","status":"public","version":"1.2","version_created":"2025-06-05T02:00:04.228914+10:00","relevant_disorders":["Hematuria","HP:0000790; Proteinuria","HP:0000093"],"stats":{"number_of_genes":16,"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":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ22259","DKFZp686I14213"],"biotype":"protein_coding","hgnc_id":"HGNC:2203","gene_name":"collagen type IV alpha 2 chain","omim_gene":["120090"],"alias_name":["canstatin","collagen type IV alpha 2"],"gene_symbol":"COL4A2","hgnc_symbol":"COL4A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:110958159-111165374","ensembl_id":"ENSG00000134871"}},"GRch38":{"90":{"location":"13:110305812-110513027","ensembl_id":"ENSG00000134871"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL4A2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Brain small vessel disease 2, MIM#614483"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":39,"hash_id":null,"name":"Haematuria_Alport","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panels is intended for use in individuals presenting predominantly with haematuria and/or other features strongly suggestive of Alport syndrome. MBS funding is available for testing of the COL4A3, COL4A4 and COL4A5 genes.\r\n\r\nWhere the clinical presentation is less specific but still strongly suggestive of monogenic glomerular disease, please consider using the broader Renal Glomerular Disease panel.\r\n\r\nThis is a consensus panel used by the KidGen Collaborative, VCGS and RMH. 09/01/2020: This panel has been compared with the Genomics England PanelApp Haematuria panel; no discrepancies were identified.","status":"public","version":"1.2","version_created":"2025-06-05T02:00:04.228914+10:00","relevant_disorders":["Hematuria","HP:0000790; Proteinuria","HP:0000093"],"stats":{"number_of_genes":16,"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":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["H2","H3","H4","H5","CEK","FLG","BFGFR","N-SAM","CD331"],"biotype":"protein_coding","hgnc_id":"HGNC:3688","gene_name":"fibroblast growth factor receptor 1","omim_gene":["136350"],"alias_name":["Pfeiffer syndrome"],"gene_symbol":"FGFR1","hgnc_symbol":"FGFR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:38268656-38326352","ensembl_id":"ENSG00000077782"}},"GRch38":{"90":{"location":"8:38411138-38468834","ensembl_id":"ENSG00000077782"}}},"hgnc_date_symbol_changed":"1992-02-25"},"entity_type":"gene","entity_name":"FGFR1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Red"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":63,"hash_id":null,"name":"Congenital anomalies of the kidney and urinary tract (CAKUT)","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel contains genes associated with nonsyndromic and syndromic congenital anomalies of the kidney and urinary tract (CAKUT).","status":"public","version":"0.204","version_created":"2026-03-19T13:24:30.325727+11:00","relevant_disorders":["Abnormality of the urinary system HP:0000079"],"stats":{"number_of_genes":124,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["QRF1","12CC4","HSPC215","hFKH1B"],"biotype":"protein_coding","hgnc_id":"HGNC:3823","gene_name":"forkhead box P1","omim_gene":["605515"],"alias_name":["fork head-related protein like B","glutamine-rich factor 1","PAX5/FOXP1 fusion protein"],"gene_symbol":"FOXP1","hgnc_symbol":"FOXP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:71003844-71633140","ensembl_id":"ENSG00000114861"}},"GRch38":{"90":{"location":"3:70954693-71583989","ensembl_id":"ENSG00000114861"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"FOXP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["26633542","28741757"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Mental retardation with language impairment and with or without autistic features, MIM# 613670"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":72,"hash_id":null,"name":"Cerebellar and Pontocerebellar Hypoplasia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the panels used by VCGS and RMH and is a consensus panel maintained by both.","status":"public","version":"1.100","version_created":"2026-04-02T11:42:58.167964+11:00","relevant_disorders":["Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879"],"stats":{"number_of_genes":122,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2860","gene_name":"7-dehydrocholesterol reductase","omim_gene":["602858"],"alias_name":null,"gene_symbol":"DHCR7","hgnc_symbol":"DHCR7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:71139239-71163914","ensembl_id":"ENSG00000172893"}},"GRch38":{"90":{"location":"11:71428193-71452868","ensembl_id":"ENSG00000172893"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"DHCR7","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Smith-Lemli-Opitz syndrome, MIM#270400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11605","gene_name":"T-box 6","omim_gene":["602427"],"alias_name":null,"gene_symbol":"TBX6","hgnc_symbol":"TBX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:30097114-30103208","ensembl_id":"ENSG00000149922"}},"GRch38":{"90":{"location":"16:30085793-30091887","ensembl_id":"ENSG00000149922"}}},"hgnc_date_symbol_changed":"1998-08-10"},"entity_type":"gene","entity_name":"TBX6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Spondylocostal dysostosis 5, MIM#122600"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10808","gene_name":"sarcoglycan epsilon","omim_gene":["604149"],"alias_name":null,"gene_symbol":"SGCE","hgnc_symbol":"SGCE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:94214542-94285521","ensembl_id":"ENSG00000127990"}},"GRch38":{"90":{"location":"7:94585230-94656209","ensembl_id":"ENSG00000127990"}}},"hgnc_date_symbol_changed":"1999-01-11"},"entity_type":"gene","entity_name":"SGCE","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Dystonia-11, myoclonic, MIM#159900"],"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":["Kv10.1","eag","h-eag","eag1"],"biotype":"protein_coding","hgnc_id":"HGNC:6250","gene_name":"potassium voltage-gated channel subfamily H member 1","omim_gene":["603305"],"alias_name":null,"gene_symbol":"KCNH1","hgnc_symbol":"KCNH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:210856555-211307457","ensembl_id":"ENSG00000143473"}},"GRch38":{"90":{"location":"1:210676823-211134180","ensembl_id":"ENSG00000143473"}}},"hgnc_date_symbol_changed":"1993-03-22"},"entity_type":"gene","entity_name":"KCNH1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Temple-Baraitser syndrome, MIM#611816","Zimmermann-Laband syndrome 1, MIM#135500"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:870","gene_name":"ATPase copper transporting beta","omim_gene":["606882"],"alias_name":["Wilson disease","copper pump 2","copper-transporting ATPase 2"],"gene_symbol":"ATP7B","hgnc_symbol":"ATP7B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:52506809-52585630","ensembl_id":"ENSG00000123191"}},"GRch38":{"90":{"location":"13:51930436-52012125","ensembl_id":"ENSG00000123191"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ATP7B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["34788679"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Wilson disease MIM#277900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":103,"hash_id":null,"name":"Fatty Acid Oxidation Defects","disease_group":"Metabolic disorders","disease_sub_group":"","description":"Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism caused by disruption of either mitochondrial β-oxidation or the fatty acid transport using the carnitine transport pathway. The clinical presentation of a FAOD depends on the specific disorder, but commonly includes cardiomyopathy in the newborn period, liver dysfunction and hypoketotic hypoglycaemia during infancy and childhood, and episodic rhabdomyolysis during or after adolescence.\r\n\r\nThis panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt incorporates assessments by the ClinGen Fatty Acid Oxidation Disorders Working Group, McGlaughon et al 2019, PMID: 31399326.","status":"public","version":"1.15","version_created":"2025-11-20T16:48:15.748218+11:00","relevant_disorders":["Abnormal circulating fatty acid concentration","HP:0004359; Rhabdomyolysis","HP:0003201; Hypoglycaemia","HP:0001943"],"stats":{"number_of_genes":33,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FPR","FMLP"],"biotype":"protein_coding","hgnc_id":"HGNC:3826","gene_name":"formyl peptide receptor 1","omim_gene":["136537"],"alias_name":null,"gene_symbol":"FPR1","hgnc_symbol":"FPR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:52248425-52307363","ensembl_id":"ENSG00000171051"}},"GRch38":{"90":{"location":"19:51745172-51804110","ensembl_id":"ENSG00000171051"}}},"hgnc_date_symbol_changed":"1991-06-05"},"entity_type":"gene","entity_name":"FPR1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29105764","28371599"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Periodontitis"],"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":"1.4723","version_created":"2026-04-06T18:01:52.429035+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":["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":["21802064","25322899","33675863"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["46XY sex reversal 8, MIM# 614279","Obesity"],"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":"1.4723","version_created":"2026-04-06T18:01:52.429035+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":["DC-SIGN","CDSIGN","DC-SIGN1","CLEC4L"],"biotype":"protein_coding","hgnc_id":"HGNC:1641","gene_name":"CD209 molecule","omim_gene":["604672"],"alias_name":null,"gene_symbol":"CD209","hgnc_symbol":"CD209","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:7804879-7812464","ensembl_id":"ENSG00000090659"}},"GRch38":{"90":{"location":"19:7739994-7747564","ensembl_id":"ENSG00000090659"}}},"hgnc_date_symbol_changed":"2000-07-19"},"entity_type":"gene","entity_name":"CD209","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{Dengue fever, protection against} MIM#614371","{HIV type 1, susceptibility to} MIM#609423","{Mycobacterium tuberculosis, susceptibility to} MIM#607948"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4723","version_created":"2026-04-06T18:01:52.429035+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":["ERBB1"],"biotype":"protein_coding","hgnc_id":"HGNC:3236","gene_name":"epidermal growth factor receptor","omim_gene":["131550"],"alias_name":["erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)","erb-b2 receptor tyrosine kinase 1"],"gene_symbol":"EGFR","hgnc_symbol":"EGFR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:55086714-55324313","ensembl_id":"ENSG00000146648"}},"GRch38":{"90":{"location":"7:55019021-55211628","ensembl_id":"ENSG00000146648"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"EGFR","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24691054"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Inflammatory skin and bowel disease, neonatal, 2","OMIM # 616069"],"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":"1.4723","version_created":"2026-04-06T18:01:52.429035+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":[],"biotype":"protein_coding","hgnc_id":"HGNC:4041","gene_name":"frizzled class receptor 3","omim_gene":["606143"],"alias_name":null,"gene_symbol":"FZD3","hgnc_symbol":"FZD3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:28351729-28431775","ensembl_id":"ENSG00000104290"}},"GRch38":{"90":{"location":"8:28494205-28574268","ensembl_id":"ENSG00000104290"}}},"hgnc_date_symbol_changed":"1998-09-17"},"entity_type":"gene","entity_name":"FZD3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4723","version_created":"2026-04-06T18:01:52.429035+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":["SEF","IL17RLM","FLJ35755","IL-17RD"],"biotype":"protein_coding","hgnc_id":"HGNC:17616","gene_name":"interleukin 17 receptor D","omim_gene":["606807"],"alias_name":null,"gene_symbol":"IL17RD","hgnc_symbol":"IL17RD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:57124010-57204334","ensembl_id":"ENSG00000144730"}},"GRch38":{"90":{"location":"3:57089982-57170306","ensembl_id":"ENSG00000144730"}}},"hgnc_date_symbol_changed":"2003-07-07"},"entity_type":"gene","entity_name":"IL17RD","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23643382","32389901"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4723","version_created":"2026-04-06T18:01:52.429035+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":["IRR"],"biotype":"protein_coding","hgnc_id":"HGNC:6093","gene_name":"insulin receptor related receptor","omim_gene":["147671"],"alias_name":null,"gene_symbol":"INSRR","hgnc_symbol":"INSRR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:156809855-156828810","ensembl_id":"ENSG00000027644"}},"GRch38":{"90":{"location":"1:156840063-156859018","ensembl_id":"ENSG00000027644"}}},"hgnc_date_symbol_changed":"1990-05-18"},"entity_type":"gene","entity_name":"INSRR","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4723","version_created":"2026-04-06T18:01:52.429035+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":[],"biotype":"protein_coding","hgnc_id":"HGNC:29843","gene_name":"NMDA receptor synaptonuclear signaling and neuronal migration factor","omim_gene":["608137"],"alias_name":null,"gene_symbol":"NSMF","hgnc_symbol":"NSMF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:140342022-140353786","ensembl_id":"ENSG00000165802"}},"GRch38":{"90":{"location":"9:137447573-137459334","ensembl_id":"ENSG00000165802"}}},"hgnc_date_symbol_changed":"2013-01-14"},"entity_type":"gene","entity_name":"NSMF","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["15362570","17235395","21700882"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4723","version_created":"2026-04-06T18:01:52.429035+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":[],"biotype":"protein_coding","hgnc_id":"HGNC:16038","gene_name":"ORMDL sphingolipid biosynthesis regulator 3","omim_gene":["610075"],"alias_name":null,"gene_symbol":"ORMDL3","hgnc_symbol":"ORMDL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:38077294-38083854","ensembl_id":"ENSG00000172057"}},"GRch38":{"90":{"location":"17:39921041-39927601","ensembl_id":"ENSG00000172057"}}},"hgnc_date_symbol_changed":"2001-07-27"},"entity_type":"gene","entity_name":"ORMDL3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4723","version_created":"2026-04-06T18:01:52.429035+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":["PTPBR7","PTP-SL","EC-PTP","PCPTP1"],"biotype":"protein_coding","hgnc_id":"HGNC:9680","gene_name":"protein tyrosine phosphatase, receptor type R","omim_gene":["602853"],"alias_name":null,"gene_symbol":"PTPRR","hgnc_symbol":"PTPRR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:71031853-71314623","ensembl_id":"ENSG00000153233"}},"GRch38":{"90":{"location":"12:70638073-70920843","ensembl_id":"ENSG00000153233"}}},"hgnc_date_symbol_changed":"1999-10-28"},"entity_type":"gene","entity_name":"PTPRR","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4723","version_created":"2026-04-06T18:01:52.429035+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":[],"biotype":"protein_coding","hgnc_id":"HGNC:14428","gene_name":"RAN binding protein 17","omim_gene":["606141"],"alias_name":null,"gene_symbol":"RANBP17","hgnc_symbol":"RANBP17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:170288874-170727019","ensembl_id":"ENSG00000204764"}},"GRch38":{"90":{"location":"5:170861870-171300015","ensembl_id":"ENSG00000204764"}}},"hgnc_date_symbol_changed":"2001-01-22"},"entity_type":"gene","entity_name":"RANBP17","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4723","version_created":"2026-04-06T18:01:52.429035+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":["A1","RFC40"],"biotype":"protein_coding","hgnc_id":"HGNC:9970","gene_name":"replication factor C subunit 2","omim_gene":["600404"],"alias_name":["activator 1"],"gene_symbol":"RFC2","hgnc_symbol":"RFC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:73645829-73668774","ensembl_id":"ENSG00000049541"}},"GRch38":{"90":{"location":"7:74231499-74254458","ensembl_id":"ENSG00000049541"}}},"hgnc_date_symbol_changed":"1994-10-14"},"entity_type":"gene","entity_name":"RFC2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4723","version_created":"2026-04-06T18:01:52.429035+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":["VEGF-A","VPF"],"biotype":"protein_coding","hgnc_id":"HGNC:12680","gene_name":"vascular endothelial growth factor A","omim_gene":["192240"],"alias_name":null,"gene_symbol":"VEGFA","hgnc_symbol":"VEGFA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:43737921-43754224","ensembl_id":"ENSG00000112715"}},"GRch38":{"90":{"location":"6:43770184-43786487","ensembl_id":"ENSG00000112715"}}},"hgnc_date_symbol_changed":"2006-10-31"},"entity_type":"gene","entity_name":"VEGFA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{Microvascular complications of diabetes 1} 603933"],"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":"1.4723","version_created":"2026-04-06T18:01:52.429035+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":["MAD2B","REV7","POLZ2","FANCV"],"biotype":"protein_coding","hgnc_id":"HGNC:6764","gene_name":"mitotic arrest deficient 2 like 2","omim_gene":["604094"],"alias_name":["mitotic arrest deficient homolog-like 2","polymerase (DNA-directed), zeta 2, accessory subunit"],"gene_symbol":"MAD2L2","hgnc_symbol":"MAD2L2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:11734537-11751707","ensembl_id":"ENSG00000116670"}},"GRch38":{"90":{"location":"1:11674480-11691650","ensembl_id":"ENSG00000116670"}}},"hgnc_date_symbol_changed":"1999-06-22"},"entity_type":"gene","entity_name":"MAD2L2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["27500492"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Fanconi anemia, complementation group V, MIM#\t617243"],"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":"1.4723","version_created":"2026-04-06T18:01:52.429035+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":["DGCRK6","Gy1","pasha"],"biotype":"protein_coding","hgnc_id":"HGNC:2847","gene_name":"DGCR8, microprocessor complex subunit","omim_gene":["609030"],"alias_name":null,"gene_symbol":"DGCR8","hgnc_symbol":"DGCR8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:20067755-20099400","ensembl_id":"ENSG00000128191"}},"GRch38":{"90":{"location":"22:20080232-20111877","ensembl_id":"ENSG00000128191"}}},"hgnc_date_symbol_changed":"2000-06-29"},"entity_type":"gene","entity_name":"DGCR8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["31805011"],"evidence":["Expert list","Expert Review Red"],"phenotypes":["Schwannoma, MONDO:0002546","Early-onset multinodular goiter and schwannomatosis, no MIM#"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4723","version_created":"2026-04-06T18:01:52.429035+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":["KIAA0735","HsT19680"],"biotype":"protein_coding","hgnc_id":"HGNC:16874","gene_name":"synaptic vesicle glycoprotein 2B","omim_gene":["185861"],"alias_name":null,"gene_symbol":"SV2B","hgnc_symbol":"SV2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91643180-91844539","ensembl_id":"ENSG00000185518"}},"GRch38":{"90":{"location":"15:91099950-91301309","ensembl_id":"ENSG00000185518"}}},"hgnc_date_symbol_changed":"2003-02-24"},"entity_type":"gene","entity_name":"SV2B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["23617838","23937191"],"evidence":["Expert Review Red","Literature"],"phenotypes":["seizures"],"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":"1.4723","version_created":"2026-04-06T18:01:52.429035+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":["CRYG5","CRY-g-A"],"biotype":"protein_coding","hgnc_id":"HGNC:2408","gene_name":"crystallin gamma A","omim_gene":["123660"],"alias_name":["gamma crystallin 5"],"gene_symbol":"CRYGA","hgnc_symbol":"CRYGA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:209025464-209028300","ensembl_id":"ENSG00000168582"}},"GRch38":{"90":{"location":"2:208160740-208163576","ensembl_id":"ENSG00000168582"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CRYGA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["30450742","28839118"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Cataract"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["refuted"],"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":"1.4723","version_created":"2026-04-06T18:01:52.429035+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":["PC4","TIS7"],"biotype":"protein_coding","hgnc_id":"HGNC:5456","gene_name":"interferon related developmental regulator 1","omim_gene":["603502"],"alias_name":null,"gene_symbol":"IFRD1","hgnc_symbol":"IFRD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:112063023-112121072","ensembl_id":"ENSG00000006652"}},"GRch38":{"90":{"location":"7:112422968-112481017","ensembl_id":"ENSG00000006652"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"IFRD1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["29362493"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["Hereditary spastic paraplegia MONDO:0019064, IFRD1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4723","version_created":"2026-04-06T18:01:52.429035+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":["TSP-NY","FLJ40344","CT109","ERAP75"],"biotype":"protein_coding","hgnc_id":"HGNC:30723","gene_name":"coiled-coil domain containing 62","omim_gene":["613481"],"alias_name":["cancer/testis antigen 109"],"gene_symbol":"CCDC62","hgnc_symbol":"CCDC62","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:123258874-123312075","ensembl_id":"ENSG00000130783"}},"GRch38":{"90":{"location":"12:122774327-122827528","ensembl_id":"ENSG00000130783"}}},"hgnc_date_symbol_changed":"2006-01-23"},"entity_type":"gene","entity_name":"CCDC62","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["31985809","28339613"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Spermatogenic failure 67, MIM# \t619803"],"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":"1.4723","version_created":"2026-04-06T18:01:52.429035+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":["KAT1"],"biotype":"protein_coding","hgnc_id":"HGNC:4821","gene_name":"histone acetyltransferase 1","omim_gene":["603053"],"alias_name":null,"gene_symbol":"HAT1","hgnc_symbol":"HAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:172778958-172848599","ensembl_id":"ENSG00000128708"}},"GRch38":{"90":{"location":"2:171922448-171983682","ensembl_id":"ENSG00000128708"}}},"hgnc_date_symbol_changed":"1998-10-13"},"entity_type":"gene","entity_name":"HAT1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["PMID:716253"],"evidence":["UKGTN"],"phenotypes":["sajhavscz"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","tags":["SV/CNV","STR","refuted"],"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":"1.4723","version_created":"2026-04-06T18:01:52.429035+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":["MGC45440"],"biotype":"protein_coding","hgnc_id":"HGNC:17453","gene_name":"tripartite motif containing 74","omim_gene":["612550"],"alias_name":null,"gene_symbol":"TRIM74","hgnc_symbol":"TRIM74","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:72430016-72439997","ensembl_id":"ENSG00000155428"}},"GRch38":{"90":{"location":"7:72959485-72969466","ensembl_id":"ENSG00000155428"}}},"hgnc_date_symbol_changed":"2006-03-31"},"entity_type":"gene","entity_name":"TRIM74","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40735933"],"evidence":["Expert Review Red","Other"],"phenotypes":["Neurodevelopmental disorder, TRIM74-related, MONDO:0700092"],"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":"1.4723","version_created":"2026-04-06T18:01:52.429035+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":["SPP24"],"biotype":"protein_coding","hgnc_id":"HGNC:11256","gene_name":"secreted phosphoprotein 2","omim_gene":["602637"],"alias_name":null,"gene_symbol":"SPP2","hgnc_symbol":"SPP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:234959323-234985778","ensembl_id":"ENSG00000072080"}},"GRch38":{"90":{"location":"2:234050679-234077134","ensembl_id":"ENSG00000072080"}}},"hgnc_date_symbol_changed":"1996-08-21"},"entity_type":"gene","entity_name":"SPP2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["26459573"],"evidence":["Royal Melbourne Hospital","Expert Review Red","Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Autosomal dominant retinitis pigmentosa"],"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":"1.4723","version_created":"2026-04-06T18:01:52.429035+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":["DIPB","MC7"],"biotype":"protein_coding","hgnc_id":"HGNC:19016","gene_name":"tripartite motif containing 44","omim_gene":["612298"],"alias_name":null,"gene_symbol":"TRIM44","hgnc_symbol":"TRIM44","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:35684353-35829775","ensembl_id":"ENSG00000166326"}},"GRch38":{"90":{"location":"11:35662805-35818007","ensembl_id":"ENSG00000166326"}}},"hgnc_date_symbol_changed":"2003-01-03"},"entity_type":"gene","entity_name":"TRIM44","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["26394807"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Aniridia 3 MONDO:0014938"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4723","version_created":"2026-04-06T18:01:52.429035+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":["CD104"],"biotype":"protein_coding","hgnc_id":"HGNC:6158","gene_name":"integrin subunit beta 4","omim_gene":["147557"],"alias_name":null,"gene_symbol":"ITGB4","hgnc_symbol":"ITGB4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:73717408-73753899","ensembl_id":"ENSG00000132470"}},"GRch38":{"90":{"location":"17:75721328-75757818","ensembl_id":"ENSG00000132470"}}},"hgnc_date_symbol_changed":"1991-08-06"},"entity_type":"gene","entity_name":"ITGB4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["10873890"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Epidermolysis bullosa, junctional, with pyloric atresia, MIM#226730"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":144,"hash_id":null,"name":"Proteinuria","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"To be used in individuals with suspected nephrotic syndrome and related conditions, part of the Renal Glomerular Disease Superpanel.\r\n\r\n09/01/2020: This panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.","status":"public","version":"0.239","version_created":"2026-03-12T18:51:41.043263+11:00","relevant_disorders":["Proteinuria HP:0000093"],"stats":{"number_of_genes":88,"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":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC5585","FLJ22618"],"biotype":"protein_coding","hgnc_id":"HGNC:29929","gene_name":"nucleoporin 37","omim_gene":["609264"],"alias_name":null,"gene_symbol":"NUP37","hgnc_symbol":"NUP37","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:102467967-102513902","ensembl_id":"ENSG00000075188"}},"GRch38":{"90":{"location":"12:102073103-102120124","ensembl_id":"ENSG00000075188"}}},"hgnc_date_symbol_changed":"2004-03-19"},"entity_type":"gene","entity_name":"NUP37","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["30179222"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Nephrotic syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":144,"hash_id":null,"name":"Proteinuria","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"To be used in individuals with suspected nephrotic syndrome and related conditions, part of the Renal Glomerular Disease Superpanel.\r\n\r\n09/01/2020: This panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.","status":"public","version":"0.239","version_created":"2026-03-12T18:51:41.043263+11:00","relevant_disorders":["Proteinuria HP:0000093"],"stats":{"number_of_genes":88,"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":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Dnahc14","HL-18","HL18","DKFZp781B1548","MGC27277"],"biotype":"protein_coding","hgnc_id":"HGNC:2945","gene_name":"dynein axonemal heavy chain 14","omim_gene":["603341"],"alias_name":null,"gene_symbol":"DNAH14","hgnc_symbol":"DNAH14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:225083964-225586996","ensembl_id":"ENSG00000185842"}},"GRch38":{"90":{"location":"1:224896262-225399292","ensembl_id":"ENSG00000185842"}}},"hgnc_date_symbol_changed":"1997-02-05"},"entity_type":"gene","entity_name":"DNAH14","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 35438214"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO#0700092), DNAH14-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["disputed"],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GTT1"],"biotype":"protein_coding","hgnc_id":"HGNC:18063","gene_name":"StAR related lipid transfer domain containing 7","omim_gene":["616712"],"alias_name":null,"gene_symbol":"STARD7","hgnc_symbol":"STARD7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:96850597-96874563","ensembl_id":"ENSG00000084090"}},"GRch38":{"90":{"location":"2:96184859-96208825","ensembl_id":"ENSG00000084090"}}},"hgnc_date_symbol_changed":"2002-01-24"},"entity_type":"gene","entity_name":"STARD7","confidence_level":"0","penetrance":null,"mode_of_pathogenicity":"Other","publications":["11701600","24114805","31664034"],"evidence":["Expert Review Removed","Literature"],"phenotypes":["Epilepsy, familial adult myoclonic, 2, 607876"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["STR"],"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":["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":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PAM","KIAA0916","FLJ10106"],"biotype":"protein_coding","hgnc_id":"HGNC:23386","gene_name":"MYC binding protein 2, E3 ubiquitin protein ligase","omim_gene":["610392"],"alias_name":null,"gene_symbol":"MYCBP2","hgnc_symbol":"MYCBP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:77618792-77901185","ensembl_id":"ENSG00000005810"}},"GRch38":{"90":{"location":"13:77044655-77327050","ensembl_id":"ENSG00000005810"}}},"hgnc_date_symbol_changed":"2004-04-01"},"entity_type":"gene","entity_name":"MYCBP2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["PMID: 36200388"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related","corpus callosum abnormalities"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5201","gene_name":"heparan sulfate 6-O-sulfotransferase 1","omim_gene":["604846"],"alias_name":null,"gene_symbol":"HS6ST1","hgnc_symbol":"HS6ST1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:128994290-129076151","ensembl_id":"ENSG00000136720"}},"GRch38":{"90":{"location":"2:128236716-128318577","ensembl_id":"ENSG00000136720"}}},"hgnc_date_symbol_changed":"2002-08-23"},"entity_type":"gene","entity_name":"HS6ST1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21700882"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{Hypogonadotropic hypogonadism 15 with or without anosmia} 614880"],"mode_of_inheritance":"Other","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:6341","gene_name":"KiSS-1 metastasis-suppressor","omim_gene":["603286"],"alias_name":["prepro-kisspeptin","kisspeptin"],"gene_symbol":"KISS1","hgnc_symbol":"KISS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:204159469-204165614","ensembl_id":"ENSG00000170498"}},"GRch38":{"90":{"location":"1:204190341-204196486","ensembl_id":"ENSG00000170498"}}},"hgnc_date_symbol_changed":"1998-05-18"},"entity_type":"gene","entity_name":"KISS1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22335740","25783047","22766261","17563351"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842"],"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":["SEN34","SEN34L"],"biotype":"protein_coding","hgnc_id":"HGNC:15506","gene_name":"tRNA splicing endonuclease subunit 34","omim_gene":["608754"],"alias_name":null,"gene_symbol":"TSEN34","hgnc_symbol":"TSEN34","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:54693789-54697585","ensembl_id":"ENSG00000170892"}},"GRch38":{"90":{"location":"19:54189938-54194536","ensembl_id":"ENSG00000170892"}}},"hgnc_date_symbol_changed":"2005-03-12"},"entity_type":"gene","entity_name":"TSEN34","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["18711368"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Pontocerebellar hypoplasia type 2C, MIM# 612390"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.610","version_created":"2026-03-31T18:57:58.699788+11:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.610","version_created":"2026-03-31T18:57:58.699788+11:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HMSNIB","CMT2I","CMT2J"],"biotype":"protein_coding","hgnc_id":"HGNC:7225","gene_name":"myelin protein zero","omim_gene":["159440"],"alias_name":null,"gene_symbol":"MPZ","hgnc_symbol":"MPZ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161274525-161279762","ensembl_id":"ENSG00000158887"}},"GRch38":{"90":{"location":"1:161304735-161309972","ensembl_id":"ENSG00000158887"}}},"hgnc_date_symbol_changed":"1990-04-27"},"entity_type":"gene","entity_name":"MPZ","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21176974","12845552","12805115"],"evidence":["Expert Review Red","Literature","Literature"],"phenotypes":["Syndromic auditory neuropathy spectrum disorder"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA2025","roquin","RP5-1198E17.5","RNF198"],"biotype":"protein_coding","hgnc_id":"HGNC:29434","gene_name":"ring finger and CCCH-type domains 1","omim_gene":["609424"],"alias_name":["KIAA2025 protein"],"gene_symbol":"RC3H1","hgnc_symbol":"RC3H1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:173900352-173991435","ensembl_id":"ENSG00000135870"}},"GRch38":{"90":{"location":"1:173931214-174022297","ensembl_id":"ENSG00000135870"}}},"hgnc_date_symbol_changed":"2005-08-19"},"entity_type":"gene","entity_name":"RC3H1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 40769319"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Inborn error of immunity, MONDO:0003778, RC3H1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.43","version_created":"2026-04-06T13:01:39.255117+10:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":118,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0699"],"biotype":"protein_coding","hgnc_id":"HGNC:17208","gene_name":"BICD cargo adaptor 2","omim_gene":["609797"],"alias_name":null,"gene_symbol":"BICD2","hgnc_symbol":"BICD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:95473645-95527094","ensembl_id":"ENSG00000185963"}},"GRch38":{"90":{"location":"9:92711363-92764812","ensembl_id":"ENSG00000185963"}}},"hgnc_date_symbol_changed":"2003-11-14"},"entity_type":"gene","entity_name":"BICD2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":["Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["IPP2"],"biotype":"protein_coding","hgnc_id":"HGNC:9288","gene_name":"protein phosphatase 1 regulatory inhibitor subunit 2","omim_gene":["601792"],"alias_name":null,"gene_symbol":"PPP1R2","hgnc_symbol":"PPP1R2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:195241221-195270209","ensembl_id":"ENSG00000184203"}},"GRch38":{"90":{"location":"3:195514425-195543386","ensembl_id":"ENSG00000184203"}}},"hgnc_date_symbol_changed":"1993-01-22"},"entity_type":"gene","entity_name":"PPP1R2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40597352","26558779"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodevelopmental disorder, PPP1R2-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TGN","AITD3"],"biotype":"protein_coding","hgnc_id":"HGNC:11764","gene_name":"thyroglobulin","omim_gene":["188450"],"alias_name":null,"gene_symbol":"TG","hgnc_symbol":"TG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:133879203-134147147","ensembl_id":"ENSG00000042832"}},"GRch38":{"90":{"location":"8:132866958-133134903","ensembl_id":"ENSG00000042832"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"TG","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Thyroid dyshormonogenesis 3","OMIM #274700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["bA50D16.2","FLJ12661"],"biotype":"protein_coding","hgnc_id":"HGNC:20291","gene_name":"proline and serine rich 1","omim_gene":null,"alias_name":null,"gene_symbol":"PROSER1","hgnc_symbol":"PROSER1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:39584003-39612252","ensembl_id":"ENSG00000120685"}},"GRch38":{"90":{"location":"13:39009866-39038076","ensembl_id":"ENSG00000120685"}}},"hgnc_date_symbol_changed":"2011-08-09"},"entity_type":"gene","entity_name":"PROSER1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 35229282"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Syndromic disease MONDO:0002254, PROSER1-related","Developmental delay, hypotonia, seizures, failure-to-thrive, strabismus, drooling, recurrent otitis media, hearing impairment, and genitourinary malformations, no OMIM #"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CDC2"],"biotype":"protein_coding","hgnc_id":"HGNC:9175","gene_name":"DNA polymerase delta 1, catalytic subunit","omim_gene":["174761"],"alias_name":["CDC2 homolog (S. cerevisiae)"],"gene_symbol":"POLD1","hgnc_symbol":"POLD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:50887461-50921273","ensembl_id":"ENSG00000062822"}},"GRch38":{"90":{"location":"19:50384204-50418018","ensembl_id":"ENSG00000062822"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLD1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["31449058"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Intellectual disability","immunodeficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TRS33","MGC2650","HSPC289"],"biotype":"protein_coding","hgnc_id":"HGNC:23069","gene_name":"trafficking protein particle complex 6A","omim_gene":["610396"],"alias_name":null,"gene_symbol":"TRAPPC6A","hgnc_symbol":"TRAPPC6A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:45666186-45681495","ensembl_id":"ENSG00000007255"}},"GRch38":{"90":{"location":"19:45162928-45178237","ensembl_id":"ENSG00000007255"}}},"hgnc_date_symbol_changed":"2003-09-03"},"entity_type":"gene","entity_name":"TRAPPC6A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSPC136","FLJ20431"],"biotype":"protein_coding","hgnc_id":"HGNC:18418","gene_name":"huntingtin interacting protein K","omim_gene":["612784"],"alias_name":["Huntingtin yeast partner K"],"gene_symbol":"HYPK","hgnc_symbol":"HYPK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:44088340-44095241","ensembl_id":"ENSG00000242028"}},"GRch38":{"90":{"location":"15:43796142-43803043","ensembl_id":"ENSG00000242028"}}},"hgnc_date_symbol_changed":"2012-10-08"},"entity_type":"gene","entity_name":"HYPK","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40986405"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, HYPK-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["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":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["VAKTI","LEKTI","LETKI","NETS","NS","FLJ21544","FLJ97536","FLJ97596","FLJ99794","DKFZp686K19184"],"biotype":"protein_coding","hgnc_id":"HGNC:15464","gene_name":"serine peptidase inhibitor, Kazal type 5","omim_gene":["605010"],"alias_name":["lymphoepithelial Kazal-type-related inhibitor"],"gene_symbol":"SPINK5","hgnc_symbol":"SPINK5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:147405246-147516852","ensembl_id":"ENSG00000133710"}},"GRch38":{"90":{"location":"5:148025683-148137289","ensembl_id":"ENSG00000133710"}}},"hgnc_date_symbol_changed":"2001-03-30"},"entity_type":"gene","entity_name":"SPINK5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Netherton syndrome","OMIM #256500"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0243","LAM","hamartin"],"biotype":"protein_coding","hgnc_id":"HGNC:12362","gene_name":"TSC complex subunit 1","omim_gene":["605284"],"alias_name":["hamartin"],"gene_symbol":"TSC1","hgnc_symbol":"TSC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:135766735-135820020","ensembl_id":"ENSG00000165699"}},"GRch38":{"90":{"location":"9:132891348-132944633","ensembl_id":"ENSG00000165699"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"TSC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ31937","EPM1B","RILP"],"biotype":"protein_coding","hgnc_id":"HGNC:17019","gene_name":"prickle planar cell polarity protein 1","omim_gene":["608500"],"alias_name":["REST/NRSF interacting LIM domain protein"],"gene_symbol":"PRICKLE1","hgnc_symbol":"PRICKLE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:42852140-42984157","ensembl_id":"ENSG00000139174"}},"GRch38":{"90":{"location":"12:42456757-42590355","ensembl_id":"ENSG00000139174"}}},"hgnc_date_symbol_changed":"2003-02-10"},"entity_type":"gene","entity_name":"PRICKLE1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["20301774"],"evidence":["Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Progressive myoclonic epilepsy 1B, 612437","Progressive Myoclonus Epilepsy with Ataxia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["disputed"],"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":null},{"gene_data":{"alias":["MGC23980","DENNL72"],"biotype":"protein_coding","hgnc_id":"HGNC:28337","gene_name":"chromosome 9 open reading frame 72","omim_gene":["614260"],"alias_name":null,"gene_symbol":"C9orf72","hgnc_symbol":"C9orf72","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:27546544-27573864","ensembl_id":"ENSG00000147894"}},"GRch38":{"90":{"location":"9:27546545-27573866","ensembl_id":"ENSG00000147894"}}},"hgnc_date_symbol_changed":"2004-01-06"},"entity_type":"gene","entity_name":"C9orf72","confidence_level":"0","penetrance":null,"mode_of_pathogenicity":null,"publications":["26166205","24363131","26187722"],"evidence":["Expert Review Removed","Expert list"],"phenotypes":["Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, MIM# 105550"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["STR"],"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":["RAFT1","RAPT1","FLJ44809"],"biotype":"protein_coding","hgnc_id":"HGNC:3942","gene_name":"mechanistic target of rapamycin kinase","omim_gene":["601231"],"alias_name":["FK506 binding protein 12-rapamycin associated protein 2","rapamycin target protein","FKBP12-rapamycin complex-associated protein 1","FKBP-rapamycin associated protein","rapamycin associated protein FRAP2","dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)","rapamycin and FKBP12 target 1","mammalian target of rapamycin"],"gene_symbol":"MTOR","hgnc_symbol":"MTOR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:11166592-11322564","ensembl_id":"ENSG00000198793"}},"GRch38":{"90":{"location":"1:11106535-11262507","ensembl_id":"ENSG00000198793"}}},"hgnc_date_symbol_changed":"2009-05-29"},"entity_type":"gene","entity_name":"MTOR","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["28892148","29174369"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Smith-Kingsmore syndrome 616638","Focal cortical dysplasia, type II, somatic 607341"],"mode_of_inheritance":"Other","tags":["somatic"],"panel":{"id":300,"hash_id":null,"name":"Vascular Malformations_Germline","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes that cause Mendelian vascular malformation disorders, particularly those presenting with skin lesions. Genes causing sporadic and congenital vascular malformations through somatic activating mutations are rated Red and labelled 'somatic'. This gene panel is maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nIf a sample of affected tissue is being tested, please use the Vascular Malformations_Somatic panel.","status":"public","version":"1.13","version_created":"2026-01-24T18:03:26.952041+11:00","relevant_disorders":["Abnormal vascular morphology HP:0025015"],"stats":{"number_of_genes":42,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"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":["11527955","16043865","16280978","17251446","18450588"],"evidence":["Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Retinitis pigmentosa 30 MIM#607921","Macular degeneration"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":303,"hash_id":null,"name":"Macular Dystrophy/Stargardt Disease","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.","status":"public","version":"0.60","version_created":"2026-03-31T16:05:02.510211+11:00","relevant_disorders":["Macular dystrophy","HP:0007754"],"stats":{"number_of_genes":39,"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":["KIAA0591","KLP","HMSNII"],"biotype":"protein_coding","hgnc_id":"HGNC:16636","gene_name":"kinesin family member 1B","omim_gene":["605995"],"alias_name":null,"gene_symbol":"KIF1B","hgnc_symbol":"KIF1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:10270863-10441661","ensembl_id":"ENSG00000054523"}},"GRch38":{"90":{"location":"1:10210805-10381603","ensembl_id":"ENSG00000054523"}}},"hgnc_date_symbol_changed":"2001-11-14"},"entity_type":"gene","entity_name":"KIF1B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["11389829","30126838","25802885"],"evidence":["Royal Melbourne Hospital","Expert Review Red","Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Charcot Marie Tooth disease, type 2A1, 118210","HMSN"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ARC92","ACID1","TCBAP0758","DKFZp434K0512"],"biotype":"protein_coding","hgnc_id":"HGNC:28845","gene_name":"mediator complex subunit 25","omim_gene":["610197"],"alias_name":null,"gene_symbol":"MED25","hgnc_symbol":"MED25","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:50321539-50342073","ensembl_id":"ENSG00000104973"}},"GRch38":{"90":{"location":"19:49818279-49838816","ensembl_id":"ENSG00000104973"}}},"hgnc_date_symbol_changed":"2004-11-09"},"entity_type":"gene","entity_name":"MED25","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["19290556","30039206"],"evidence":["Victorian Clinical Genetics Services","Expert list","Expert Review Red","Expert Review Green","Expert Review Green","Expert Review Red","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Charcot-Marie-Tooth disease, type 2B2\tMIM#605589"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["disputed"],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":null,"hgnc_id":"HGNC:12309","gene_name":"zinc finger HIT-type containing 3","omim_gene":["604500"],"alias_name":null,"gene_symbol":"ZNHIT3","hgnc_symbol":"ZNHIT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:34842473-34855154","ensembl_id":"ENSG00000108278"}},"GRch38":{"90":{"location":"17:36486629-36499310","ensembl_id":"ENSG00000273611"}}},"hgnc_date_symbol_changed":"2005-09-08"},"entity_type":"gene","entity_name":"ZNHIT3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["28335020"],"evidence":["Other","Expert Review Red"],"phenotypes":["PEHO syndrome, 260565"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3098,"hash_id":null,"name":"Lymphoedema","disease_group":"Cardiovascular disorders","disease_sub_group":"Lymphatic Disorders","description":"The panel contains genes associated with nonsyndromic and syndromic lymphoedema.","status":"public","version":"0.32","version_created":"2026-02-06T22:04:55.315713+11:00","relevant_disorders":["Lymphedema","HP:0001004"],"stats":{"number_of_genes":59,"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":["DIDMOAD","WFS"],"biotype":"protein_coding","hgnc_id":"HGNC:12762","gene_name":"wolframin ER transmembrane glycoprotein","omim_gene":["606201"],"alias_name":null,"gene_symbol":"WFS1","hgnc_symbol":"WFS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:6271576-6304992","ensembl_id":"ENSG00000109501"}},"GRch38":{"90":{"location":"4:6269849-6303265","ensembl_id":"ENSG00000109501"}}},"hgnc_date_symbol_changed":"1995-01-30"},"entity_type":"gene","entity_name":"WFS1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Diabetes mellitus AND insipidus with optic atrophy AND deafness"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3141,"hash_id":null,"name":"Stroke","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.","status":"public","version":"1.48","version_created":"2026-03-31T17:20:59.161732+11:00","relevant_disorders":["Stroke","HP:0001297"],"stats":{"number_of_genes":75,"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":["M-SemaK","KIAA0331","coll-5"],"biotype":"protein_coding","hgnc_id":"HGNC:10727","gene_name":"semaphorin 3E","omim_gene":["608166"],"alias_name":["M-sema H"],"gene_symbol":"SEMA3E","hgnc_symbol":"SEMA3E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:82993222-83278326","ensembl_id":"ENSG00000170381"}},"GRch38":{"90":{"location":"7:83363906-83649010","ensembl_id":"ENSG00000170381"}}},"hgnc_date_symbol_changed":"1999-06-25"},"entity_type":"gene","entity_name":"SEMA3E","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["25985275"],"evidence":["Expert Review Red","Expert Review","Expert Review","Expert Review"],"phenotypes":["?CHARGE syndrome (MIM#214800)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3236,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.208","version_created":"2026-04-02T15:15:10.893013+11:00","relevant_disorders":["Hypopituitarism","HP:0040075"],"stats":{"number_of_genes":118,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MCCB"],"biotype":"protein_coding","hgnc_id":"HGNC:6937","gene_name":"methylcrotonoyl-CoA carboxylase 2","omim_gene":["609014"],"alias_name":["methylcrotonoyl-CoA carboxylase beta"],"gene_symbol":"MCCC2","hgnc_symbol":"MCCC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:70883115-70954531","ensembl_id":"ENSG00000131844"}},"GRch38":{"90":{"location":"5:71587288-71658704","ensembl_id":"ENSG00000131844"}}},"hgnc_date_symbol_changed":"1992-12-07"},"entity_type":"gene","entity_name":"MCCC2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category B gene"],"phenotypes":["3-Methylcrotonyl-CoA carboxylase 2 deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hTAFII68","RBP56","Npl3"],"biotype":null,"hgnc_id":"HGNC:11547","gene_name":"TATA-box binding protein associated factor 15","omim_gene":["601574"],"alias_name":null,"gene_symbol":"TAF15","hgnc_symbol":"TAF15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:34136459-34191619","ensembl_id":"ENSG00000172660"}},"GRch38":{"90":{"location":"17:35713791-35864615","ensembl_id":"ENSG00000270647"}}},"hgnc_date_symbol_changed":"2001-12-07"},"entity_type":"gene","entity_name":"TAF15","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":["MGC131950","MGC138321","MGC138323"],"biotype":"protein_coding","hgnc_id":"HGNC:12782","gene_name":"Wnt family member 3","omim_gene":["165330"],"alias_name":["WNT-3 proto-oncogene protein"],"gene_symbol":"WNT3","hgnc_symbol":"WNT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:44839872-44910520","ensembl_id":"ENSG00000108379"}},"GRch38":{"90":{"location":"17:46762506-46833154","ensembl_id":"ENSG00000108379"}}},"hgnc_date_symbol_changed":"1989-05-30"},"entity_type":"gene","entity_name":"WNT3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["14872406"],"evidence":["Expert Review Red","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Tetra-amelia syndrome 273395"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3729,"hash_id":null,"name":"Hand and foot malformations","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.","status":"public","version":"0.85","version_created":"2026-03-26T15:53:21.747538+11:00","relevant_disorders":["Abnormal hand morphology","HP:0005922; Abnormal foot morphology","HP:0001760"],"stats":{"number_of_genes":101,"number_of_strs":1,"number_of_regions":4},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSD17B9","SDR9C5"],"biotype":"protein_coding","hgnc_id":"HGNC:9940","gene_name":"retinol dehydrogenase 5","omim_gene":["601617"],"alias_name":["short chain dehydrogenase/reductase family 9C, member 5"],"gene_symbol":"RDH5","hgnc_symbol":"RDH5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:56114151-56118489","ensembl_id":"ENSG00000135437"}},"GRch38":{"90":{"location":"12:55720367-55724705","ensembl_id":"ENSG00000135437"}}},"hgnc_date_symbol_changed":"1996-07-19"},"entity_type":"gene","entity_name":"RDH5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["15790919","14718298","11812441","10369264"],"evidence":["Expert Review Red","Royal Melbourne Hospital","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Fundus albipunctatus, MIM# 136880"],"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":["KIAA1074"],"biotype":"protein_coding","hgnc_id":"HGNC:29186","gene_name":"ankyrin repeat domain 26","omim_gene":["610855"],"alias_name":null,"gene_symbol":"ANKRD26","hgnc_symbol":"ANKRD26","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:27280843-27389421","ensembl_id":"ENSG00000107890"}},"GRch38":{"90":{"location":"10:26991914-27100498","ensembl_id":"ENSG00000107890"}}},"hgnc_date_symbol_changed":"2004-02-04"},"entity_type":"gene","entity_name":"ANKRD26","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21211618"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Thrombocytopaenia 2, MIM# 188000"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.556","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":["STA","LEMD5"],"biotype":"protein_coding","hgnc_id":"HGNC:3331","gene_name":"emerin","omim_gene":["300384"],"alias_name":["LEM domain containing 5"],"gene_symbol":"EMD","hgnc_symbol":"EMD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153607557-153609883","ensembl_id":"ENSG00000102119"}},"GRch38":{"90":{"location":"X:154379197-154381523","ensembl_id":"ENSG00000102119"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"EMD","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["26247046","21697856","31802929","20301609"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Emery-Dreifuss muscular dystrophy 1, X-linked 310300"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.556","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":["FLJ21924"],"biotype":"protein_coding","hgnc_id":"HGNC:26154","gene_name":"glutamine and serine rich 1","omim_gene":null,"alias_name":null,"gene_symbol":"QSER1","hgnc_symbol":"QSER1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:32914724-33014862","ensembl_id":"ENSG00000060749"}},"GRch38":{"90":{"location":"11:32893178-32993316","ensembl_id":"ENSG00000060749"}}},"hgnc_date_symbol_changed":"2006-02-06"},"entity_type":"gene","entity_name":"QSER1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 41139957"],"evidence":["Expert Review Red","Literature","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, QSER1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.556","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":[]},{"gene_data":{"alias":["HDS","FLJ13102","DS","RP59"],"biotype":"protein_coding","hgnc_id":"HGNC:20603","gene_name":"dehydrodolichyl diphosphate synthase subunit","omim_gene":["608172"],"alias_name":null,"gene_symbol":"DHDDS","hgnc_symbol":"DHDDS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:26758773-26797785","ensembl_id":"ENSG00000117682"}},"GRch38":{"90":{"location":"1:26432282-26471294","ensembl_id":"ENSG00000117682"}}},"hgnc_date_symbol_changed":"2003-05-22"},"entity_type":"gene","entity_name":"DHDDS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29100083"],"evidence":["Expert Review Red","Genomics England PanelApp","Expert list"],"phenotypes":["Developmental delay and seizures with or without movement abnormalities, MIM#617836"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.556","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":["4-HPPD","4HPPD","GLOD3"],"biotype":"protein_coding","hgnc_id":"HGNC:5147","gene_name":"4-hydroxyphenylpyruvate dioxygenase","omim_gene":["609695"],"alias_name":["glyoxalase domain containing 3"],"gene_symbol":"HPD","hgnc_symbol":"HPD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:122277433-122301502","ensembl_id":"ENSG00000158104"}},"GRch38":{"90":{"location":"12:121839527-121863596","ensembl_id":"ENSG00000158104"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"HPD","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["10942115","17560158","27604308"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Hawkinsinuria (MIM#140350), AD","Tyrosinemia type III (MIM#276710), AR"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":[],"biotype":"protein_coding","hgnc_id":"HGNC:7216","gene_name":"mannose phosphate isomerase","omim_gene":["154550"],"alias_name":["mannose-6-phosphate isomerase"],"gene_symbol":"MPI","hgnc_symbol":"MPI","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:75182346-75191798","ensembl_id":"ENSG00000178802"}},"GRch38":{"90":{"location":"15:74890005-74902219","ensembl_id":"ENSG00000178802"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MPI","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["12414827","9585601","10980531","33098580","33204592","32905087","32266963","30242110"],"evidence":["Expert Review Red","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["MPI-CDG, MONDO:0011257","Congenital disorder of glycosylation, type Ib, OMIM:602579"],"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":["FLJ20459"],"biotype":"protein_coding","hgnc_id":"HGNC:28883","gene_name":"pyrophosphatase (inorganic) 2","omim_gene":["609988"],"alias_name":null,"gene_symbol":"PPA2","hgnc_symbol":"PPA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:106290234-106395238","ensembl_id":"ENSG00000138777"}},"GRch38":{"90":{"location":"4:105369077-105474081","ensembl_id":"ENSG00000138777"}}},"hgnc_date_symbol_changed":"2005-10-07"},"entity_type":"gene","entity_name":"PPA2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["27523598","34400813"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Sudden cardiac failure, alcohol-induced, 617223","Sudden cardiac failure, infantile, 617222"],"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":["DDP","MTS"],"biotype":"protein_coding","hgnc_id":"HGNC:11817","gene_name":"translocase of inner mitochondrial membrane 8A","omim_gene":["300356"],"alias_name":null,"gene_symbol":"TIMM8A","hgnc_symbol":"TIMM8A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:100600649-100604184","ensembl_id":"ENSG00000126953"}},"GRch38":{"90":{"location":"X:101345661-101349196","ensembl_id":"ENSG00000126953"}}},"hgnc_date_symbol_changed":"1999-12-01"},"entity_type":"gene","entity_name":"TIMM8A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp","Expert list"],"phenotypes":["Mohr-Tranebjaerg syndrome, MIM# 304700"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.556","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":["CGI-119","S1R","ZPRO","LFG4","GAAP"],"biotype":"protein_coding","hgnc_id":"HGNC:24257","gene_name":"transmembrane BAX inhibitor motif containing 4","omim_gene":["616874"],"alias_name":null,"gene_symbol":"TMBIM4","hgnc_symbol":"TMBIM4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:66517709-66563852","ensembl_id":"ENSG00000155957"}},"GRch38":{"90":{"location":"12:66135846-66170072","ensembl_id":"ENSG00000155957"}}},"hgnc_date_symbol_changed":"2005-08-22"},"entity_type":"gene","entity_name":"TMBIM4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40744297","21282601","28991257"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Visceral heterotaxy MONDO:0018677, TMBIM4-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.556","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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1339","gene_name":"complement C6","omim_gene":["217050"],"alias_name":null,"gene_symbol":"C6","hgnc_symbol":"C6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:41142336-41261540","ensembl_id":"ENSG00000039537"}},"GRch38":{"90":{"location":"5:41142234-41261438","ensembl_id":"ENSG00000039537"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"C6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31440263","23537992","17257682","22668955","32670577"],"evidence":["Expert Review Red","Mackenzie's Mission"],"phenotypes":["C6 deficiency, 612446 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hCG_1645727","NEM6"],"biotype":"protein_coding","hgnc_id":"HGNC:37227","gene_name":"kelch repeat and BTB domain containing 13","omim_gene":["613727"],"alias_name":["nemaline myopathy type 6"],"gene_symbol":"KBTBD13","hgnc_symbol":"KBTBD13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:65369154-65372276","ensembl_id":"ENSG00000234438"}},"GRch38":{"90":{"location":"15:65076816-65078192","ensembl_id":"ENSG00000234438"}}},"hgnc_date_symbol_changed":"2010-01-25"},"entity_type":"gene","entity_name":"KBTBD13","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Nemaline myopathy 6, autosomal dominant, MIM# 609273","Hereditary motor neuropathy late-onset","limb girdle muscular dystrophy"],"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":["CD104"],"biotype":"protein_coding","hgnc_id":"HGNC:6158","gene_name":"integrin subunit beta 4","omim_gene":["147557"],"alias_name":null,"gene_symbol":"ITGB4","hgnc_symbol":"ITGB4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:73717408-73753899","ensembl_id":"ENSG00000132470"}},"GRch38":{"90":{"location":"17:75721328-75757818","ensembl_id":"ENSG00000132470"}}},"hgnc_date_symbol_changed":"1991-08-06"},"entity_type":"gene","entity_name":"ITGB4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Epidermolysis bullosa of hands and feet, MIM# 131800","Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650","Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730"],"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":["CD49c","VLA3a","VCA-2","GAP-B3"],"biotype":"protein_coding","hgnc_id":"HGNC:6139","gene_name":"integrin subunit alpha 3","omim_gene":["605025"],"alias_name":["alpha 3 subunit of VLA-3 receptor","antigen CD49C"],"gene_symbol":"ITGA3","hgnc_symbol":"ITGA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:48133332-48167845","ensembl_id":"ENSG00000005884"}},"GRch38":{"90":{"location":"17:50055968-50090481","ensembl_id":"ENSG00000005884"}}},"hgnc_date_symbol_changed":"1992-02-27"},"entity_type":"gene","entity_name":"ITGA3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital"],"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":["RPD3"],"biotype":"protein_coding","hgnc_id":"HGNC:13315","gene_name":"histone deacetylase 8","omim_gene":["300269"],"alias_name":null,"gene_symbol":"HDAC8","hgnc_symbol":"HDAC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:71549366-71792953","ensembl_id":"ENSG00000147099"}},"GRch38":{"90":{"location":"X:72329516-72573103","ensembl_id":"ENSG00000147099"}}},"hgnc_date_symbol_changed":"2002-09-06"},"entity_type":"gene","entity_name":"HDAC8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Cornelia de Lange syndrome 5, MIM# 300882"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":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":["CX47","CX46.6","SPG44"],"biotype":"protein_coding","hgnc_id":"HGNC:17494","gene_name":"gap junction protein gamma 2","omim_gene":["608803"],"alias_name":["connexin 47"],"gene_symbol":"GJC2","hgnc_symbol":"GJC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:228337553-228347527","ensembl_id":"ENSG00000198835"}},"GRch38":{"90":{"location":"1:228149852-228159826","ensembl_id":"ENSG00000198835"}}},"hgnc_date_symbol_changed":"2007-11-06"},"entity_type":"gene","entity_name":"GJC2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Spastic paraplegia 44, autosomal recessive MIM#613206","Leukodystrophy, hypomyelinating, 2 MIM#608804","Lymphatic malformation 3 MIM#613480"],"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":["FREAC3","ARA","IGDA","IHG1"],"biotype":"protein_coding","hgnc_id":"HGNC:3800","gene_name":"forkhead box C1","omim_gene":["601090"],"alias_name":null,"gene_symbol":"FOXC1","hgnc_symbol":"FOXC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:1610681-1614127","ensembl_id":"ENSG00000054598"}},"GRch38":{"90":{"location":"6:1609972-1613897","ensembl_id":"ENSG00000054598"}}},"hgnc_date_symbol_changed":"1995-06-05"},"entity_type":"gene","entity_name":"FOXC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Axenfeld-Rieger syndrome, type 3, MIM# 602482"],"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":["DLDH"],"biotype":"protein_coding","hgnc_id":"HGNC:2898","gene_name":"dihydrolipoamide dehydrogenase","omim_gene":["238331"],"alias_name":["E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"],"gene_symbol":"DLD","hgnc_symbol":"DLD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:107531415-107572175","ensembl_id":"ENSG00000091140"}},"GRch38":{"90":{"location":"7:107890970-107931730","ensembl_id":"ENSG00000091140"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"DLD","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene","BeginNGS"],"phenotypes":["Maple syrup urine disease, type III, MIM#246900"],"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":["nicein-150kDa","kalinin-165kDa","BM600-150kDa","epiligrin"],"biotype":"protein_coding","hgnc_id":"HGNC:6483","gene_name":"laminin subunit alpha 3","omim_gene":["600805"],"alias_name":null,"gene_symbol":"LAMA3","hgnc_symbol":"LAMA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:21269407-21535030","ensembl_id":"ENSG00000053747"}},"GRch38":{"90":{"location":"18:23689443-23955066","ensembl_id":"ENSG00000053747"}}},"hgnc_date_symbol_changed":"1993-12-14"},"entity_type":"gene","entity_name":"LAMA3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Epidermolysis bullosa, junctional 2B, severe, MIM# 619784"],"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":["KRAS1"],"biotype":"protein_coding","hgnc_id":"HGNC:6407","gene_name":"KRAS proto-oncogene, GTPase","omim_gene":["190070"],"alias_name":null,"gene_symbol":"KRAS","hgnc_symbol":"KRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:25357723-25403870","ensembl_id":"ENSG00000133703"}},"GRch38":{"90":{"location":"12:25204789-25250936","ensembl_id":"ENSG00000133703"}}},"hgnc_date_symbol_changed":"2005-01-24"},"entity_type":"gene","entity_name":"KRAS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Cardiofaciocutaneous syndrome 2, MIM# 615278","Noonan syndrome 3, MIM# 609942"],"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":["MLH2"],"biotype":"protein_coding","hgnc_id":"HGNC:9121","gene_name":"PMS1 homolog 1, mismatch repair system component","omim_gene":["600258"],"alias_name":null,"gene_symbol":"PMS1","hgnc_symbol":"PMS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:190649107-190742355","ensembl_id":"ENSG00000064933"}},"GRch38":{"90":{"location":"2:189784085-189877629","ensembl_id":"ENSG00000064933"}}},"hgnc_date_symbol_changed":"1994-12-13"},"entity_type":"gene","entity_name":"PMS1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Red","ClinGen"],"phenotypes":["Lynch syndrome, MONDO:0005835"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["refuted"],"panel":{"id":4371,"hash_id":null,"name":"Colorectal Cancer and Polyposis","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.4","version_created":"2025-11-20T12:31:46.390137+11:00","relevant_disorders":[],"stats":{"number_of_genes":22,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37392-Loss","verbose_name":"Williams-Beuren syndrome, 7q11.23 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":["20301427"],"evidence":["Expert Review Green","Expert Review","Expert Review"],"phenotypes":["Williams-Beuren syndrome, MIM#\t194050","intellectual disability","growth retardation","cardiovascular disease"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"7","grch37_coordinates":null,"grch38_coordinates":[73330451,74728175],"tags":["SV/CNV"],"panel":{"id":76,"hash_id":null,"name":"Congenital Heart Defect","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.","status":"public","version":"0.534","version_created":"2026-03-30T13:14:35.719896+11:00","relevant_disorders":["Abnormal heart morphology HP:0001627"],"stats":{"number_of_genes":253,"number_of_strs":1,"number_of_regions":10},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":{"alias":["JBTS4","SLSN1"],"biotype":"protein_coding","hgnc_id":"HGNC:7905","gene_name":"nephrocystin 1","omim_gene":["607100"],"alias_name":null,"gene_symbol":"NPHP1","hgnc_symbol":"NPHP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:110879888-110962643","ensembl_id":"ENSG00000144061"}},"GRch38":{"90":{"location":"2:110122311-110205066","ensembl_id":"ENSG00000144061"}}},"hgnc_date_symbol_changed":"1991-08-08"},"entity_type":"region","entity_name":"ISCA-37405-Loss","verbose_name":"NPHP1 deletion","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":["29146700"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Nephronophthisis 1, juvenile, MIM#\t256100","Joubert syndrome 4, MIM#\t609583","Senior-Loken syndrome 1, MIM#\t266900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","chromosome":"2","grch37_coordinates":null,"grch38_coordinates":[110122329,110205017],"tags":["SV/CNV"],"panel":{"id":129,"hash_id":null,"name":"Joubert syndrome and other neurological ciliopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes associated with Joubert syndrome, Meckel Gruber syndrome and other ciliopathies where structural CNS abnormalities are prominent.\r\n\r\nPlease consider also applying the Cerebellar and Pontocerebellar Hypoplasia panel in the presence of more non-specific cerebellar abnormalities and applying the Ciliopathy panel in the presence of additional clinical features suggestive of a multi-system ciliopathy.","status":"public","version":"1.33","version_created":"2025-12-16T12:55:34.757878+11:00","relevant_disorders":["Molar tooth sign on MRI","HP:0002419; Joubert syndrome","MONDO:0018772"],"stats":{"number_of_genes":69,"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":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37431-Loss","verbose_name":"Chromosome 17q11.2 deletion syndrome, NF1 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":["12660952","14729829"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Chromosome 17q11.2 deletion syndrome, MIM#613675","NF1 deletion syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"17","grch37_coordinates":null,"grch38_coordinates":[30835804,31891648],"tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37429-Loss","verbose_name":"Wolf-Hirschhorn syndrome, chromosome 4p16.3 terminal deletion","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":[],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Wolf-Hirschhorn syndrome, MIM#\t194190","intellectual disability","growth retardation","seizures","dysmorphic features"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"4","grch37_coordinates":null,"grch38_coordinates":[337779,2009235],"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":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6834","gene_name":"monoamine oxidase B","omim_gene":["309860"],"alias_name":null,"gene_symbol":"MAOB","hgnc_symbol":"MAOB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:43625858-43741693","ensembl_id":"ENSG00000069535"}},"GRch38":{"90":{"location":"X:43766611-43882447","ensembl_id":"ENSG00000069535"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"region","entity_name":"ISCA-37468-Loss","verbose_name":"Xp11.23 region (includes MAOA and MAOB) Loss","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":["PMID: 22126752","16385466","20186789"],"evidence":["Expert Review Green","ClinGen","ClinGen","Expert Review Green"],"phenotypes":["Chromosome Xp11.23 deletion syndrome"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","chromosome":"X","grch37_coordinates":null,"grch38_coordinates":[43654906,43882474],"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-37500-Loss","verbose_name":"Chromosome 15q25 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":["20921022","24352913"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Chromosome 15q25 deletion syndrome\tMIM#614294","intellectual disability","congenital abnormalities","haematological abnormalities"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"15","grch37_coordinates":null,"grch38_coordinates":[82534141,84045981],"tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37436-Loss","verbose_name":"Hereditary neuropathy with liability to pressure palsies","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":["PMID: 32356557","31118906","24726093"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list","Expert Review Green","Expert list"],"phenotypes":["Neuropathy, recurrent, with pressure palsies, MIM# 162500"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","chromosome":"17","grch37_coordinates":null,"grch38_coordinates":[14194598,15567587],"tags":["SV/CNV"],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37430-Loss","verbose_name":"Miller-Dieker syndrome, chromosome 17p13.3 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":[],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Miller-Dieker lissencephaly syndrome, MIM#\t247200"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"17","grch37_coordinates":null,"grch38_coordinates":[1344539,2685615],"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":[]}}]}