{"count":36039,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=96","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=94","results":[{"gene_data":{"alias":["PDIA12"],"biotype":"protein_coding","hgnc_id":"HGNC:30739","gene_name":"thioredoxin related transmembrane protein 2","omim_gene":["616715"],"alias_name":["protein disulfide isomerase family A, member 12"],"gene_symbol":"TMX2","hgnc_symbol":"TMX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:57480072-57508445","ensembl_id":"ENSG00000213593"}},"GRch38":{"90":{"location":"11:57712600-57740973","ensembl_id":"ENSG00000213593"}}},"hgnc_date_symbol_changed":"2009-02-23"},"entity_type":"gene","entity_name":"TMX2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["31735293","31586943"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":15,"hash_id":null,"name":"Lissencephaly and Band Heterotopia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Brain Malformations flagship, and is maintained by VCGS. It is a consensus panel used by RMH.\r\n\r\nIt contains genes associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri, either occurring in isolation or as part of a more complex disorder. The spectrum of lissencephaly ranges from absent (agyria) or decreased (pachygyria) convolutions of the cortex to less severe malformation known as subcortical band heterotopia.\r\n\r\nPlease also consider the Cobblestone Malformations panel and the broader Malformations of cortical development superpanel if features are not entirely typical.","status":"public","version":"1.30","version_created":"2026-01-19T11:50:01.984105+11:00","relevant_disorders":["Lissencephaly HP:0001339;Subcortical band heterotopia HP:0032409"],"stats":{"number_of_genes":46,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":18,"hash_id":null,"name":"Polymicrogyria and Schizencephaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nPlease consider the broader 'Malformations of cortical development' superpanel, particularly in the presence of complex or atypical imaging findings.","status":"public","version":"0.204","version_created":"2025-12-18T09:49:46.643708+11:00","relevant_disorders":["Polymicrogyria","HP:0002126;Schizencephaly","HP:0010636"],"stats":{"number_of_genes":88,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AD-017","FLJ14611"],"biotype":"protein_coding","hgnc_id":"HGNC:24870","gene_name":"glycosyltransferase 8 domain containing 1","omim_gene":null,"alias_name":null,"gene_symbol":"GLT8D1","hgnc_symbol":"GLT8D1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:52728505-52740048","ensembl_id":"ENSG00000016864"}},"GRch38":{"90":{"location":"3:52694488-52706032","ensembl_id":"ENSG00000016864"}}},"hgnc_date_symbol_changed":"2005-01-19"},"entity_type":"gene","entity_name":"GLT8D1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["30811981"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Amyotrophic lateral sclerosis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":[]},{"gene_data":{"alias":["BRAF1"],"biotype":"protein_coding","hgnc_id":"HGNC:1097","gene_name":"B-Raf proto-oncogene, serine/threonine kinase","omim_gene":["164757"],"alias_name":null,"gene_symbol":"BRAF","hgnc_symbol":"BRAF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:140419127-140624564","ensembl_id":"ENSG00000157764"}},"GRch38":{"90":{"location":"7:140719327-140924764","ensembl_id":"ENSG00000157764"}}},"hgnc_date_symbol_changed":"1991-07-16"},"entity_type":"gene","entity_name":"BRAF","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":51,"hash_id":null,"name":"Autism","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.248","version_created":"2026-03-19T12:51:18.584438+11:00","relevant_disorders":["Autism","HP:0000717"],"stats":{"number_of_genes":157,"number_of_strs":0,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0458","ARP","ARG","DNB1"],"biotype":"protein_coding","hgnc_id":"HGNC:9965","gene_name":"arginine-glutamic acid dipeptide repeats","omim_gene":["605226"],"alias_name":null,"gene_symbol":"RERE","hgnc_symbol":"RERE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:8412457-8877702","ensembl_id":"ENSG00000142599"}},"GRch38":{"90":{"location":"1:8352397-8817643","ensembl_id":"ENSG00000142599"}}},"hgnc_date_symbol_changed":"2000-05-19"},"entity_type":"gene","entity_name":"RERE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27087320","23451234","30896913","30061196"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":55,"hash_id":null,"name":"Blepharophimosis","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with syndromic and non-syndromic blepharophimosis.","status":"public","version":"1.3","version_created":"2025-04-27T09:04:52.368864+10:00","relevant_disorders":["Blepharophimosis","HP:0000581"],"stats":{"number_of_genes":23,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ODA-8S","DKFZp566F123","DPZF"],"biotype":"protein_coding","hgnc_id":"HGNC:13503","gene_name":"zinc finger and BTB domain containing 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ganglia. They typically present with movement disorders and psychiatric or behavioural problems. This panel also contains other multi-system conditions where brain calcification can occur as part of the phenotype.\r\n\r\nThis panel was developed and is maintained by VCGS.\r\n\r\nThe panel has been compared against the Genomics England PanelApp Intracerebral Calcifications panel V1.27 with all discrepancies resolved and reciprocal feedback provided to Genomics England.\r\n\r\nUpdated December 2025 following literature review.","status":"public","version":"2.6","version_created":"2026-01-08T18:01:53.861975+11:00","relevant_disorders":["Cerebral calcification","HP:0002514"],"stats":{"number_of_genes":96,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kv4.3","KSHIVB"],"biotype":"protein_coding","hgnc_id":"HGNC:6239","gene_name":"potassium voltage-gated channel subfamily D member 3","omim_gene":["605411"],"alias_name":null,"gene_symbol":"KCND3","hgnc_symbol":"KCND3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:112313284-112531777","ensembl_id":"ENSG00000171385"}},"GRch38":{"90":{"location":"1:111770662-111989155","ensembl_id":"ENSG00000171385"}}},"hgnc_date_symbol_changed":"1992-10-05"},"entity_type":"gene","entity_name":"KCND3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29959160"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Brugada syndrome"],"mode_of_inheritance":"Unknown","tags":["disputed"],"panel":{"id":60,"hash_id":null,"name":"Brugada syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.46","version_created":"2026-02-06T09:29:49.325637+11:00","relevant_disorders":[],"stats":{"number_of_genes":23,"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":["MASS","OCTD","SGS"],"biotype":"protein_coding","hgnc_id":"HGNC:3603","gene_name":"fibrillin 1","omim_gene":["134797"],"alias_name":["Marfan syndrome","asprosin"],"gene_symbol":"FBN1","hgnc_symbol":"FBN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:48700503-48938046","ensembl_id":"ENSG00000166147"}},"GRch38":{"90":{"location":"15:48408306-48645849","ensembl_id":"ENSG00000166147"}}},"hgnc_date_symbol_changed":"1987-09-11"},"entity_type":"gene","entity_name":"FBN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Marfan syndrome, MIM#\t154700","Weill-Marchesani syndrome 2, dominant, MIM#\t608328"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["OPN1","ARHGAP41"],"biotype":"protein_coding","hgnc_id":"HGNC:8148","gene_name":"oligophrenin 1","omim_gene":["300127"],"alias_name":null,"gene_symbol":"OPHN1","hgnc_symbol":"OPHN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:67262186-67653755","ensembl_id":"ENSG00000079482"}},"GRch38":{"90":{"location":"X:68042344-68433913","ensembl_id":"ENSG00000079482"}}},"hgnc_date_symbol_changed":"1998-05-12"},"entity_type":"gene","entity_name":"OPHN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20528889","9582072","12807966","16221952"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM# 300486"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["KIAA0243","LAM","hamartin"],"biotype":"protein_coding","hgnc_id":"HGNC:12362","gene_name":"TSC complex subunit 1","omim_gene":["605284"],"alias_name":["hamartin"],"gene_symbol":"TSC1","hgnc_symbol":"TSC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:135766735-135820020","ensembl_id":"ENSG00000165699"}},"GRch38":{"90":{"location":"9:132891348-132944633","ensembl_id":"ENSG00000165699"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"TSC1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["29706646","34788679","25817843"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Tuberous sclerosis-1 MIM#191100"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HCAP","BAM","SMC3L1","bamacan"],"biotype":"protein_coding","hgnc_id":"HGNC:2468","gene_name":"structural maintenance of chromosomes 3","omim_gene":["606062"],"alias_name":["bamacan proteoglycan"],"gene_symbol":"SMC3","hgnc_symbol":"SMC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:112327449-112364394","ensembl_id":"ENSG00000108055"}},"GRch38":{"90":{"location":"10:110567691-110604636","ensembl_id":"ENSG00000108055"}}},"hgnc_date_symbol_changed":"2006-07-06"},"entity_type":"gene","entity_name":"SMC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cornelia de Lange syndrome 3, MIM# 610759"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT 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Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ30899","dJ310J6.1","FLJ34235","bA57L9.1","BROMI"],"biotype":"protein_coding","hgnc_id":"HGNC:21485","gene_name":"TBC1 domain family member 32","omim_gene":["615867"],"alias_name":["broad-minded homolog"],"gene_symbol":"TBC1D32","hgnc_symbol":"TBC1D32","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:121400640-121655891","ensembl_id":"ENSG00000146350"}},"GRch38":{"90":{"location":"6:121079494-121334745","ensembl_id":"ENSG00000146350"}}},"hgnc_date_symbol_changed":"2013-07-10"},"entity_type":"gene","entity_name":"TBC1D32","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24285566","32573025","32060556","31130284","36826837","40319332","31130284","36826837","37768732","39930170"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Orofaciodigital syndrome type IX, MIM#258865","Alsahan-Harris syndrome, MIM#621307","Retinitis pigmentosa 100, MIM# 621280"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":84,"hash_id":null,"name":"Ciliopathies","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"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":null},{"gene_data":{"alias":["GSD1a"],"biotype":"protein_coding","hgnc_id":"HGNC:4056","gene_name":"glucose-6-phosphatase catalytic subunit","omim_gene":["613742"],"alias_name":["glycogen storage disease type I, von Gierke 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production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).","status":"public","version":"1.4","version_created":"2025-11-21T17:00:56.134684+11:00","relevant_disorders":["Abnormal hepatic glycogen storage","HP:0500030; Abnormal muscle glycogen content","HP:0012269; Visceromegaly","HP:0003271;Hypoglycemia","HP:0001943"],"stats":{"number_of_genes":29,"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":["FLJ38464","FLJ16786"],"biotype":"protein_coding","hgnc_id":"HGNC:18688","gene_name":"crumbs 2, cell polarity complex component","omim_gene":["609720"],"alias_name":null,"gene_symbol":"CRB2","hgnc_symbol":"CRB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:126118449-126142603","ensembl_id":"ENSG00000148204"}},"GRch38":{"90":{"location":"9:123356170-123380324","ensembl_id":"ENSG00000148204"}}},"hgnc_date_symbol_changed":"2004-03-19"},"entity_type":"gene","entity_name":"CRB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25557780","33687977","32051522","30212996","33575434","31438467","30593785","27004616"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ventriculomegaly with cystic kidney disease, MIM# 219730"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":115,"hash_id":null,"name":"Hydrocephalus_Ventriculomegaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.","status":"public","version":"0.134","version_created":"2026-01-28T12:49:29.963583+11:00","relevant_disorders":["Hydrocephalus","HP:0000238; Ventriculomegaly","HP:0002119"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PTS1R"],"biotype":"protein_coding","hgnc_id":"HGNC:9719","gene_name":"peroxisomal biogenesis factor 5","omim_gene":["600414"],"alias_name":["peroxisomal targeting signal 1 receptor","peroxisomal import receptor 5"],"gene_symbol":"PEX5","hgnc_symbol":"PEX5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:7341281-7371170","ensembl_id":"ENSG00000139197"}},"GRch38":{"90":{"location":"12:7188685-7218574","ensembl_id":"ENSG00000139197"}}},"hgnc_date_symbol_changed":"2004-03-19"},"entity_type":"gene","entity_name":"PEX5","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":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":null},{"gene_data":{"alias":["MPS1"],"biotype":"protein_coding","hgnc_id":"HGNC:5391","gene_name":"iduronidase, alpha-L-","omim_gene":["252800"],"alias_name":null,"gene_symbol":"IDUA","hgnc_symbol":"IDUA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:980785-998316","ensembl_id":"ENSG00000127415"}},"GRch38":{"90":{"location":"4:986997-1004506","ensembl_id":"ENSG00000127415"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"IDUA","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["27928775"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Hurler syndrome, MPS 1"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["nM15"],"biotype":"protein_coding","hgnc_id":"HGNC:6814","gene_name":"MAGE family member L2","omim_gene":["605283"],"alias_name":null,"gene_symbol":"MAGEL2","hgnc_symbol":"MAGEL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:23888691-23891175","ensembl_id":"ENSG00000254585"}},"GRch38":{"90":{"location":"15:23643544-23647841","ensembl_id":"ENSG00000254585"}}},"hgnc_date_symbol_changed":"1999-10-29"},"entity_type":"gene","entity_name":"MAGEL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25473036","29599419","31397880"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Schaaf-Yang syndrome, MIM#\t615547"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","tags":[],"panel":{"id":118,"hash_id":null,"name":"Hyperinsulinism","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS and RMH.\r\n\r\nThis panel contains genes associated with hyperinsulinism (non-syndromic and syndromic). \r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital hyperinsulinism' panel V3.5, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nFor severe, persistent hypoglycaemia, consider also applying the Metabolic Disorders Superpanel, or more specifically, the Glycogen Storage Diseases and Fatty Acid Oxidation Defects panels.\r\n\r\nIf features of the following diagnoses, request alternate genetic test listed:\r\na) Beckwith-Wiedeman syndrome - request BWS methylation studies\r\nb) Congenital central hypoventilation syndrome - request PHOX2B poly-A expansion repeat testing","status":"public","version":"1.51","version_created":"2026-03-09T16:58:00.909830+11:00","relevant_disorders":["Hyperinsulinaemia","HP:0000842;Hypoglycemia","HP:0001943"],"stats":{"number_of_genes":35,"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"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:620","gene_name":"amyloid beta precursor protein","omim_gene":["104760"],"alias_name":["peptidase nexin-II"],"gene_symbol":"APP","hgnc_symbol":"APP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:27252861-27543446","ensembl_id":"ENSG00000142192"}},"GRch38":{"90":{"location":"21:25880550-26171128","ensembl_id":"ENSG00000142192"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"APP","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":["17121991","1520398","15365148","15668448","1671712","1678058"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Alzheimer's Disease (MIM#104300)"],"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":["K-REV","RAL1B","DKFZp586H0723"],"biotype":"protein_coding","hgnc_id":"HGNC:9857","gene_name":"RAP1B, member of RAS oncogene family","omim_gene":["179530"],"alias_name":null,"gene_symbol":"RAP1B","hgnc_symbol":"RAP1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:69004619-69054372","ensembl_id":"ENSG00000127314"}},"GRch38":{"90":{"location":"12:68610839-68671901","ensembl_id":"ENSG00000127314"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"RAP1B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["26280580"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654","Kabuki-like syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":134,"hash_id":null,"name":"Kabuki syndrome","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.17","version_created":"2025-11-13T11:58:53.337652+11:00","relevant_disorders":["Kabuki syndrome","MONDO:0016512"],"stats":{"number_of_genes":8,"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":["RALDH2"],"biotype":"protein_coding","hgnc_id":"HGNC:15472","gene_name":"aldehyde dehydrogenase 1 family member A2","omim_gene":["603687"],"alias_name":["retinaldehyde dehydrogenase 2"],"gene_symbol":"ALDH1A2","hgnc_symbol":"ALDH1A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:58245622-58790065","ensembl_id":"ENSG00000128918"}},"GRch38":{"90":{"location":"15:57953424-58497866","ensembl_id":"ENSG00000128918"}}},"hgnc_date_symbol_changed":"2001-03-30"},"entity_type":"gene","entity_name":"ALDH1A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33565183","10192400"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["DBP2","Prp2","PRPF2"],"biotype":"protein_coding","hgnc_id":"HGNC:2739","gene_name":"DEAH-box helicase 16","omim_gene":["603405"],"alias_name":null,"gene_symbol":"DHX16","hgnc_symbol":"DHX16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:30620896-30640814","ensembl_id":"ENSG00000204560"}},"GRch38":{"90":{"location":"6:30653119-30673037","ensembl_id":"ENSG00000204560"}}},"hgnc_date_symbol_changed":"2003-06-20"},"entity_type":"gene","entity_name":"DHX16","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31256877"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neuromuscular disease and ocular or auditory anomalies with or without seizures, MIM#\t618733"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["FAA","FA-H","FAH"],"biotype":"protein_coding","hgnc_id":"HGNC:3582","gene_name":"Fanconi anemia complementation group A","omim_gene":["607139"],"alias_name":null,"gene_symbol":"FANCA","hgnc_symbol":"FANCA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:89803957-89883065","ensembl_id":"ENSG00000187741"}},"GRch38":{"90":{"location":"16:89737549-89816657","ensembl_id":"ENSG00000187741"}}},"hgnc_date_symbol_changed":"1995-12-22"},"entity_type":"gene","entity_name":"FANCA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10094191"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anaemia, complementation group A, MIM# 227650","MONDO:0009215"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["fumarase"],"biotype":"protein_coding","hgnc_id":"HGNC:3700","gene_name":"fumarate hydratase","omim_gene":["136850"],"alias_name":null,"gene_symbol":"FH","hgnc_symbol":"FH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:241660903-241683061","ensembl_id":"ENSG00000091483"}},"GRch38":{"90":{"location":"1:241497603-241519761","ensembl_id":"ENSG00000091483"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"FH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11865300","28300276","20301430","8200987","20549362","31746132","20301679"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["hereditary leiomyomatosis and renal cell cancer MONDO:0007888","fumaric aciduria MONDO:0011730"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["p532","p619"],"biotype":"protein_coding","hgnc_id":"HGNC:4867","gene_name":"HECT and RLD domain containing E3 ubiquitin protein ligase family member 1","omim_gene":["605109"],"alias_name":null,"gene_symbol":"HERC1","hgnc_symbol":"HERC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:63900817-64126141","ensembl_id":"ENSG00000103657"}},"GRch38":{"90":{"location":"15:63608618-63833942","ensembl_id":"ENSG00000103657"}}},"hgnc_date_symbol_changed":"1999-01-07"},"entity_type":"gene","entity_name":"HERC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28323226","27108999","26153217","26138117","20041218"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Macrocephaly, dysmorphic facies, and psychomotor retardation, MIM# 617011"],"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. 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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":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":[],"biotype":"protein_coding","hgnc_id":"HGNC:12843","gene_name":"YME1 like 1 ATPase","omim_gene":["607472"],"alias_name":null,"gene_symbol":"YME1L1","hgnc_symbol":"YME1L1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:27399383-27444195","ensembl_id":"ENSG00000136758"}},"GRch38":{"90":{"location":"10:27110112-27155266","ensembl_id":"ENSG00000136758"}}},"hgnc_date_symbol_changed":"1999-04-15"},"entity_type":"gene","entity_name":"YME1L1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["30544562","27495975","40255048"],"evidence":["Expert Review Amber","NHS GMS"],"phenotypes":["Optic atrophy 11, MIM#617302","Mitochondrial disease, MONDO:0044970, YME1L1-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["K-FGF","HBGF-4","HST","HST-1","KFGF"],"biotype":"protein_coding","hgnc_id":"HGNC:3682","gene_name":"fibroblast growth factor 4","omim_gene":["164980"],"alias_name":["human stomach cancer, transforming factor from FGF-related oncogene","kaposi sarcoma oncogene","transforming protein KS3"],"gene_symbol":"FGF4","hgnc_symbol":"FGF4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:69587797-69590171","ensembl_id":"ENSG00000075388"}},"GRch38":{"90":{"location":"11:69771016-69775403","ensembl_id":"ENSG00000075388"}}},"hgnc_date_symbol_changed":"1988-04-20"},"entity_type":"gene","entity_name":"FGF4","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["40259859"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Short-rib thoracic dysplasia 22 without polydactyly, MIM# 621260"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["KIAA1517","MGC4322","MGC2695","Dhr1"],"biotype":"protein_coding","hgnc_id":"HGNC:17210","gene_name":"DEAH-box helicase 37","omim_gene":["617362"],"alias_name":null,"gene_symbol":"DHX37","hgnc_symbol":"DHX37","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:125431371-125473668","ensembl_id":"ENSG00000150990"}},"GRch38":{"90":{"location":"12:124946825-124989122","ensembl_id":"ENSG00000150990"}}},"hgnc_date_symbol_changed":"2003-06-20"},"entity_type":"gene","entity_name":"DHX37","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31337883","31745530","31287541","26539891","31256877"],"evidence":["Expert Review Green","Literature"],"phenotypes":["46,XY sex reversal 11, MONDO:8000015","Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["DDX2B","EIF4A","BM-010"],"biotype":"protein_coding","hgnc_id":"HGNC:3284","gene_name":"eukaryotic translation initiation factor 4A2","omim_gene":["601102"],"alias_name":null,"gene_symbol":"EIF4A2","hgnc_symbol":"EIF4A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:186500994-186507689","ensembl_id":"ENSG00000156976"}},"GRch38":{"90":{"location":"3:186783205-186789900","ensembl_id":"ENSG00000156976"}}},"hgnc_date_symbol_changed":"1995-05-10"},"entity_type":"gene","entity_name":"EIF4A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["PMID: 36528028"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MIM# \t620455"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["FLJ25955","ODA16"],"biotype":"protein_coding","hgnc_id":"HGNC:26383","gene_name":"dynein assembly factor with WD repeats 1","omim_gene":null,"alias_name":["outer row dynein assembly 16 homolog (Chlamydomonas)"],"gene_symbol":"DAW1","hgnc_symbol":"DAW1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:228735770-228789060","ensembl_id":"ENSG00000123977"}},"GRch38":{"90":{"location":"2:227871054-227924344","ensembl_id":"ENSG00000123977"}}},"hgnc_date_symbol_changed":"2013-02-19"},"entity_type":"gene","entity_name":"DAW1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36074124"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Primary ciliary dyskinesia, with or without heterotaxy, MIM#620570"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["MGC16925","DKFZp434D229"],"biotype":"protein_coding","hgnc_id":"HGNC:16491","gene_name":"p53-induced death domain protein 1","omim_gene":["605247"],"alias_name":null,"gene_symbol":"PIDD1","hgnc_symbol":"PIDD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:799179-809753","ensembl_id":"ENSG00000177595"}},"GRch38":{"90":{"location":"11:799179-809753","ensembl_id":"ENSG00000177595"}}},"hgnc_date_symbol_changed":"2014-05-01"},"entity_type":"gene","entity_name":"PIDD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28397838","29302074","33414379","34163010"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["KIAA0248","ARF1GEF"],"biotype":"protein_coding","hgnc_id":"HGNC:4181","gene_name":"golgi brefeldin A resistant guanine nucleotide exchange factor 1","omim_gene":["603698"],"alias_name":null,"gene_symbol":"GBF1","hgnc_symbol":"GBF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:104005289-104142656","ensembl_id":"ENSG00000107862"}},"GRch38":{"90":{"location":"10:102245532-102382899","ensembl_id":"ENSG00000107862"}}},"hgnc_date_symbol_changed":"1999-01-14"},"entity_type":"gene","entity_name":"GBF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32937143"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483","Axonal Neuropathy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["NHE6","KIAA0267"],"biotype":"protein_coding","hgnc_id":"HGNC:11079","gene_name":"solute carrier family 9 member 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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":["ATLD"],"biotype":"protein_coding","hgnc_id":"HGNC:7230","gene_name":"MRE11 homolog, double strand break repair nuclease","omim_gene":["600814"],"alias_name":["AT-like disease"],"gene_symbol":"MRE11","hgnc_symbol":"MRE11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:94152895-94227074","ensembl_id":"ENSG00000020922"}},"GRch38":{"90":{"location":"11:94415578-94493908","ensembl_id":"ENSG00000020922"}}},"hgnc_date_symbol_changed":"2016-09-30"},"entity_type":"gene","entity_name":"MRE11","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["21227757"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Nijmegen breakage syndrome-like severe microcephaly"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and 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Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PheHB","FRSB"],"biotype":"protein_coding","hgnc_id":"HGNC:17800","gene_name":"phenylalanyl-tRNA synthetase beta subunit","omim_gene":["609690"],"alias_name":["phenylalanine tRNA ligase 1, beta, cytoplasmic"],"gene_symbol":"FARSB","hgnc_symbol":"FARSB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:223435255-223521056","ensembl_id":"ENSG00000116120"}},"GRch38":{"90":{"location":"2:222570536-222656337","ensembl_id":"ENSG00000116120"}}},"hgnc_date_symbol_changed":"2007-02-23"},"entity_type":"gene","entity_name":"FARSB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29573043","19161147","29979980","30014610"],"evidence":["Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Rajab syndrome, MIM#613658","interstitial lung disease","brain calcifications","microcephaly","intellectual disability"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":162,"hash_id":null,"name":"Pulmonary Fibrosis_Interstitial Lung Disease","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.","status":"public","version":"1.10","version_created":"2026-03-17T11:39:32.713501+11:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":97,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ND2","NAD2"],"biotype":"protein_coding","hgnc_id":"HGNC:7456","gene_name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2","omim_gene":["516001"],"alias_name":["complex I ND2 subunit","NADH-ubiquinone oxidoreductase chain 2"],"gene_symbol":"MT-ND2","hgnc_symbol":"MT-ND2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:4470-5511","ensembl_id":"ENSG00000198763"}},"GRch38":{"90":{"location":"MT:4470-5511","ensembl_id":"ENSG00000198763"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-ND2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26258512","16738010","15781840","12192017"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-ND2-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0760","OAZ","Roaz","Ebfaz","Zfp104","NPHP14","JBTS19"],"biotype":"protein_coding","hgnc_id":"HGNC:16762","gene_name":"zinc finger protein 423","omim_gene":["604557"],"alias_name":["OLF-1/EBF associated zinc finger gene"," Smad- and Olf-interacting zinc finger protein","early B-cell factor associated zinc finger protein"],"gene_symbol":"ZNF423","hgnc_symbol":"ZNF423","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:49521435-49891830","ensembl_id":"ENSG00000102935"}},"GRch38":{"90":{"location":"16:49487524-49857919","ensembl_id":"ENSG00000102935"}}},"hgnc_date_symbol_changed":"2004-04-06"},"entity_type":"gene","entity_name":"ZNF423","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22863007"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 19, OMIM# 614844"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["C-FMS","CSFR","CD115"],"biotype":"protein_coding","hgnc_id":"HGNC:2433","gene_name":"colony stimulating factor 1 receptor","omim_gene":["164770"],"alias_name":null,"gene_symbol":"CSF1R","hgnc_symbol":"CSF1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:149432854-149492935","ensembl_id":"ENSG00000182578"}},"GRch38":{"90":{"location":"5:150053291-150113372","ensembl_id":"ENSG00000182578"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CSF1R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30982609","33749994","34135456"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476","BANDDOS"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HRIHFB2122","KIAA1662","Tara","TAP68"],"biotype":"protein_coding","hgnc_id":"HGNC:17009","gene_name":"TRIO and F-actin binding protein","omim_gene":["609761"],"alias_name":null,"gene_symbol":"TRIOBP","hgnc_symbol":"TRIOBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:38093011-38172563","ensembl_id":"ENSG00000100106"}},"GRch38":{"90":{"location":"22:37697004-37776556","ensembl_id":"ENSG00000100106"}}},"hgnc_date_symbol_changed":"2005-10-04"},"entity_type":"gene","entity_name":"TRIOBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16385458","16385457","23226338","27014650","24853665","27344577","20510926"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal recessive 28, MIM# 609823"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ATPIH","ATPIS","KIAA1021"],"biotype":"protein_coding","hgnc_id":"HGNC:13552","gene_name":"ATPase phospholipid transporting 11A","omim_gene":["605868"],"alias_name":["potential phospholipid-transporting ATPase IH","phospholipid-translocating ATPase"],"gene_symbol":"ATP11A","hgnc_symbol":"ATP11A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:113344643-113541482","ensembl_id":"ENSG00000068650"}},"GRch38":{"90":{"location":"13:112690329-112887168","ensembl_id":"ENSG00000068650"}}},"hgnc_date_symbol_changed":"2000-09-25"},"entity_type":"gene","entity_name":"ATP11A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35278131","36300302"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Deafness, autosomal dominant 84, MIM# 619810","Auditory neuropathy, autosomal dominant 2, MIM# 620384"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SHOT","OG12X","OG12"],"biotype":"protein_coding","hgnc_id":"HGNC:10854","gene_name":"short stature homeobox 2","omim_gene":["602504"],"alias_name":null,"gene_symbol":"SHOX2","hgnc_symbol":"SHOX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:157814948-157824292","ensembl_id":"ENSG00000168779"}},"GRch38":{"90":{"location":"3:158095954-158106503","ensembl_id":"ENSG00000168779"}}},"hgnc_date_symbol_changed":"1998-06-05"},"entity_type":"gene","entity_name":"SHOX2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["30443179"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["Sinus Node Dysfunction","Atrial Fibrillation"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":210,"hash_id":null,"name":"Atrial Fibrillation","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"1.8","version_created":"2026-04-08T12:33:56.834813+10:00","relevant_disorders":["Atrial fibrillation","HP:0005110"],"stats":{"number_of_genes":8,"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":["KIAA0653","GL50","B7-H2","B7RP-1","B7H2","B7RP1","ICOS-L","CD275"],"biotype":"protein_coding","hgnc_id":"HGNC:17087","gene_name":"inducible T-cell costimulator ligand","omim_gene":["605717"],"alias_name":["B7-related protein 1","B7 homologue 2","B7 homolog 2"],"gene_symbol":"ICOSLG","hgnc_symbol":"ICOSLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:45642874-45660849","ensembl_id":"ENSG00000160223"}},"GRch38":{"90":{"location":"21:44222991-44240966","ensembl_id":"ENSG00000160223"}}},"hgnc_date_symbol_changed":"2005-01-12"},"entity_type":"gene","entity_name":"ICOSLG","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["31532372","30498080"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Immunodeficiency 119, MIM# 620825","Combined immunodeficiency","recurrent bacterial and viral infections","neutropaenia"],"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":[]},{"gene_data":{"alias":["MST1","KRS2","YSK3"],"biotype":"protein_coding","hgnc_id":"HGNC:11408","gene_name":"serine/threonine kinase 4","omim_gene":["604965"],"alias_name":["mammalian sterile 20-like 1","yeast Ste20-like","kinase responsive to stress 2"],"gene_symbol":"STK4","hgnc_symbol":"STK4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:43595115-43708600","ensembl_id":"ENSG00000101109"}},"GRch38":{"90":{"location":"20:44966474-45079959","ensembl_id":"ENSG00000101109"}}},"hgnc_date_symbol_changed":"1997-10-09"},"entity_type":"gene","entity_name":"STK4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22294732","26117625","22174160","22952854"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM# 614868","CD4/CD8 lymphopaenia","cardiac malformations","reduced naïve T cells","increased TEM and TEMRA cells","poor T cell Proliferation","Reduced memory B cells","Reduced IgM, increased IgG, IgA, IgE","impaired antibody responses","intermittent neutropaenia","bacterial/ viral/ fungal infections","autoimmune cytopaenias","mucocutaneous candidiasis","cutaneous warts"],"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":["RZRG","RORG","NR1F3","TOR"],"biotype":"protein_coding","hgnc_id":"HGNC:10260","gene_name":"RAR related orphan receptor C","omim_gene":["602943"],"alias_name":null,"gene_symbol":"RORC","hgnc_symbol":"RORC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:151778547-151804348","ensembl_id":"ENSG00000143365"}},"GRch38":{"90":{"location":"1:151806071-151831872","ensembl_id":"ENSG00000143365"}}},"hgnc_date_symbol_changed":"1995-04-13"},"entity_type":"gene","entity_name":"RORC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26160376"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency 42, MIM# 616622"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":231,"hash_id":null,"name":"Defects of intrinsic and innate immunity","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause defects in intrinsic and innate immunity, including the following:\r\n- Mendelian susceptibility to mycobacterial disease (MSMD)\r\n- Epidermodysplasia verruciformis (HPV)\r\n- Predisposition to severe viral infection\r\n- Herpes simplex encephalitis (HSE)\r\n- Predisposition to mucocutaneous candidiasis\r\n- Other inborn errors of immunity related to non-haematopoietic tissues\r\n- Other inborn errors of immunity related to leukocytes\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":"1.36","version_created":"2026-04-08T12:35:08.612526+10:00","relevant_disorders":["Unusual infections","HP:0032101"],"stats":{"number_of_genes":86,"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":["LARP","KIAA0731","MGC19556"],"biotype":"protein_coding","hgnc_id":"HGNC:29531","gene_name":"La ribonucleoprotein domain family member 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It is part of the Metabolic Disorders Superpanel.","status":"public","version":"0.54","version_created":"2026-02-17T14:35:14.331246+11:00","relevant_disorders":["Abnormality of iron homeostasis","HP:0011031;Abnormal blood transition element cation concentration","HP:0011030"],"stats":{"number_of_genes":51,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ11457","JBTS11","NPHP12","IFT139B","THM1"],"biotype":"protein_coding","hgnc_id":"HGNC:25660","gene_name":"tetratricopeptide repeat domain 21B","omim_gene":["612014"],"alias_name":null,"gene_symbol":"TTC21B","hgnc_symbol":"TTC21B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:166713985-166810353","ensembl_id":"ENSG00000123607"}},"GRch38":{"90":{"location":"2:165857475-165953843","ensembl_id":"ENSG00000123607"}}},"hgnc_date_symbol_changed":"2005-01-26"},"entity_type":"gene","entity_name":"TTC21B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29068549","25492405","21258341"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list","KidGen_CilioNephronop v38.1.0"],"phenotypes":["Nephronophthisis 12, MIM# 613820","Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819"],"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. 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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":["hCaf1z"],"biotype":"protein_coding","hgnc_id":"HGNC:15954","gene_name":"target of EGR1, exonuclease","omim_gene":["613931"],"alias_name":null,"gene_symbol":"TOE1","hgnc_symbol":"TOE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45805342-45809647","ensembl_id":"ENSG00000132773"}},"GRch38":{"90":{"location":"1:45339670-45343975","ensembl_id":"ENSG00000132773"}}},"hgnc_date_symbol_changed":"2001-08-24"},"entity_type":"gene","entity_name":"TOE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28092684"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Pontocerebellar hypoplasia, type 7, OMIM:614969","Pontocerebellar hypoplasia type 7, MONDO:0013993"],"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. 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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":["hdhc9"],"biotype":"protein_coding","hgnc_id":"HGNC:2952","gene_name":"dynein axonemal heavy chain 8","omim_gene":["603337"],"alias_name":null,"gene_symbol":"DNAH8","hgnc_symbol":"DNAH8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:38683117-38998301","ensembl_id":"ENSG00000124721"}},"GRch38":{"90":{"location":"6:38715341-39030529","ensembl_id":"ENSG00000124721"}}},"hgnc_date_symbol_changed":"1995-11-15"},"entity_type":"gene","entity_name":"DNAH8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["24307375"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Primary ciliary dyskinesia, MONDO:0016575, DNAH8-related"],"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":["FLJ10520","RNF201","FANCW"],"biotype":"protein_coding","hgnc_id":"HGNC:25539","gene_name":"ring finger and WD repeat domain 3","omim_gene":["614151"],"alias_name":null,"gene_symbol":"RFWD3","hgnc_symbol":"RFWD3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:74655292-74700779","ensembl_id":"ENSG00000168411"}},"GRch38":{"90":{"location":"16:74621394-74666881","ensembl_id":"ENSG00000168411"}}},"hgnc_date_symbol_changed":"2005-01-13"},"entity_type":"gene","entity_name":"RFWD3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["28691929"],"evidence":["Expert Review Amber","Genomics England PanelApp"],"phenotypes":["Fanconi anaemia, complementation group W, OMIM:617784"],"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. 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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":["NHE6","KIAA0267"],"biotype":"protein_coding","hgnc_id":"HGNC:11079","gene_name":"solute carrier family 9 member A6","omim_gene":["300231"],"alias_name":null,"gene_symbol":"SLC9A6","hgnc_symbol":"SLC9A6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:135067598-135129423","ensembl_id":"ENSG00000198689"}},"GRch38":{"90":{"location":"X:135973841-136047269","ensembl_id":"ENSG00000198689"}}},"hgnc_date_symbol_changed":"1999-07-30"},"entity_type":"gene","entity_name":"SLC9A6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["18342287","19377476","25044251","33278113","32569089","31879735"],"evidence":["Expert Review Red","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Mental retardation, X-linked syndromic, Christianson type, MIM# 300243","MONDO:0010278"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","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":["MEGF2","HFMI1","FMI1","CDHF11","ADGRC3"],"biotype":"protein_coding","hgnc_id":"HGNC:3230","gene_name":"cadherin EGF LAG seven-pass G-type receptor 3","omim_gene":["604264"],"alias_name":["flamingo homolog 1 (Drosophila)","adhesion G protein-coupled receptor C3"],"gene_symbol":"CELSR3","hgnc_symbol":"CELSR3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:48673902-48700348","ensembl_id":"ENSG00000008300"}},"GRch38":{"90":{"location":"3:48636469-48662915","ensembl_id":"ENSG00000008300"}}},"hgnc_date_symbol_changed":"1998-03-25"},"entity_type":"gene","entity_name":"CELSR3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["38429302"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO#0700092), CELSR3-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. 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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":["KALIG-1","WFDC19"],"biotype":"protein_coding","hgnc_id":"HGNC:6211","gene_name":"anosmin 1","omim_gene":["300836"],"alias_name":["anosmin-1","WAP four-disulfide core domain 19","Adhesion molecule-like, X-linked","Kallmann syndrome interval gene 1"],"gene_symbol":"ANOS1","hgnc_symbol":"ANOS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:8496915-8700227","ensembl_id":"ENSG00000011201"}},"GRch38":{"90":{"location":"X:8528874-8732186","ensembl_id":"ENSG00000011201"}}},"hgnc_date_symbol_changed":"2015-04-10"},"entity_type":"gene","entity_name":"ANOS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["1594017","8504298","8989261"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","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":["HT019","P105","GKLP","NKTL","TAPK","TRAP","TEIF","MGC78454"],"biotype":"protein_coding","hgnc_id":"HGNC:14372","gene_name":"SCY1 like pseudokinase 1","omim_gene":["607982"],"alias_name":["teratoma-associated tyrosine kinase","telomerase transcriptional elements-interacting factor","telomerase regulation-associated protein"],"gene_symbol":"SCYL1","hgnc_symbol":"SCYL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65292548-65306175","ensembl_id":"ENSG00000142186"}},"GRch38":{"90":{"location":"11:65525077-65538704","ensembl_id":"ENSG00000142186"}}},"hgnc_date_symbol_changed":"2002-11-29"},"entity_type":"gene","entity_name":"SCYL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 21, MIM#616719"],"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":["KIAA1171","TLDC6","DFNA65"],"biotype":"protein_coding","hgnc_id":"HGNC:29203","gene_name":"TBC1 domain family member 24","omim_gene":["613577"],"alias_name":["TBC/LysM-associated domain containing 6","skywalker homolog (Drosophila)"],"gene_symbol":"TBC1D24","hgnc_symbol":"TBC1D24","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:2525147-2555735","ensembl_id":"ENSG00000162065"}},"GRch38":{"90":{"location":"16:2475051-2509560","ensembl_id":"ENSG00000162065"}}},"hgnc_date_symbol_changed":"2006-04-07"},"entity_type":"gene","entity_name":"TBC1D24","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27281533","25719194"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Deafness, autosomal recessive 86 MIM#614617","Developmental and epileptic encephalopathy 16 MIM#615338","DOORS syndrome MIM#220500","Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105","Myoclonic epilepsy, infantile, familial MIM#605021"],"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":["PDZ73","harmonin","NY-CO-37","NY-CO-38","PDZ-73","AIE-75","PDZD7C"],"biotype":"protein_coding","hgnc_id":"HGNC:12597","gene_name":"USH1 protein network component harmonin","omim_gene":["605242"],"alias_name":["harmonin"],"gene_symbol":"USH1C","hgnc_symbol":"USH1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:17515442-17565963","ensembl_id":"ENSG00000006611"}},"GRch38":{"90":{"location":"11:17493895-17544416","ensembl_id":"ENSG00000006611"}}},"hgnc_date_symbol_changed":"1992-06-08"},"entity_type":"gene","entity_name":"USH1C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31858762","10973247","10973248","11239869","21203349","12107438"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Usher syndrome, type 1C MIM# 276904, MONDO:0010171"],"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":["WINS1","LINS"],"biotype":"protein_coding","hgnc_id":"HGNC:30922","gene_name":"lines homolog 1","omim_gene":["610350"],"alias_name":["lines homolog (Drosophila)","lines homolog 1 (Drosophila)"],"gene_symbol":"LINS1","hgnc_symbol":"LINS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:101099574-101143435","ensembl_id":"ENSG00000140471"}},"GRch38":{"90":{"location":"15:100559369-100603230","ensembl_id":"ENSG00000140471"}}},"hgnc_date_symbol_changed":"2015-08-18"},"entity_type":"gene","entity_name":"LINS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34450347","21937992","32802957","32499722"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Intellectual developmental disorder, autosomal recessive 2, MIM#614340"],"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:6486","gene_name":"laminin subunit beta 1","omim_gene":["150240"],"alias_name":null,"gene_symbol":"LAMB1","hgnc_symbol":"LAMB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:107564244-107643700","ensembl_id":"ENSG00000091136"}},"GRch38":{"90":{"location":"7:107923799-108003255","ensembl_id":"ENSG00000091136"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"LAMB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23472759","25925986","29888467","25925986","32548278","34606115","32548278","34606115"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Lissencephaly 5, 615191 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:291","gene_name":"adenylosuccinate lyase","omim_gene":["608222"],"alias_name":null,"gene_symbol":"ADSL","hgnc_symbol":"ADSL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:40742507-40786467","ensembl_id":"ENSG00000239900"}},"GRch38":{"90":{"location":"22:40346500-40390463","ensembl_id":"ENSG00000239900"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ADSL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["PMID: 25112391","1302001","22180458","18524658"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Adenylosuccinase deficiency, 103050 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0309","EAF1","SWR1","DOMO1"],"biotype":"protein_coding","hgnc_id":"HGNC:16974","gene_name":"Snf2 related CREBBP activator protein","omim_gene":["611421"],"alias_name":["Swi2/Snf2-related ATPase homolog (S. cerevisiae)","domino homolog 1 (Drosophila)"],"gene_symbol":"SRCAP","hgnc_symbol":"SRCAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:30709530-30755602","ensembl_id":"ENSG00000080603"}},"GRch38":{"90":{"location":"16:30698209-30741409","ensembl_id":"ENSG00000080603"}}},"hgnc_date_symbol_changed":"2007-11-29"},"entity_type":"gene","entity_name":"SRCAP","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Floating-Harbor syndrome MIM#136140","Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PA","MGC116735","MGC116737"],"biotype":"protein_coding","hgnc_id":"HGNC:3381","gene_name":"erythrocyte membrane protein band 4.2","omim_gene":["177070"],"alias_name":["Erythrocyte surface protein band 4.2"],"gene_symbol":"EPB42","hgnc_symbol":"EPB42","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:43398423-43513481","ensembl_id":"ENSG00000166947"}},"GRch38":{"90":{"location":"15:43106225-43221283","ensembl_id":"ENSG00000166947"}}},"hgnc_date_symbol_changed":"1991-05-21"},"entity_type":"gene","entity_name":"EPB42","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Spherocytosis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HIRS-1"],"biotype":"protein_coding","hgnc_id":"HGNC:6125","gene_name":"insulin receptor substrate 1","omim_gene":["147545"],"alias_name":null,"gene_symbol":"IRS1","hgnc_symbol":"IRS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:227596033-227664475","ensembl_id":"ENSG00000169047"}},"GRch38":{"90":{"location":"2:226731317-226799759","ensembl_id":"ENSG00000169047"}}},"hgnc_date_symbol_changed":"1992-08-24"},"entity_type":"gene","entity_name":"IRS1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Diabetes mellitus, noninsulin dependent"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PTPS"],"biotype":"protein_coding","hgnc_id":"HGNC:9689","gene_name":"6-pyruvoyltetrahydropterin synthase","omim_gene":["612719"],"alias_name":null,"gene_symbol":"PTS","hgnc_symbol":"PTS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:112097088-112140678","ensembl_id":"ENSG00000150787"}},"GRch38":{"90":{"location":"11:112226365-112269955","ensembl_id":"ENSG00000150787"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"PTS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Hyperphenylalaninemia, BH4-deficient, A, MIM#261640"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BLOC3S1"],"biotype":"protein_coding","hgnc_id":"HGNC:5163","gene_name":"HPS1, biogenesis of lysosomal organelles complex 3 subunit 1","omim_gene":["604982"],"alias_name":null,"gene_symbol":"HPS1","hgnc_symbol":"HPS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:100175955-100206684","ensembl_id":"ENSG00000107521"}},"GRch38":{"90":{"location":"10:98416198-98446947","ensembl_id":"ENSG00000107521"}}},"hgnc_date_symbol_changed":"2002-05-01"},"entity_type":"gene","entity_name":"HPS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9497254"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["MONDO:0008748","Hermansky-Pudlak syndrome 1, MIM# 203300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. 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