{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=290","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=288","results":[{"gene_data":{"alias":["KIAA0610","TAHCCP1"],"biotype":"protein_coding","hgnc_id":"HGNC:18514","gene_name":"spartin","omim_gene":["607111"],"alias_name":["spartin"],"gene_symbol":"SPART","hgnc_symbol":"SPART","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:36875775-36944317","ensembl_id":"ENSG00000133104"}},"GRch38":{"90":{"location":"13:36301638-36370180","ensembl_id":"ENSG00000133104"}}},"hgnc_date_symbol_changed":"2017-05-30"},"entity_type":"gene","entity_name":"SPART","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:30129","gene_name":"POP1 homolog, ribonuclease P/MRP subunit","omim_gene":["602486"],"alias_name":["processing of precursors 1"],"gene_symbol":"POP1","hgnc_symbol":"POP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:99129525-99172062","ensembl_id":"ENSG00000104356"}},"GRch38":{"90":{"location":"8:98117297-98159834","ensembl_id":"ENSG00000104356"}}},"hgnc_date_symbol_changed":"2004-03-17"},"entity_type":"gene","entity_name":"POP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["21455487","27380734","28067412"],"evidence":["Expert Review Green","Expert list","Literature"],"phenotypes":["Anauxetic dysplasia 2, OMIM:617396","Anauxetic dysplasia 2, MONDO:0054561"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":28,"hash_id":null,"name":"Skeletal Dysplasia_Fetal","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.","status":"public","version":"0.246","version_created":"2026-03-02T10:22:48.751874+11:00","relevant_disorders":[],"stats":{"number_of_genes":157,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CEV14","Trip230","GMAP-210","GMAP210"],"biotype":"protein_coding","hgnc_id":"HGNC:12305","gene_name":"thyroid hormone receptor interactor 11","omim_gene":["604505"],"alias_name":["golgi-microtubule-associated-protein of 210 kDa"],"gene_symbol":"TRIP11","hgnc_symbol":"TRIP11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:92432335-92507240","ensembl_id":"ENSG00000100815"}},"GRch38":{"90":{"location":"14:91965991-92040896","ensembl_id":"ENSG00000100815"}}},"hgnc_date_symbol_changed":"1999-03-19"},"entity_type":"gene","entity_name":"TRIP11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20089971"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Melbourne Genomics Health Alliance Perinatal Autopsy Flagship"],"phenotypes":["Achondrogenesis, type IA, MIM# 200600"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":28,"hash_id":null,"name":"Skeletal Dysplasia_Fetal","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.","status":"public","version":"0.246","version_created":"2026-03-02T10:22:48.751874+11:00","relevant_disorders":[],"stats":{"number_of_genes":157,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DA9"],"biotype":"protein_coding","hgnc_id":"HGNC:3604","gene_name":"fibrillin 2","omim_gene":["612570"],"alias_name":["fibrillin 5"],"gene_symbol":"FBN2","hgnc_symbol":"FBN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:127593601-127994878","ensembl_id":"ENSG00000138829"}},"GRch38":{"90":{"location":"5:128257909-128659185","ensembl_id":"ENSG00000138829"}}},"hgnc_date_symbol_changed":"1991-08-21"},"entity_type":"gene","entity_name":"FBN2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33571691"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Contractural arachnodactyly, congenital, MIM# 121050"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":44,"hash_id":null,"name":"Aortopathy_Connective Tissue Disorders","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt contains genes that cause isolated thoracic aortic aneurysm; connective tissue disorders, including Ehlers Danlos syndromes and cutis laxa; and other syndromic/multi-system disorders where connective tissue involvement is prominent.\r\n\r\nThis panel incorporates assessments from the ClinGen Familial Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel (PMID: 30071989) and the  \r\nThe 2017 international classification of the Ehlers-Danlos syndromes (PMID: 28306229).\r\n\r\nThe panel has been compared against the Genomics England PanelApp 'Thoracic Aortic Aneurysm and Dissection' and 'Ehlers Danlos syndrome' panels, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England.\r\n\r\nFurther comparison and consolidation undertaken against the Genomics England/GMS 'Thoracic aortic aneurysm and dissection' panel V4.0 in July 2025.","status":"public","version":"1.105","version_created":"2026-02-05T18:09:24.690760+11:00","relevant_disorders":["Aortic aneurysm","HP:0004942;Joint dislocation","HP:0001373;Cutis laxa","HP:0000973; Ectopia lentis","HP:0001083;Arachnodactyly","HP:0001166"],"stats":{"number_of_genes":100,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TGT"],"biotype":"protein_coding","hgnc_id":"HGNC:12612","gene_name":"ubiquitin specific peptidase 14","omim_gene":["607274"],"alias_name":null,"gene_symbol":"USP14","hgnc_symbol":"USP14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:158383-214629","ensembl_id":"ENSG00000101557"}},"GRch38":{"90":{"location":"18:158383-214629","ensembl_id":"ENSG00000101557"}}},"hgnc_date_symbol_changed":"1999-02-01"},"entity_type":"gene","entity_name":"USP14","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 35066879"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Syndromic disease MONDO:0002254, USP14-related","Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CD40L","TRAP","gp39","hCD40L","CD154"],"biotype":"protein_coding","hgnc_id":"HGNC:11935","gene_name":"CD40 ligand","omim_gene":["300386"],"alias_name":["CD40 antigen ligand","tumor necrosis factor (ligand) superfamily member 5","T-B cell-activating molecule","TNF-related activation protein","hyper-IgM syndrome"],"gene_symbol":"CD40LG","hgnc_symbol":"CD40LG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:135730352-135742549","ensembl_id":"ENSG00000102245"}},"GRch38":{"90":{"location":"X:136648193-136660390","ensembl_id":"ENSG00000102245"}}},"hgnc_date_symbol_changed":"2005-01-14"},"entity_type":"gene","entity_name":"CD40LG","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency with Hyper-IgM type 1"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0982"],"biotype":"protein_coding","hgnc_id":"HGNC:31406","gene_name":"WD repeat domain 37","omim_gene":null,"alias_name":null,"gene_symbol":"WDR37","hgnc_symbol":"WDR37","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:1095478-1178237","ensembl_id":"ENSG00000047056"}},"GRch38":{"90":{"location":"10:1049538-1132297","ensembl_id":"ENSG00000047056"}}},"hgnc_date_symbol_changed":"2004-04-06"},"entity_type":"gene","entity_name":"WDR37","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31327508"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neurooculocardiogenitourinary syndrome (MIM#618652)"],"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":["KIAA1395","ZIR1"],"biotype":"protein_coding","hgnc_id":"HGNC:19189","gene_name":"dedicator of cytokinesis 6","omim_gene":["614194"],"alias_name":null,"gene_symbol":"DOCK6","hgnc_symbol":"DOCK6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:11309971-11373157","ensembl_id":"ENSG00000130158"}},"GRch38":{"90":{"location":"19:11199295-11262481","ensembl_id":"ENSG00000130158"}}},"hgnc_date_symbol_changed":"2003-11-19"},"entity_type":"gene","entity_name":"DOCK6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25824905","34114234"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Adams-Oliver syndrome 2 MIM#614219"],"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:6990","gene_name":"methyl-CpG binding protein 2","omim_gene":["300005"],"alias_name":null,"gene_symbol":"MECP2","hgnc_symbol":"MECP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153287024-153363212","ensembl_id":"ENSG00000169057"}},"GRch38":{"90":{"location":"X:154021573-154137103","ensembl_id":"ENSG00000169057"}}},"hgnc_date_symbol_changed":"1996-09-03"},"entity_type":"gene","entity_name":"MECP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30542205","33528536","38693247"],"evidence":["Expert Review Green","Literature","Expert list"],"phenotypes":["Encephalopathy, neonatal severe - 300673","Intellectual developmental disorder, X-linked syndromic, Lubs type - 300260","Intellectual developmental disorder, X-linked, syndromic 13 - 300055","Rett syndrome - 312750"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1970","MSE1"],"biotype":"protein_coding","hgnc_id":"HGNC:29419","gene_name":"glutamyl-tRNA synthetase 2, mitochondrial","omim_gene":["612799"],"alias_name":["glutamate tRNA ligase 2, mitochondrial"],"gene_symbol":"EARS2","hgnc_symbol":"EARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:23533335-23569052","ensembl_id":"ENSG00000103356"}},"GRch38":{"90":{"location":"16:23522014-23557731","ensembl_id":"ENSG00000103356"}}},"hgnc_date_symbol_changed":"2006-04-04"},"entity_type":"gene","entity_name":"EARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33528536","34364746"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cerebral Palsy","Combined oxidative phosphorylation deficiency 12 MIM# 614924"],"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":["NEU","HER-2","CD340","HER2"],"biotype":"protein_coding","hgnc_id":"HGNC:3430","gene_name":"erb-b2 receptor tyrosine kinase 2","omim_gene":["164870"],"alias_name":["neuro/glioblastoma derived oncogene homolog","human epidermal growth factor receptor 2"],"gene_symbol":"ERBB2","hgnc_symbol":"ERBB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:37844167-37886679","ensembl_id":"ENSG00000141736"}},"GRch38":{"90":{"location":"17:39687914-39730426","ensembl_id":"ENSG00000141736"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ERBB2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["40329538"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Congenital heart disease - left ventricular outflow tract obstruction defects","MONDO:0005453"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"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":[]},"transcript":null},{"gene_data":{"alias":["Dwfc","JV5-1"],"biotype":"protein_coding","hgnc_id":"HGNC:6771","gene_name":"SMAD family member 5","omim_gene":["603110"],"alias_name":null,"gene_symbol":"SMAD5","hgnc_symbol":"SMAD5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:135468534-135524435","ensembl_id":"ENSG00000113658"}},"GRch38":{"90":{"location":"5:136132845-136188747","ensembl_id":"ENSG00000113658"}}},"hgnc_date_symbol_changed":"2004-05-26"},"entity_type":"gene","entity_name":"SMAD5","confidence_level":"3","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":["PMID: 40619738"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Congenital heart disease, MONDO:0005453, SMAD5-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"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":[]},"transcript":null},{"gene_data":{"alias":["MASP"],"biotype":"protein_coding","hgnc_id":"HGNC:6901","gene_name":"mannan binding lectin serine peptidase 1","omim_gene":["600521"],"alias_name":["C4/C2 activating component of Ra-reactive factor"],"gene_symbol":"MASP1","hgnc_symbol":"MASP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:186935942-187009810","ensembl_id":"ENSG00000127241"}},"GRch38":{"90":{"location":"3:187217285-187292022","ensembl_id":"ENSG00000127241"}}},"hgnc_date_symbol_changed":"1995-07-06"},"entity_type":"gene","entity_name":"MASP1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["7677137","21258343"],"evidence":["Expert Review Green","Literature"],"phenotypes":["3MC syndrome, MIM#257920"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":93,"hash_id":null,"name":"Craniosynostosis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH. It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.","status":"public","version":"1.85","version_created":"2026-04-07T13:46:55.940488+10:00","relevant_disorders":["Craniosynostosis HP:0001363"],"stats":{"number_of_genes":105,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:15533","gene_name":"sprouty RTK signaling antagonist 4","omim_gene":["607984"],"alias_name":null,"gene_symbol":"SPRY4","hgnc_symbol":"SPRY4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:141689992-141706020","ensembl_id":"ENSG00000187678"}},"GRch38":{"90":{"location":"5:142310427-142326455","ensembl_id":"ENSG00000187678"}}},"hgnc_date_symbol_changed":"2002-01-22"},"entity_type":"gene","entity_name":"SPRY4","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["23643382"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Hypogonadotropic hypogonadism 17 with or without anosmia, MIM#\t615266"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"panel":{"id":99,"hash_id":null,"name":"Differences of Sex Development","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.47","version_created":"2026-04-06T10:50:25.990411+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":141,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SERCA2"],"biotype":"protein_coding","hgnc_id":"HGNC:812","gene_name":"ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2","omim_gene":["108740"],"alias_name":["sarcoplasmic/endoplasmic reticulum calcium ATPase 2","calcium pump 2"],"gene_symbol":"ATP2A2","hgnc_symbol":"ATP2A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:110718561-110788898","ensembl_id":"ENSG00000174437"}},"GRch38":{"90":{"location":"12:110280756-110351093","ensembl_id":"ENSG00000174437"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"ATP2A2","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["10441324","17635506"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Darier disease\t(MIM#124200)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":101,"hash_id":null,"name":"Epidermolysis bullosa","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.","status":"public","version":"1.27","version_created":"2026-03-08T22:19:30.435795+11:00","relevant_disorders":["Abnormal blistering of the skin","HP:0008066"],"stats":{"number_of_genes":46,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BP180"],"biotype":"protein_coding","hgnc_id":"HGNC:2194","gene_name":"collagen type XVII alpha 1 chain","omim_gene":["113811"],"alias_name":null,"gene_symbol":"COL17A1","hgnc_symbol":"COL17A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:105791044-105845760","ensembl_id":"ENSG00000065618"}},"GRch38":{"90":{"location":"10:104031286-104086002","ensembl_id":"ENSG00000065618"}}},"hgnc_date_symbol_changed":"1993-09-27"},"entity_type":"gene","entity_name":"COL17A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Epidermolysis bullosa, junctional, localisata variant, MIM# 226650","Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650","Epithelial recurrent erosion dystrophy, MIM# 122400"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":101,"hash_id":null,"name":"Epidermolysis bullosa","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.","status":"public","version":"1.27","version_created":"2026-03-08T22:19:30.435795+11:00","relevant_disorders":["Abnormal blistering of the skin","HP:0008066"],"stats":{"number_of_genes":46,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OB","CAD11"],"biotype":"protein_coding","hgnc_id":"HGNC:1750","gene_name":"cadherin 11","omim_gene":["600023"],"alias_name":["OB-Cadherin"],"gene_symbol":"CDH11","hgnc_symbol":"CDH11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:64977656-65160015","ensembl_id":"ENSG00000140937"}},"GRch38":{"90":{"location":"16:64943753-65126112","ensembl_id":"ENSG00000140937"}}},"hgnc_date_symbol_changed":"1995-03-30"},"entity_type":"gene","entity_name":"CDH11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33811546"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Teebi hypertelorism syndrome, MONDO:0030639"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":104,"hash_id":null,"name":"Frontonasal dysplasia","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with frontonasal dysplasia, a craniofacial disorder defined as 2 or more of the following:\r\n(1) true ocular hypertelorism;\r\n(2) broadening of the nasal root;\r\n(3) median facial cleft affecting the nose and/or upper lip and palate;\r\n(4) unilateral or bilateral clefting of the alae nasi;\r\n(5) lack of formation of the nasal tip;\r\n(6) anterior cranium bifidum occultum; and \r\n(7) a V-shaped or widow's peak frontal hairline.","status":"public","version":"1.3","version_created":"2025-10-26T17:18:38.360530+11:00","relevant_disorders":["Midline defect of the nose","HP:0004122; Midline facial cleft","HP:0100629; Cranium bifidum occultum","HP:0004423"],"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Ang2"],"biotype":"protein_coding","hgnc_id":"HGNC:485","gene_name":"angiopoietin 2","omim_gene":["601922"],"alias_name":null,"gene_symbol":"ANGPT2","hgnc_symbol":"ANGPT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:6357172-6420930","ensembl_id":"ENSG00000091879"}},"GRch38":{"90":{"location":"8:6499651-6563409","ensembl_id":"ENSG00000091879"}}},"hgnc_date_symbol_changed":"1997-07-22"},"entity_type":"gene","entity_name":"ANGPT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32908006","34876502"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Lymphatic malformation-10, MIM#619369","Primary lymphoedema Hydrops"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RIP"],"biotype":"protein_coding","hgnc_id":"HGNC:10019","gene_name":"receptor interacting serine/threonine kinase 1","omim_gene":["603453"],"alias_name":["receptor-interacting protein kinase 1"],"gene_symbol":"RIPK1","hgnc_symbol":"RIPK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:3064225-3115421","ensembl_id":"ENSG00000137275"}},"GRch38":{"90":{"location":"6:3063991-3115187","ensembl_id":"ENSG00000137275"}}},"hgnc_date_symbol_changed":"1999-05-07"},"entity_type":"gene","entity_name":"RIPK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30026316","30591564","31213653"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Immunodeficiency 57, MIM#618108"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":123,"hash_id":null,"name":"Inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.126","version_created":"2025-10-16T15:50:33.114198+11:00","relevant_disorders":["Gastrointestinal inflammation","HP:0004386"],"stats":{"number_of_genes":85,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ROCO2","DKFZp434H2111","FLJ45829","RIPK7"],"biotype":"protein_coding","hgnc_id":"HGNC:18618","gene_name":"leucine rich repeat kinase 2","omim_gene":["609007"],"alias_name":null,"gene_symbol":"LRRK2","hgnc_symbol":"LRRK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:40590546-40763087","ensembl_id":"ENSG00000188906"}},"GRch38":{"90":{"location":"12:40196744-40369285","ensembl_id":"ENSG00000188906"}}},"hgnc_date_symbol_changed":"2004-10-22"},"entity_type":"gene","entity_name":"LRRK2","confidence_level":"3","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":["20301387","17200152","15541308","16172858","17060595","31038182","27521182","28487191"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Parkinson Disease type 8 (MONDO:0005180, MIM#607060)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["adult onset neurodegenerative"],"panel":{"id":126,"hash_id":null,"name":"Incidentalome","disease_group":"","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["COMT2","CFAP111"],"biotype":"protein_coding","hgnc_id":"HGNC:25033","gene_name":"leucine rich transmembrane and O-methyltransferase domain containing","omim_gene":["612414"],"alias_name":null,"gene_symbol":"LRTOMT","hgnc_symbol":"LRTOMT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:71791382-71821828","ensembl_id":"ENSG00000184154"}},"GRch38":{"90":{"location":"11:72080331-72110782","ensembl_id":"ENSG00000184154"}}},"hgnc_date_symbol_changed":"2008-11-27"},"entity_type":"gene","entity_name":"LRTOMT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18953341","18794526","21739586","18794526"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal recessive 63, MIM# 611451"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ38614","DKFZp547I1315","DKFZp781D1727","DKFZp686E01200"],"biotype":"protein_coding","hgnc_id":"HGNC:1917","gene_name":"chromodomain helicase DNA binding protein 2","omim_gene":["602119"],"alias_name":null,"gene_symbol":"CHD2","hgnc_symbol":"CHD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:93426526-93571237","ensembl_id":"ENSG00000173575"}},"GRch38":{"90":{"location":"15:92900189-93028005","ensembl_id":"ENSG00000173575"}}},"hgnc_date_symbol_changed":"1998-03-20"},"entity_type":"gene","entity_name":"CHD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Epileptic encephalopathy, childhood-onset (MIM # 615369)"],"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. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4736","version_created":"2026-04-11T11:19:25.397495+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CPRP1","KIAA0214","MARF","CMT2A2"],"biotype":"protein_coding","hgnc_id":"HGNC:16877","gene_name":"mitofusin 2","omim_gene":["608507"],"alias_name":null,"gene_symbol":"MFN2","hgnc_symbol":"MFN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:12040238-12073571","ensembl_id":"ENSG00000116688"}},"GRch38":{"90":{"location":"1:11980181-12013514","ensembl_id":"ENSG00000116688"}}},"hgnc_date_symbol_changed":"2003-02-25"},"entity_type":"gene","entity_name":"MFN2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15064763","15549395","16437557","20008656"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Charcot-Marie-Tooth disease, axonal, type 2A2A 609260","Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087","Hereditary motor and sensory neuropathy VIA, MIM# 601152","Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OIASI","IFI-4"],"biotype":"protein_coding","hgnc_id":"HGNC:8086","gene_name":"2'-5'-oligoadenylate synthetase 1","omim_gene":["164350"],"alias_name":null,"gene_symbol":"OAS1","hgnc_symbol":"OAS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:113344582-113369990","ensembl_id":"ENSG00000089127"}},"GRch38":{"90":{"location":"12:112906777-112933222","ensembl_id":"ENSG00000089127"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"OAS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["34145065","29455859"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GAP1M"],"biotype":"protein_coding","hgnc_id":"HGNC:9872","gene_name":"RAS p21 protein activator 2","omim_gene":["601589"],"alias_name":null,"gene_symbol":"RASA2","hgnc_symbol":"RASA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:141205889-141334184","ensembl_id":"ENSG00000155903"}},"GRch38":{"90":{"location":"3:141487047-141615342","ensembl_id":"ENSG00000155903"}}},"hgnc_date_symbol_changed":"1996-11-15"},"entity_type":"gene","entity_name":"RASA2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Noonan syndrome MONDO:0018997, RASA2-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. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4736","version_created":"2026-04-11T11:19:25.397495+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ11856","PAR1","GPCR41","D15Ertd747e","RFVT2","hRFT3"],"biotype":"protein_coding","hgnc_id":"HGNC:30224","gene_name":"solute carrier family 52 member 2","omim_gene":["607882"],"alias_name":null,"gene_symbol":"SLC52A2","hgnc_symbol":"SLC52A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:145577795-145584932","ensembl_id":"ENSG00000185803"}},"GRch38":{"90":{"location":"8:144354135-144361272","ensembl_id":"ENSG00000185803"}}},"hgnc_date_symbol_changed":"2012-02-29"},"entity_type":"gene","entity_name":"SLC52A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Brown-Vialetto-Van Laere syndrome 2, MIM# 614707"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4736","version_created":"2026-04-11T11:19:25.397495+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10387","SZT2B","RP11-506B15.1","FLJ34502","SZT2A"],"biotype":"protein_coding","hgnc_id":"HGNC:29040","gene_name":"SZT2, KICSTOR complex subunit","omim_gene":["615463"],"alias_name":["seizure threshold 2 homolog A (mouse)","seizure threshold 2 homolog B (mouse)"],"gene_symbol":"SZT2","hgnc_symbol":"SZT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:43855553-43918321","ensembl_id":"ENSG00000198198"}},"GRch38":{"90":{"location":"1:43389882-43454247","ensembl_id":"ENSG00000198198"}}},"hgnc_date_symbol_changed":"2011-06-10"},"entity_type":"gene","entity_name":"SZT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23932106","30560016","30359774","28556953","32402703"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Developmental and epileptic encephalopathy 18, OMIM #615476"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4736","version_created":"2026-04-11T11:19:25.397495+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KRT6IRS","KRT6IRS1","K6IRS1"],"biotype":"protein_coding","hgnc_id":"HGNC:28927","gene_name":"keratin 71","omim_gene":["608245"],"alias_name":null,"gene_symbol":"KRT71","hgnc_symbol":"KRT71","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52937693-52946931","ensembl_id":"ENSG00000139648"}},"GRch38":{"90":{"location":"12:52543909-52553147","ensembl_id":"ENSG00000139648"}}},"hgnc_date_symbol_changed":"2006-07-17"},"entity_type":"gene","entity_name":"KRT71","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["14632181","22592156","19713490"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["?Hypotrichosis 13, 615896"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Kv1.3","MK3","HLK3","HPCN3"],"biotype":"protein_coding","hgnc_id":"HGNC:6221","gene_name":"potassium voltage-gated channel subfamily A member 3","omim_gene":["176263"],"alias_name":null,"gene_symbol":"KCNA3","hgnc_symbol":"KCNA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:111214310-111217655","ensembl_id":"ENSG00000177272"}},"GRch38":{"90":{"location":"1:110672465-110675033","ensembl_id":"ENSG00000177272"}}},"hgnc_date_symbol_changed":"1991-08-13"},"entity_type":"gene","entity_name":"KCNA3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37964487"],"evidence":["Expert Review Green","Other"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, KCNA3-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":"1.4736","version_created":"2026-04-11T11:19:25.397495+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["B-50","PP46"],"biotype":"protein_coding","hgnc_id":"HGNC:4140","gene_name":"growth associated protein 43","omim_gene":["162060"],"alias_name":["neuron growth-associated protein 43","neuromodulin","nerve growth-related peptide GAP43","axonal membrane protein GAP-43","protein F1","calmodulin-binding protein P-57","neural phosphoprotein B-50"],"gene_symbol":"GAP43","hgnc_symbol":"GAP43","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:115342171-115440337","ensembl_id":"ENSG00000172020"}},"GRch38":{"90":{"location":"3:115623324-115721490","ensembl_id":"ENSG00000172020"}}},"hgnc_date_symbol_changed":"1990-07-10"},"entity_type":"gene","entity_name":"GAP43","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["39738362"],"evidence":["Expert Review Red","Literature"],"phenotypes":["neurodevelopmental disorder, MONDO:0700092"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HDCMA18P","PIP7S","DKFZP564K112"],"biotype":"protein_coding","hgnc_id":"HGNC:24912","gene_name":"La ribonucleoprotein domain family member 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developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp586M121","gp115"],"biotype":"protein_coding","hgnc_id":"HGNC:19880","gene_name":"elastin microfibril interfacer 1","omim_gene":["130660"],"alias_name":null,"gene_symbol":"EMILIN1","hgnc_symbol":"EMILIN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:27301435-27309271","ensembl_id":"ENSG00000138080"}},"GRch38":{"90":{"location":"2:27078567-27086408","ensembl_id":"ENSG00000138080"}}},"hgnc_date_symbol_changed":"2003-07-16"},"entity_type":"gene","entity_name":"EMILIN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36351433"],"evidence":["Expert Review Green","Literature"],"phenotypes":["arterial tortuosity-bone fragility syndrome MONDO:0971179"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":147,"hash_id":null,"name":"Osteogenesis Imperfecta and Osteoporosis","disease_group":"Skeletal disorders; Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with osteogenesis imperfecta and osteoporosis. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Osteogenesis imperfecta' panel V5.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.18","version_created":"2026-02-22T14:59:29.563350+11:00","relevant_disorders":["Increased susceptibility to fractures","HP:0002659"],"stats":{"number_of_genes":48,"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":[]},{"gene_data":{"alias":["KIAA0978"],"biotype":"protein_coding","hgnc_id":"HGNC:18318","gene_name":"additional sex combs like 1, transcriptional regulator","omim_gene":["612990"],"alias_name":null,"gene_symbol":"ASXL1","hgnc_symbol":"ASXL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:30946155-31027122","ensembl_id":"ENSG00000171456"}},"GRch38":{"90":{"location":"20:32358344-32439319","ensembl_id":"ENSG00000171456"}}},"hgnc_date_symbol_changed":"2002-03-06"},"entity_type":"gene","entity_name":"ASXL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29446906"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Bohring-Opitz syndrome , MIM#605039","Wilms tumour"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":152,"hash_id":null,"name":"Cancer Predisposition_Paediatric","disease_group":"Cancer","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.133","version_created":"2026-01-12T09:35:45.797477+11:00","relevant_disorders":[],"stats":{"number_of_genes":106,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ADAR1"],"biotype":"protein_coding","hgnc_id":"HGNC:225","gene_name":"adenosine deaminase, RNA specific","omim_gene":["146920"],"alias_name":null,"gene_symbol":"ADAR","hgnc_symbol":"ADAR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:154554538-154600475","ensembl_id":"ENSG00000160710"}},"GRch38":{"90":{"location":"1:154582062-154627999","ensembl_id":"ENSG00000160710"}}},"hgnc_date_symbol_changed":"1995-12-12"},"entity_type":"gene","entity_name":"ADAR","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Dyschromatosis symmetrica hereditaria , MIM#127400"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":156,"hash_id":null,"name":"Photosensitivity Syndromes","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with photosensitivity, in particular DNA repair disorders and porphyrias.","status":"public","version":"1.11","version_created":"2025-12-08T10:32:19.181318+11:00","relevant_disorders":["Cutaneous photosensitivity","HP:0000992"],"stats":{"number_of_genes":28,"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":["FLJ20069","ORF1","JBTS3"],"biotype":"protein_coding","hgnc_id":"HGNC:21575","gene_name":"Abelson helper integration site 1","omim_gene":["608894"],"alias_name":["Jouberin"],"gene_symbol":"AHI1","hgnc_symbol":"AHI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:135604670-135818914","ensembl_id":"ENSG00000135541"}},"GRch38":{"90":{"location":"6:135283532-135497776","ensembl_id":"ENSG00000135541"}}},"hgnc_date_symbol_changed":"2003-08-22"},"entity_type":"gene","entity_name":"AHI1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 3, MIM#\t608629"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":159,"hash_id":null,"name":"Polydactyly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes that cause syndromic and non-syndromic polydactyly.","status":"public","version":"0.301","version_created":"2026-03-12T11:30:58.449890+11:00","relevant_disorders":["Polydactyly","HP:0010442"],"stats":{"number_of_genes":141,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HKLP2","NY-BR-62"],"biotype":"protein_coding","hgnc_id":"HGNC:17273","gene_name":"kinesin family member 15","omim_gene":["617569"],"alias_name":null,"gene_symbol":"KIF15","hgnc_symbol":"KIF15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:44803209-44914868","ensembl_id":"ENSG00000163808"}},"GRch38":{"90":{"location":"3:44761717-44873376","ensembl_id":"ENSG00000163808"}}},"hgnc_date_symbol_changed":"2005-03-17"},"entity_type":"gene","entity_name":"KIF15","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["28150392"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Braddock-Carey syndrome 2 - MIM#619981"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":160,"hash_id":null,"name":"Pierre Robin Sequence","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.61","version_created":"2026-01-26T17:52:14.382309+11:00","relevant_disorders":["Pierre Robin sequence","HP:0000201"],"stats":{"number_of_genes":54,"number_of_strs":1,"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":["SLB","wim","osm-1","NPHP17","BBS20"],"biotype":"protein_coding","hgnc_id":"HGNC:30391","gene_name":"intraflagellar transport 172","omim_gene":["607386"],"alias_name":["wimple homolog"],"gene_symbol":"IFT172","hgnc_symbol":"IFT172","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:27667238-27712656","ensembl_id":"ENSG00000138002"}},"GRch38":{"90":{"location":"2:27444371-27489789","ensembl_id":"ENSG00000138002"}}},"hgnc_date_symbol_changed":"2005-11-02"},"entity_type":"gene","entity_name":"IFT172","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24140113"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":179,"hash_id":null,"name":"Skeletal Ciliopathies","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. \r\n\r\nThis panel contains genes associated with skeletal ciliopathies (including short rib polydactyly and jeune asphyxiating thoracic dystrophy).\r\n\r\nIt has been compared against the Genomics England PanelApp Skeletal Ciliopathy panel, with all differences resolved and reciprocal feedback provided to Genomics England, 24/05/2020.\r\n\r\nConsider applying the broader Skeletal Dysplasia panel if the clinical presentation is not entirely typical of a skeletal ciliopathy.","status":"public","version":"1.23","version_created":"2026-02-26T20:48:41.390236+11:00","relevant_disorders":["Short rib","HP:0000773; Polydactyly","HP:0010442; Bell-shaped thorax","HP:0001591"],"stats":{"number_of_genes":37,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KARS2","KARS1"],"biotype":"protein_coding","hgnc_id":"HGNC:6215","gene_name":"lysyl-tRNA synthetase","omim_gene":["601421"],"alias_name":["lysine tRNA ligase"],"gene_symbol":"KARS","hgnc_symbol":"KARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:75661622-75682541","ensembl_id":"ENSG00000065427"}},"GRch38":{"90":{"location":"16:75627474-75648643","ensembl_id":"ENSG00000065427"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"KARS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26741492","31618474","28887846","25330800","29615062","30252186","28496994","23768514","14975237","33942428"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Leukoencephalopathy, progressive, infantile-onset, with or without deafness MIM#619147"],"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. 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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. 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These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RPC2","FLJ10388"],"biotype":"protein_coding","hgnc_id":"HGNC:30348","gene_name":"RNA polymerase III subunit B","omim_gene":["614366"],"alias_name":null,"gene_symbol":"POLR3B","hgnc_symbol":"POLR3B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:106751436-106903976","ensembl_id":"ENSG00000013503"}},"GRch38":{"90":{"location":"12:106357658-106510198","ensembl_id":"ENSG00000013503"}}},"hgnc_date_symbol_changed":"2004-04-21"},"entity_type":"gene","entity_name":"POLR3B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":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":["PJS","LKB1"],"biotype":"protein_coding","hgnc_id":"HGNC:11389","gene_name":"serine/threonine kinase 11","omim_gene":["602216"],"alias_name":["polarization-related protein LKB1"],"gene_symbol":"STK11","hgnc_symbol":"STK11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:1189406-1228428","ensembl_id":"ENSG00000118046"}},"GRch38":{"90":{"location":"19:1177558-1228435","ensembl_id":"ENSG00000118046"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"STK11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance"],"phenotypes":["Peutz-Jeghers syndrome, MIM# 175200"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FAD","FA-D2"],"biotype":"protein_coding","hgnc_id":"HGNC:3585","gene_name":"Fanconi anemia complementation group D2","omim_gene":["613984"],"alias_name":null,"gene_symbol":"FANCD2","hgnc_symbol":"FANCD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:10068098-10143614","ensembl_id":"ENSG00000144554"}},"GRch38":{"90":{"location":"3:10026414-10101930","ensembl_id":"ENSG00000144554"}}},"hgnc_date_symbol_changed":"2001-10-05"},"entity_type":"gene","entity_name":"FANCD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Fanconi anaemia, complementation group D2, MIM# 227646"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["WIP"],"biotype":"protein_coding","hgnc_id":"HGNC:12736","gene_name":"WAS/WASL interacting protein family member 1","omim_gene":["602357"],"alias_name":null,"gene_symbol":"WIPF1","hgnc_symbol":"WIPF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:175424300-175547644","ensembl_id":"ENSG00000115935"}},"GRch38":{"90":{"location":"2:174559572-174682916","ensembl_id":"ENSG00000115935"}}},"hgnc_date_symbol_changed":"2006-10-12"},"entity_type":"gene","entity_name":"WIPF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22231303","27742395","11869681","14757742"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Wiskott-Aldrich syndrome 2 MIM# 614493","Reduced T cells","defective lymphocyte responses to anti-CD3","high IgE","Thrombocytopenia with or without small platelets","recurrent bacterial and viral Infections","eczema","bloody diarrhoea","gastrointestinal bleeding","WAS protein absent"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":222,"hash_id":null,"name":"Predominantly Antibody Deficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause predominantly antibody deficiency, including:\r\n- Agammaglobulinemia\r\n- Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia \r\n- CVID Phenotype\r\n- Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype\r\n- Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM\r\n- Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.4","version_created":"2025-09-11T18:11:50.640122+10:00","relevant_disorders":["Decreased immunoglobulin level","HP:0041078"],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["WIP"],"biotype":"protein_coding","hgnc_id":"HGNC:12736","gene_name":"WAS/WASL interacting protein family member 1","omim_gene":["602357"],"alias_name":null,"gene_symbol":"WIPF1","hgnc_symbol":"WIPF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:175424300-175547644","ensembl_id":"ENSG00000115935"}},"GRch38":{"90":{"location":"2:174559572-174682916","ensembl_id":"ENSG00000115935"}}},"hgnc_date_symbol_changed":"2006-10-12"},"entity_type":"gene","entity_name":"WIPF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22231303","27742395","11869681","14757742"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Wiskott-Aldrich syndrome 2 MIM# 614493","Reduced T cells","defective lymphocyte responses to anti-CD3","high IgE","Thrombocytopenia with or without small platelets","recurrent bacterial and viral Infections","eczema","bloody diarrhoea","gastrointestinal bleeding","WAS protein absent"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.145","version_created":"2026-03-02T21:55:19.238904+11:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["16.3A5","EJ16","EJ30","EL32","G344","p18-20"],"biotype":"protein_coding","hgnc_id":"HGNC:1689","gene_name":"CD59 molecule (CD59 blood group)","omim_gene":["107271"],"alias_name":null,"gene_symbol":"CD59","hgnc_symbol":"CD59","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:33719807-33757991","ensembl_id":"ENSG00000085063"}},"GRch38":{"90":{"location":"11:33698261-33736445","ensembl_id":"ENSG00000085063"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"CD59","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":224,"hash_id":null,"name":"Complement Deficiencies","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains all the genes that are associated with complement deficiencies.\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.2","version_created":"2025-10-30T13:50:05.331358+11:00","relevant_disorders":["Abnormality of complement system","HP:0005339"],"stats":{"number_of_genes":34,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4862","gene_name":"NCK associated protein 1 like","omim_gene":["141180"],"alias_name":null,"gene_symbol":"NCKAP1L","hgnc_symbol":"NCKAP1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:54891495-54937726","ensembl_id":"ENSG00000123338"}},"GRch38":{"90":{"location":"12:54497711-54548238","ensembl_id":"ENSG00000123338"}}},"hgnc_date_symbol_changed":"2005-10-11"},"entity_type":"gene","entity_name":"NCKAP1L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32647003"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Immunodeficiency","Immune dysregulation","Immunodeficiency 72 with autoinflammation, MIM# 618982"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.43","version_created":"2026-04-06T13:01:39.255117+10:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":118,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CGI-120"],"biotype":"protein_coding","hgnc_id":"HGNC:2243","gene_name":"coatomer protein complex subunit zeta 1","omim_gene":["615472"],"alias_name":null,"gene_symbol":"COPZ1","hgnc_symbol":"COPZ1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:54694986-54745633","ensembl_id":"ENSG00000111481"}},"GRch38":{"90":{"location":"12:54301202-54351849","ensembl_id":"ENSG00000111481"}}},"hgnc_date_symbol_changed":"2003-07-23"},"entity_type":"gene","entity_name":"COPZ1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["39642330"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neutropenia, severe congenital, 12, autosomal recessive, MIM# 621439"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":233,"hash_id":null,"name":"Phagocyte Defects","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with abnormalities in phagocyte number, function or both. Susceptibility to infection from phagocytic dysfunction ranges from mild, recurrent skin infections to overwhelming, fatal systemic infection. Affected individuals are more susceptible to bacterial and fungal infections but have a normal resistance to viral infections. Most are diagnosed in infancy due to the severity of the infection or the unusual presentation of the organism, but some are diagnosed in adulthood. Includes:\r\n- Congenital Neutropenias\r\n- Defects of Motility\r\n- Defects of Respiratory Burst\r\n- Other Non-Lymphoid Defects\r\n\r\nUpdated with the 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).\r\n\r\nThis panel was merged with and replaces the Melbourne Genomics Immunology Flagship Neutrophil Defects gene panel (22/03/2021).","status":"public","version":"1.45","version_created":"2025-12-15T10:26:57.519304+11:00","relevant_disorders":["Unusual infection","HP:0032101"],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DPPIV"],"biotype":"protein_coding","hgnc_id":"HGNC:3590","gene_name":"fibroblast activation protein alpha","omim_gene":["600403"],"alias_name":["seprase"],"gene_symbol":"FAP","hgnc_symbol":"FAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:163027194-163101661","ensembl_id":"ENSG00000078098"}},"GRch38":{"90":{"location":"2:162170684-162245151","ensembl_id":"ENSG00000078098"}}},"hgnc_date_symbol_changed":"1995-03-28"},"entity_type":"gene","entity_name":"FAP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":["umccr"],"panel":{"id":243,"hash_id":null,"name":"Immune_markers_WTS_UMCCR","disease_group":"Cancer","disease_sub_group":"","description":"Author: Jacek Marzec, jacek.marzec@unimelb.edu.au\r\n\r\nPurpose: panel of immune markers used to assess pre-existing anti-cancer immunity and likelihood of response to immunotherapy. This set of genes is used in UMCCR WTS report \"Immune markers\" section\r\n\r\nSource: https://www.omniseq.com\r\n\r\nGithub: https://github.com/umccr/RNAsum","status":"public","version":"0.77","version_created":"2025-11-03T15:30:48.145923+11:00","relevant_disorders":[],"stats":{"number_of_genes":71,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OX-40L","gp34","CD252"],"biotype":"protein_coding","hgnc_id":"HGNC:11934","gene_name":"TNF superfamily member 4","omim_gene":["603594"],"alias_name":null,"gene_symbol":"TNFSF4","hgnc_symbol":"TNFSF4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:173152873-173176452","ensembl_id":"ENSG00000117586"}},"GRch38":{"90":{"location":"1:173183734-173207313","ensembl_id":"ENSG00000117586"}}},"hgnc_date_symbol_changed":"1993-12-15"},"entity_type":"gene","entity_name":"TNFSF4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":["umccr"],"panel":{"id":243,"hash_id":null,"name":"Immune_markers_WTS_UMCCR","disease_group":"Cancer","disease_sub_group":"","description":"Author: Jacek Marzec, jacek.marzec@unimelb.edu.au\r\n\r\nPurpose: panel of immune markers used to assess pre-existing anti-cancer immunity and likelihood of response to immunotherapy. 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The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.256","version_created":"2026-03-31T19:05:29.271183+11:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":138,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["EF-Tsmt","EF-TS"],"biotype":"protein_coding","hgnc_id":"HGNC:12367","gene_name":"Ts translation elongation factor, mitochondrial","omim_gene":["604723"],"alias_name":null,"gene_symbol":"TSFM","hgnc_symbol":"TSFM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:58176372-58201854","ensembl_id":"ENSG00000123297"}},"GRch38":{"90":{"location":"12:57782589-57808071","ensembl_id":"ENSG00000123297"}}},"hgnc_date_symbol_changed":"1999-05-25"},"entity_type":"gene","entity_name":"TSFM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Combined oxidative phosphorylation deficiency 3, 610505 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP564F0923","KIAA1471","HD-PTP"],"biotype":"protein_coding","hgnc_id":"HGNC:14406","gene_name":"protein tyrosine phosphatase, non-receptor type 23","omim_gene":["606584"],"alias_name":null,"gene_symbol":"PTPN23","hgnc_symbol":"PTPN23","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:47422501-47454931","ensembl_id":"ENSG00000076201"}},"GRch38":{"90":{"location":"3:47381011-47413441","ensembl_id":"ENSG00000076201"}}},"hgnc_date_symbol_changed":"2001-02-15"},"entity_type":"gene","entity_name":"PTPN23","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["31395947","29899372","29090338","27848944","25558065"],"evidence":["Expert list"],"phenotypes":["Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CIP98","USH2D","PDZD7B"],"biotype":"protein_coding","hgnc_id":"HGNC:16361","gene_name":"whirlin","omim_gene":["607928"],"alias_name":null,"gene_symbol":"WHRN","hgnc_symbol":"WHRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:117164360-117267730","ensembl_id":"ENSG00000095397"}},"GRch38":{"90":{"location":"9:114402080-114505450","ensembl_id":"ENSG00000095397"}}},"hgnc_date_symbol_changed":"2016-05-17"},"entity_type":"gene","entity_name":"WHRN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Usher syndrome, type 2D, 611383 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LAP1B","FLJ13142"],"biotype":"protein_coding","hgnc_id":"HGNC:29456","gene_name":"torsin 1A interacting protein 1","omim_gene":["614512"],"alias_name":["lamina associated polypeptide 1B"],"gene_symbol":"TOR1AIP1","hgnc_symbol":"TOR1AIP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:179851177-179894135","ensembl_id":"ENSG00000143337"}},"GRch38":{"90":{"location":"1:179882042-179925000","ensembl_id":"ENSG00000143337"}}},"hgnc_date_symbol_changed":"2005-06-07"},"entity_type":"gene","entity_name":"TOR1AIP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24856141","27342937","32055997","25425325"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072","Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CMD1P"],"biotype":"protein_coding","hgnc_id":"HGNC:9080","gene_name":"phospholamban","omim_gene":["172405"],"alias_name":null,"gene_symbol":"PLN","hgnc_symbol":"PLN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:118869461-118881893","ensembl_id":"ENSG00000198523"}},"GRch38":{"90":{"location":"6:118548298-118560730","ensembl_id":"ENSG00000198523"}}},"hgnc_date_symbol_changed":"1991-08-22"},"entity_type":"gene","entity_name":"PLN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","South West GLH","NHS GMS"],"phenotypes":["Cardiomyopathy, familial hypertrophic, 18,","Cardiomyopathy, dilated, 1P"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:27960","gene_name":"solute carrier family 6 member 19","omim_gene":["608893"],"alias_name":["Hartnup disease"],"gene_symbol":"SLC6A19","hgnc_symbol":"SLC6A19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1201710-1225232","ensembl_id":"ENSG00000174358"}},"GRch38":{"90":{"location":"5:1201595-1225117","ensembl_id":"ENSG00000174358"}}},"hgnc_date_symbol_changed":"2004-04-02"},"entity_type":"gene","entity_name":"SLC6A19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene"],"phenotypes":["Hartnup disorder, MIM # 234500"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6595","gene_name":"LIM homeobox 3","omim_gene":["600577"],"alias_name":null,"gene_symbol":"LHX3","hgnc_symbol":"LHX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139088096-139096955","ensembl_id":"ENSG00000107187"}},"GRch38":{"90":{"location":"9:136196250-136205109","ensembl_id":"ENSG00000107187"}}},"hgnc_date_symbol_changed":"2000-03-22"},"entity_type":"gene","entity_name":"LHX3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Pituitary hormone deficiency, combined"],"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":["FAD","FA-D2"],"biotype":"protein_coding","hgnc_id":"HGNC:3585","gene_name":"Fanconi anemia complementation group D2","omim_gene":["613984"],"alias_name":null,"gene_symbol":"FANCD2","hgnc_symbol":"FANCD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:10068098-10143614","ensembl_id":"ENSG00000144554"}},"GRch38":{"90":{"location":"3:10026414-10101930","ensembl_id":"ENSG00000144554"}}},"hgnc_date_symbol_changed":"2001-10-05"},"entity_type":"gene","entity_name":"FANCD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Fanconi anaemia"],"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":["PIC1","GMP1","SMT3C","SUMO-1","SMT3H3","OFC10"],"biotype":"protein_coding","hgnc_id":"HGNC:12502","gene_name":"small ubiquitin-like modifier 1","omim_gene":["601912"],"alias_name":null,"gene_symbol":"SUMO1","hgnc_symbol":"SUMO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:203070903-203103331","ensembl_id":"ENSG00000116030"}},"GRch38":{"90":{"location":"2:202206180-202238608","ensembl_id":"ENSG00000116030"}}},"hgnc_date_symbol_changed":"2004-05-19"},"entity_type":"gene","entity_name":"SUMO1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22492558"],"evidence":["Radboud University Medical Center, Nijmegen","Expert Review Red","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Cleft Lip with or without Cleft Palate","Orofacial cleft 10, 613705"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TMEM226"],"biotype":"protein_coding","hgnc_id":"HGNC:33778","gene_name":"myomaker, myoblast fusion factor","omim_gene":["615345"],"alias_name":["transmembrane protein 226"],"gene_symbol":"MYMK","hgnc_symbol":"MYMK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:136379708-136393734","ensembl_id":"ENSG00000187616"}},"GRch38":{"90":{"location":"9:133514586-133528612","ensembl_id":"ENSG00000187616"}}},"hgnc_date_symbol_changed":"2017-05-11"},"entity_type":"gene","entity_name":"MYMK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28681861"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Carey-Fineman-Ziter syndrome, MIM# 254940"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DPCK","NBP","CoASY","PPAT"],"biotype":"protein_coding","hgnc_id":"HGNC:29932","gene_name":"Coenzyme A synthase","omim_gene":["609855"],"alias_name":null,"gene_symbol":"COASY","hgnc_symbol":"COASY","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40713485-40718295","ensembl_id":"ENSG00000068120"}},"GRch38":{"90":{"location":"17:42561467-42566277","ensembl_id":"ENSG00000068120"}}},"hgnc_date_symbol_changed":"2004-03-22"},"entity_type":"gene","entity_name":"COASY","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["GeneReviews","Expert Review Green"],"phenotypes":["OMIM 618266)","COASY protein-associated neurodegeneration (CoPAN"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3438,"hash_id":null,"name":"Neurodegeneration with brain iron accumulation","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that are associated with neurodegeneration with brain iron accumulation (NBIA) disorders. Depending on the clinical features present, consider applying additional panels such as the Dystonia Superpanel or Mitochondrial Disorders, which contain overlapping differential diagnoses.","status":"public","version":"1.3","version_created":"2025-11-25T11:21:32.539811+11:00","relevant_disorders":["Iron accumulation in brain","HP:0012675"],"stats":{"number_of_genes":24,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FRA2","FLJ23306"],"biotype":"protein_coding","hgnc_id":"HGNC:3798","gene_name":"FOS like 2, AP-1 transcription factor subunit","omim_gene":["601575"],"alias_name":null,"gene_symbol":"FOSL2","hgnc_symbol":"FOSL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:28615315-28640179","ensembl_id":"ENSG00000075426"}},"GRch38":{"90":{"location":"2:28392448-28417312","ensembl_id":"ENSG00000075426"}}},"hgnc_date_symbol_changed":"1996-10-02"},"entity_type":"gene","entity_name":"FOSL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36197437"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Aplasia cutis-enamel dysplasia syndrome, MIM# 620789"],"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":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC: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":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22581968","31724321"],"evidence":["Expert Review Green","Genomics England PanelApp","Literature"],"phenotypes":["Peroxisome biogenesis disorder 14B, MIM# 614920"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP434G145"],"biotype":"protein_coding","hgnc_id":"HGNC:18654","gene_name":"rotatin","omim_gene":["610436"],"alias_name":null,"gene_symbol":"RTTN","hgnc_symbol":"RTTN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:67671029-67873181","ensembl_id":"ENSG00000176225"}},"GRch38":{"90":{"location":"18:70003031-70205945","ensembl_id":"ENSG00000176225"}}},"hgnc_date_symbol_changed":"2002-07-11"},"entity_type":"gene","entity_name":"RTTN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22939636","26608784","26940245","30121372","29967526","30927481","30121372"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833","Microcephalic primordial dwarfism due to RTTN deficiency MONDO:0018764"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SUR2","CMD1O"],"biotype":"protein_coding","hgnc_id":"HGNC:60","gene_name":"ATP binding cassette subfamily C member 9","omim_gene":["601439"],"alias_name":["sulfonylurea receptor 2"],"gene_symbol":"ABCC9","hgnc_symbol":"ABCC9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:21950335-22094336","ensembl_id":"ENSG00000069431"}},"GRch38":{"90":{"location":"12:21797401-21942529","ensembl_id":"ENSG00000069431"}}},"hgnc_date_symbol_changed":"1999-10-26"},"entity_type":"gene","entity_name":"ABCC9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Hypertrichotic osteochondrodysplasia, MIM# 239850"],"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":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["JM5","WIPI4","NBIA5"],"biotype":"protein_coding","hgnc_id":"HGNC:28912","gene_name":"WD repeat domain 45","omim_gene":["300526"],"alias_name":["neurodegeneration with brain iron accumulation 5"],"gene_symbol":"WDR45","hgnc_symbol":"WDR45","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48929385-48958108","ensembl_id":"ENSG00000196998"}},"GRch38":{"90":{"location":"X:49071470-49101170","ensembl_id":"ENSG00000196998"}}},"hgnc_date_symbol_changed":"2004-09-03"},"entity_type":"gene","entity_name":"WDR45","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["30842224","23176820"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Neurodegeneration with brain iron accumulation 5, MIM# 300894","Rett syndrome","Rett-like phenotypes"],"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":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["H6","NKX5-3"],"biotype":"protein_coding","hgnc_id":"HGNC:5017","gene_name":"H6 family homeobox 1","omim_gene":["142992"],"alias_name":null,"gene_symbol":"HMX1","hgnc_symbol":"HMX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:8847802-8873543","ensembl_id":"ENSG00000215612"}},"GRch38":{"90":{"location":"4:8846076-8871817","ensembl_id":"ENSG00000215612"}}},"hgnc_date_symbol_changed":"1994-12-19"},"entity_type":"gene","entity_name":"HMX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Oculoauricular syndrome, MIM#612109"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ36928","NPHP16"],"biotype":"protein_coding","hgnc_id":"HGNC:26724","gene_name":"ankyrin repeat and sterile alpha motif domain containing 6","omim_gene":["615370"],"alias_name":null,"gene_symbol":"ANKS6","hgnc_symbol":"ANKS6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:101493611-101559247","ensembl_id":"ENSG00000165138"}},"GRch38":{"90":{"location":"9:98731329-98796965","ensembl_id":"ENSG00000165138"}}},"hgnc_date_symbol_changed":"2006-02-17"},"entity_type":"gene","entity_name":"ANKS6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31678577","23793029","31635528","24610927","37525964"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Nephronophthisis 16 MIM#615382"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2873","gene_name":"cytochrome b5 reductase 3","omim_gene":["613213"],"alias_name":["NADH-cytochrome b5 reductase 3"],"gene_symbol":"CYB5R3","hgnc_symbol":"CYB5R3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:43013846-43045574","ensembl_id":"ENSG00000100243"}},"GRch38":{"90":{"location":"22:42617840-42649568","ensembl_id":"ENSG00000100243"}}},"hgnc_date_symbol_changed":"2005-07-13"},"entity_type":"gene","entity_name":"CYB5R3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31898843","38303731"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Methemoglobinaemia, type II (MIM# 250800)"],"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":["DP3","PDGB","PKGB","DPIII"],"biotype":"protein_coding","hgnc_id":"HGNC:6207","gene_name":"junction plakoglobin","omim_gene":["173325"],"alias_name":null,"gene_symbol":"JUP","hgnc_symbol":"JUP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:39775692-39943183","ensembl_id":"ENSG00000173801"}},"GRch38":{"90":{"location":"17:41754604-41786931","ensembl_id":"ENSG00000173801"}}},"hgnc_date_symbol_changed":"1991-03-04"},"entity_type":"gene","entity_name":"JUP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34587761"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Naxos disease MIM#601214"],"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":["bA351K16.3","FLJ20627","RMD1"],"biotype":"protein_coding","hgnc_id":"HGNC:21176","gene_name":"required for meiotic nuclear division 1 homolog","omim_gene":["614917"],"alias_name":null,"gene_symbol":"RMND1","hgnc_symbol":"RMND1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:151725989-151773259","ensembl_id":"ENSG00000155906"}},"GRch38":{"90":{"location":"6:151404763-151452181","ensembl_id":"ENSG00000155906"}}},"hgnc_date_symbol_changed":"2006-11-24"},"entity_type":"gene","entity_name":"RMND1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27412952"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Combined oxidative phosphorylation deficiency 11, MIM#614922"],"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":["BAM22","AP105A"],"biotype":"protein_coding","hgnc_id":"HGNC:554","gene_name":"adaptor related protein complex 1 beta 1 subunit","omim_gene":["600157"],"alias_name":null,"gene_symbol":"AP1B1","hgnc_symbol":"AP1B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:29723669-29819168","ensembl_id":"ENSG00000100280"}},"GRch38":{"90":{"location":"22:29327680-29423179","ensembl_id":"ENSG00000100280"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP1B1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID:31630791, 31630788, 33452671"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Keratitis-ichthyosis-deafness syndrome, autosomal recessive MIM#242150"],"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":["AILIM","CD278"],"biotype":"protein_coding","hgnc_id":"HGNC:5351","gene_name":"inducible T-cell costimulator","omim_gene":["604558"],"alias_name":["activation-inducible lymphocyte immunomediatory molecule"],"gene_symbol":"ICOS","hgnc_symbol":"ICOS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:204801471-204826300","ensembl_id":"ENSG00000163600"}},"GRch38":{"90":{"location":"2:203936748-203961577","ensembl_id":"ENSG00000163600"}}},"hgnc_date_symbol_changed":"2000-02-29"},"entity_type":"gene","entity_name":"ICOS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency, common variable, 1 MIM# 607594"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["NR1I1","PPP1R163"],"biotype":"protein_coding","hgnc_id":"HGNC:12679","gene_name":"vitamin D receptor","omim_gene":["601769"],"alias_name":["protein phosphatase 1, regulatory subunit 163","1,25- dihydroxyvitamin D3 receptor"],"gene_symbol":"VDR","hgnc_symbol":"VDR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:48235320-48336831","ensembl_id":"ENSG00000111424"}},"GRch38":{"90":{"location":"12:47841537-47943048","ensembl_id":"ENSG00000111424"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"VDR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17970811","9005998","2849209"],"evidence":["Expert Review Green","KidGen_CalcPhos v38.1.0","Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Rickets, vitamin D-resistant, type IIA, MIM# 277440"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"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."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["L-JAK","JAKL","LJAK","JAK3_HUMAN","JAK-3"],"biotype":"protein_coding","hgnc_id":"HGNC:6193","gene_name":"Janus kinase 3","omim_gene":["600173"],"alias_name":["tyrosine-protein kinase JAK3","leukocyte Janus kinase"],"gene_symbol":"JAK3","hgnc_symbol":"JAK3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:17935589-17958880","ensembl_id":"ENSG00000105639"}},"GRch38":{"90":{"location":"19:17824780-17848071","ensembl_id":"ENSG00000105639"}}},"hgnc_date_symbol_changed":"1994-12-19"},"entity_type":"gene","entity_name":"JAK3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14615376","11668610","7481767","7481769","9354668","7659163","7481768","30032486","9753072"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Severe combined immunodeficiency, autosomal recessive, T-negative/B-positive type MIM#600802"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["UMPH1","PSN1","PN-I","UMPH","P5'N-1","cN-III","p36","POMP","hUMP1"],"biotype":"protein_coding","hgnc_id":"HGNC:17820","gene_name":"5'-nucleotidase, cytosolic IIIA","omim_gene":["606224"],"alias_name":["lupin"],"gene_symbol":"NT5C3A","hgnc_symbol":"NT5C3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:33053742-33102409","ensembl_id":"ENSG00000122643"}},"GRch38":{"90":{"location":"7:33014114-33062797","ensembl_id":"ENSG00000122643"}}},"hgnc_date_symbol_changed":"2013-03-06"},"entity_type":"gene","entity_name":"NT5C3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11369620"],"evidence":["Expert Review Green","Expert Review Green","NHS GMS","Victorian Clinical Genetics Services"],"phenotypes":["disorder of pyrimidine metabolism","Anemia, hemolytic, due to UMPH1 deficiency MIM#266120"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4294,"hash_id":null,"name":"Nucleotide metabolism disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause inborn errors of purine, pyrimidine, and nucleic acid metabolism.\r\n\r\nIt is a component of the Metabolic Disorders Superpanel.","status":"public","version":"0.8","version_created":"2025-05-08T15:56:43.556103+10:00","relevant_disorders":[],"stats":{"number_of_genes":44,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PIG2","TP53I2"],"biotype":"protein_coding","hgnc_id":"HGNC:4136","gene_name":"guanidinoacetate N-methyltransferase","omim_gene":["601240"],"alias_name":null,"gene_symbol":"GAMT","hgnc_symbol":"GAMT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:1397091-1401569","ensembl_id":"ENSG00000130005"}},"GRch38":{"90":{"location":"19:1397026-1401570","ensembl_id":"ENSG00000130005"}}},"hgnc_date_symbol_changed":"1996-07-19"},"entity_type":"gene","entity_name":"GAMT","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["36856349","28055022","28055022"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Creberal creatine deficiency syndrome 2 (MIM 612736)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4456,"hash_id":null,"name":"Genomic newborn screening: ICoNS","disease_group":"Screening","disease_sub_group":"","description":"UNDER CONSTRUCTION. DO NOT USE.","status":"public","version":"0.35","version_created":"2026-03-13T07:28:16.180055+11:00","relevant_disorders":[],"stats":{"number_of_genes":20,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["XT-I","PXYLT1"],"biotype":"protein_coding","hgnc_id":"HGNC:15516","gene_name":"xylosyltransferase 1","omim_gene":["608124"],"alias_name":["protein xylosyltransferase 1"],"gene_symbol":"XYLT1","hgnc_symbol":"XYLT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:17195626-17564738","ensembl_id":"ENSG00000103489"}},"GRch38":{"90":{"location":"16:17101769-17470881","ensembl_id":"ENSG00000103489"}}},"hgnc_date_symbol_changed":"2001-04-06"},"entity_type":"str","entity_name":"XYLT1_DBQD2_GGC","confidence_level":"3","penetrance":null,"publications":["30554721"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Desbuquois dysplasia 2 MIM#615777"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","repeated_sequence":"GGC","chromosome":"16","grch37_coordinates":[17564765,17564779],"grch38_coordinates":[17470908,17470922],"normal_repeats":20,"pathogenic_repeats":120,"tags":["paediatric-onset"],"panel":{"id":3597,"hash_id":null,"name":"Repeat Disorders","disease_group":"","disease_sub_group":"","description":"This panel contains reported short tandem repeat (STR) expansion disorders. The naming convention of the STRs is based on the name of the condition or fragile site that the expansion is associated with. \r\nThe panel was developed by RMH and WEHI, and is maintained by RMH.\r\n\r\nThis panel is used as a research panel by the Australian Genomics Acute Care study.","status":"public","version":"0.272","version_created":"2026-01-02T15:16:39.779953+11:00","relevant_disorders":[],"stats":{"number_of_genes":0,"number_of_strs":76,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian 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":[]}}]}