{"count":36039,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=99","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=97","results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:20318","gene_name":"SPARC related modular calcium binding 1","omim_gene":["608488"],"alias_name":null,"gene_symbol":"SMOC1","hgnc_symbol":"SMOC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:70320848-70499083","ensembl_id":"ENSG00000198732"}},"GRch38":{"90":{"location":"14:69854131-70032366","ensembl_id":"ENSG00000198732"}}},"hgnc_date_symbol_changed":"2003-01-24"},"entity_type":"gene","entity_name":"SMOC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21194678","21194680","30445150"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Microphthalmia with limb anomalies, MIM# 206920"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":42,"hash_id":null,"name":"Anophthalmia_Microphthalmia_Coloboma","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with isolated and syndromic anophthalmia, microphthalmia and coloboma.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Anophthalmia or Microphthalmia' v1.31 and 'Ocular coloboma' v1.38 panels, with discrepancies reviewed and reciprocal feedback provided to Genomics England.","status":"public","version":"1.57","version_created":"2026-03-03T11:23:37.804849+11:00","relevant_disorders":["Anophthalmia","HP:0000528;Microphthalmia","HP:0000568;Coloboma","HP:0000589"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6716","gene_name":"latent transforming growth factor beta binding protein 3","omim_gene":["602090"],"alias_name":null,"gene_symbol":"LTBP3","hgnc_symbol":"LTBP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65306276-65326401","ensembl_id":"ENSG00000168056"}},"GRch38":{"90":{"location":"11:65538805-65558930","ensembl_id":"ENSG00000168056"}}},"hgnc_date_symbol_changed":"1995-05-11"},"entity_type":"gene","entity_name":"LTBP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29625025","34150014"],"evidence":["Expert Review Green","Other"],"phenotypes":["Thoracic aortic aneurysms and dissections"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":44,"hash_id":null,"name":"Aortopathy_Connective Tissue Disorders","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt contains genes that cause isolated thoracic aortic aneurysm; connective tissue disorders, including Ehlers Danlos syndromes and cutis laxa; and other syndromic/multi-system disorders where connective tissue involvement is prominent.\r\n\r\nThis panel incorporates assessments from the ClinGen Familial Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel (PMID: 30071989) and the  \r\nThe 2017 international classification of the Ehlers-Danlos syndromes (PMID: 28306229).\r\n\r\nThe panel has been compared against the Genomics England PanelApp 'Thoracic Aortic Aneurysm and Dissection' and 'Ehlers Danlos syndrome' panels, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England.\r\n\r\nFurther comparison and consolidation undertaken against the Genomics England/GMS 'Thoracic aortic aneurysm and dissection' panel V4.0 in July 2025.","status":"public","version":"1.105","version_created":"2026-02-05T18:09:24.690760+11:00","relevant_disorders":["Aortic aneurysm","HP:0004942;Joint dislocation","HP:0001373;Cutis laxa","HP:0000973; Ectopia lentis","HP:0001083;Arachnodactyly","HP:0001166"],"stats":{"number_of_genes":100,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:14428","gene_name":"RAN binding protein 17","omim_gene":["606141"],"alias_name":null,"gene_symbol":"RANBP17","hgnc_symbol":"RANBP17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:170288874-170727019","ensembl_id":"ENSG00000204764"}},"GRch38":{"90":{"location":"5:170861870-171300015","ensembl_id":"ENSG00000204764"}}},"hgnc_date_symbol_changed":"2001-01-22"},"entity_type":"gene","entity_name":"RANBP17","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":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":[],"biotype":"protein_coding","hgnc_id":"HGNC:969","gene_name":"Bardet-Biedl syndrome 4","omim_gene":["600374"],"alias_name":null,"gene_symbol":"BBS4","hgnc_symbol":"BBS4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:72978527-73030817","ensembl_id":"ENSG00000140463"}},"GRch38":{"90":{"location":"15:72686179-72738476","ensembl_id":"ENSG00000140463"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"BBS4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12016587","11381270"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bardet-Biedl syndrome 4, MIM#615982","MONDO:0014433"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":53,"hash_id":null,"name":"Bardet Biedl syndrome","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nBardet Biedl syndrome is a multisystem ciliopathy characterised by a combination of obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities.\r\n\r\nMany ciliopathies present with overlapping features, please refer to the Ciliopathy panel if broader spectrum of conditions are being considered.","status":"public","version":"1.14","version_created":"2025-05-21T20:50:29.131780+10:00","relevant_disorders":[],"stats":{"number_of_genes":27,"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":["CHS"],"biotype":"protein_coding","hgnc_id":"HGNC:1968","gene_name":"lysosomal trafficking regulator","omim_gene":["606897"],"alias_name":null,"gene_symbol":"LYST","hgnc_symbol":"LYST","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:235824341-236046940","ensembl_id":"ENSG00000143669"}},"GRch38":{"90":{"location":"1:235661041-235883640","ensembl_id":"ENSG00000143669"}}},"hgnc_date_symbol_changed":"2004-12-10"},"entity_type":"gene","entity_name":"LYST","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Chediak-Higashi syndrome, MIM#\t214500"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":54,"hash_id":null,"name":"Bleeding and Platelet Disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with coagulation, platelet and blood vessel disorders that predispose to bleeding and to thrombosis.","status":"public","version":"1.77","version_created":"2026-04-08T12:32:35.286494+10:00","relevant_disorders":["Abnormal bleeding","HP:0001892;Abnormal thrombosis","HP:0001977"],"stats":{"number_of_genes":140,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ10719"],"biotype":"protein_coding","hgnc_id":"HGNC:25568","gene_name":"Fanconi anemia complementation group I","omim_gene":["611360"],"alias_name":null,"gene_symbol":"FANCI","hgnc_symbol":"FANCI","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89787180-89860492","ensembl_id":"ENSG00000140525"}},"GRch38":{"90":{"location":"15:89243949-89317261","ensembl_id":"ENSG00000140525"}}},"hgnc_date_symbol_changed":"2007-05-03"},"entity_type":"gene","entity_name":"FANCI","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17452773"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anemia, complementation group I, MIM# 609053","MONDO:0012186"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":56,"hash_id":null,"name":"Bone Marrow Failure","disease_group":"Haematological disorders","disease_sub_group":"","description":"Bone marrow failure (BMF) refers to the decreased production of one or more major haematopoietic lineages which leads to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.","status":"public","version":"1.141","version_created":"2026-03-17T18:48:23.244194+11:00","relevant_disorders":["Abnormality of multiple cell lineages of the bone marrow","HP:0012145"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSPB4"],"biotype":"protein_coding","hgnc_id":"HGNC:2388","gene_name":"crystallin alpha A","omim_gene":["123580"],"alias_name":null,"gene_symbol":"CRYAA","hgnc_symbol":"CRYAA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:44589118-44592915","ensembl_id":"ENSG00000160202"}},"GRch38":{"90":{"location":"21:43169008-43172805","ensembl_id":"ENSG00000160202"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CRYAA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9467006","11006246","16735993","17724170","23255486"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cataract 9, multiple types, MIM# 604219"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["p47phox","NOXO2","NCF1A","SH3PXD1A"],"biotype":"protein_coding","hgnc_id":"HGNC:7660","gene_name":"neutrophil cytosolic factor 1","omim_gene":["608512"],"alias_name":["NADPH oxidase organizer 2","chronic granulomatous disease, autosomal 1"],"gene_symbol":"NCF1","hgnc_symbol":"NCF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:74188309-74203659","ensembl_id":"ENSG00000158517"}},"GRch38":{"90":{"location":"7:74773962-74789315","ensembl_id":"ENSG00000158517"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"NCF1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Chronic granulomatous disease due to deficiency of NCF-1 MIM#233700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["IRP2"],"biotype":"protein_coding","hgnc_id":"HGNC:6115","gene_name":"iron responsive element binding protein 2","omim_gene":["147582"],"alias_name":null,"gene_symbol":"IREB2","hgnc_symbol":"IREB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:78729773-78793798","ensembl_id":"ENSG00000136381"}},"GRch38":{"90":{"location":"15:78437431-78501456","ensembl_id":"ENSG00000136381"}}},"hgnc_date_symbol_changed":"1991-02-20"},"entity_type":"gene","entity_name":"IREB2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 39213953"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451"],"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":["CORDX1"],"biotype":"protein_coding","hgnc_id":"HGNC:10295","gene_name":"retinitis pigmentosa GTPase regulator","omim_gene":["312610"],"alias_name":null,"gene_symbol":"RPGR","hgnc_symbol":"RPGR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:38128416-38186817","ensembl_id":"ENSG00000156313"}},"GRch38":{"90":{"location":"X:38269163-38327564","ensembl_id":"ENSG00000156313"}}},"hgnc_date_symbol_changed":"1999-04-29"},"entity_type":"gene","entity_name":"RPGR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10094550","12920075","16055928"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":82,"hash_id":null,"name":"Ciliary Dyskinesia","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.75","version_created":"2026-03-30T10:17:46.701193+11:00","relevant_disorders":["Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205"],"stats":{"number_of_genes":77,"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":["OFIP","MNR"],"biotype":"protein_coding","hgnc_id":"HGNC:29110","gene_name":"KIAA0753","omim_gene":["617112"],"alias_name":["moonraker","OFD1 and FOPNL interacting protein"],"gene_symbol":"KIAA0753","hgnc_symbol":"KIAA0753","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:6481468-6544247","ensembl_id":"ENSG00000198920"}},"GRch38":{"90":{"location":"17:6578148-6640927","ensembl_id":"ENSG00000198920"}}},"hgnc_date_symbol_changed":"2005-12-13"},"entity_type":"gene","entity_name":"KIAA0753","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31816441","28220259","29138412","26643951","31816441","33875766","34016807"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Orofaciodigital syndrome XV 617127","Joubert syndrome 38, MIM#\t619476","Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:11438","gene_name":"syntaxin 3","omim_gene":["600876"],"alias_name":null,"gene_symbol":"STX3","hgnc_symbol":"STX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:59480929-59573354","ensembl_id":"ENSG00000166900"}},"GRch38":{"90":{"location":"11:59713456-59805882","ensembl_id":"ENSG00000166900"}}},"hgnc_date_symbol_changed":"2006-04-25"},"entity_type":"gene","entity_name":"STX3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24726755","29266534","25358429","29282386","30909251","29282386"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Microvillus inclusion disease, MIM#619445","Retinal dystrophy and microvillus inclusion disease, MIM#619446"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":89,"hash_id":null,"name":"Congenital Diarrhoea","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nCongenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. Severe chronic diarrhoea may be the main clinical manifestation or it may be a component of a more complex multi-organ or systemic disease.\r\n\r\nCDDs can be classified in four groups: (i) defects of digestion, absorption and transport of nutrients and electrolytes; (ii) defects of enterocyte differentiation and polarisation; (iii) defects of enteroendocrine cell differentiation; (iv) defects of modulation of intestinal immune response.","status":"public","version":"1.30","version_created":"2025-11-20T10:28:34.792243+11:00","relevant_disorders":["Diarrhea HP:0002014"],"stats":{"number_of_genes":46,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ALK-5","ACVRLK4","ALK5"],"biotype":"protein_coding","hgnc_id":"HGNC:11772","gene_name":"transforming growth factor beta receptor 1","omim_gene":["190181"],"alias_name":["activin A receptor type II-like kinase, 53kDa"],"gene_symbol":"TGFBR1","hgnc_symbol":"TGFBR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:101866320-101916474","ensembl_id":"ENSG00000106799"}},"GRch38":{"90":{"location":"9:99104038-99154192","ensembl_id":"ENSG00000106799"}}},"hgnc_date_symbol_changed":"1993-09-30"},"entity_type":"gene","entity_name":"TGFBR1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["15731757"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Loeys-Dietz syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":93,"hash_id":null,"name":"Craniosynostosis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH. It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.","status":"public","version":"1.85","version_created":"2026-04-07T13:46:55.940488+10:00","relevant_disorders":["Craniosynostosis HP:0001363"],"stats":{"number_of_genes":105,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["WDRPUH","FLJ37528"],"biotype":"protein_coding","hgnc_id":"HGNC:16053","gene_name":"cilia and flagella associated protein 52","omim_gene":["609804"],"alias_name":["WD40-repeat protein upregulated in HCC"],"gene_symbol":"CFAP52","hgnc_symbol":"CFAP52","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:9479944-9546776","ensembl_id":"ENSG00000166596"}},"GRch38":{"90":{"location":"17:9576627-9643459","ensembl_id":"ENSG00000166596"}}},"hgnc_date_symbol_changed":"2014-09-29"},"entity_type":"gene","entity_name":"CFAP52","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25469542","33139725"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":108,"hash_id":null,"name":"Heterotaxy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Laterality disorders and isomerism' panel V1.19, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.45","version_created":"2026-03-17T16:09:39.911604+11:00","relevant_disorders":["Heterotaxy","HP:0030853; Dextrocardia","HP:0001651; Asplenia","HP:0001746; Abnormal spatial orientation of cardiac segments","HP:0011534; Polysplenia","HP:0001748;Midline liver","HP:0034188"],"stats":{"number_of_genes":67,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7865","gene_name":"nodal growth differentiation factor","omim_gene":["601265"],"alias_name":null,"gene_symbol":"NODAL","hgnc_symbol":"NODAL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:72192071-72207707","ensembl_id":"ENSG00000156574"}},"GRch38":{"90":{"location":"10:70432315-70447951","ensembl_id":"ENSG00000156574"}}},"hgnc_date_symbol_changed":"1998-06-05"},"entity_type":"gene","entity_name":"NODAL","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["9354794","19064609"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Heterotaxy, visceral, 5 (MIM#270100)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"panel":{"id":112,"hash_id":null,"name":"Holoprosencephaly and septo-optic dysplasia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"1.24","version_created":"2026-03-03T11:24:20.637349+11:00","relevant_disorders":["Holoprosencephaly","HP:0001360; Septo-optic dysplasia","HP:0100842"],"stats":{"number_of_genes":31,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DXS423E","KIAA0178","SB1.8","Smcb"],"biotype":"protein_coding","hgnc_id":"HGNC:11111","gene_name":"structural maintenance of chromosomes 1A","omim_gene":["300040"],"alias_name":null,"gene_symbol":"SMC1A","hgnc_symbol":"SMC1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:53401070-53449677","ensembl_id":"ENSG00000072501"}},"GRch38":{"90":{"location":"X:53374149-53422728","ensembl_id":"ENSG00000072501"}}},"hgnc_date_symbol_changed":"2006-07-06"},"entity_type":"gene","entity_name":"SMC1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31334757","28166369"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM#\t301044"],"mode_of_inheritance":"Other","tags":[],"panel":{"id":112,"hash_id":null,"name":"Holoprosencephaly and septo-optic dysplasia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"1.24","version_created":"2026-03-03T11:24:20.637349+11:00","relevant_disorders":["Holoprosencephaly","HP:0001360; Septo-optic dysplasia","HP:0100842"],"stats":{"number_of_genes":31,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["NHERF","EBP50","NHERF1"],"biotype":"protein_coding","hgnc_id":"HGNC:11075","gene_name":"SLC9A3 regulator 1","omim_gene":["604990"],"alias_name":null,"gene_symbol":"SLC9A3R1","hgnc_symbol":"SLC9A3R1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:72744791-72765492","ensembl_id":"ENSG00000109062"}},"GRch38":{"90":{"location":"17:74748652-74769353","ensembl_id":"ENSG00000109062"}}},"hgnc_date_symbol_changed":"1999-02-26"},"entity_type":"gene","entity_name":"SLC9A3R1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["18784102"],"evidence":["KidGen_CalcPhos v38.1.0","Expert Review Red","Expert Review Red","KidGen_CalcPhos v38.1.0"],"phenotypes":["Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":122,"hash_id":null,"name":"Hypophosphataemia or rickets","disease_group":"Endocrine disorders; Skeletal disorders","disease_sub_group":"","description":"This panel contains genes associated with hypophosphataemia or rickets. \r\n\r\nIt has been compared against the Genomics England PanelApp 'hypophosphataemia or rickets' panel V4.1, with all discrepancies reviewed and resolved (October 2025).","status":"public","version":"0.53","version_created":"2026-02-05T11:00:41.159014+11:00","relevant_disorders":[],"stats":{"number_of_genes":19,"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":null},{"gene_data":{"alias":["DHSR","SDR35C1"],"biotype":"protein_coding","hgnc_id":"HGNC:4021","gene_name":"3-ketodihydrosphingosine reductase","omim_gene":["136440"],"alias_name":["3-dehydrosphinganine reductase","short chain dehydrogenase/reductase family 35C, member 1"],"gene_symbol":"KDSR","hgnc_symbol":"KDSR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:60994959-61034743","ensembl_id":"ENSG00000119537"}},"GRch38":{"90":{"location":"18:63327726-63367510","ensembl_id":"ENSG00000119537"}}},"hgnc_date_symbol_changed":"2008-02-20"},"entity_type":"gene","entity_name":"KDSR","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["28774589"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Harlequin ichthyosis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":124,"hash_id":null,"name":"Ichthyosis and Porokeratosis","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH. It contains genes that cause non-syndromic and syndromic ichthyosis and porokeratosis.","status":"public","version":"1.25","version_created":"2026-03-19T12:26:58.874178+11:00","relevant_disorders":["Ichthyosis","HP:0008064;Porokeratosis","HP:0200044"],"stats":{"number_of_genes":65,"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":"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":["DKFZP564B1023","ZNHIT5"],"biotype":"protein_coding","hgnc_id":"HGNC:25360","gene_name":"DEAD-box helicase 59","omim_gene":["615464"],"alias_name":null,"gene_symbol":"DDX59","hgnc_symbol":"DDX59","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:200593024-200639097","ensembl_id":"ENSG00000118197"}},"GRch38":{"90":{"location":"1:200623896-200669969","ensembl_id":"ENSG00000118197"}}},"hgnc_date_symbol_changed":"2005-02-22"},"entity_type":"gene","entity_name":"DDX59","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29127725","23972372","28711741"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Orofaciodigital syndrome V (MIM#174300)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":129,"hash_id":null,"name":"Joubert syndrome and other neurological ciliopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes associated with Joubert syndrome, Meckel Gruber syndrome and other ciliopathies where structural CNS abnormalities are prominent.\r\n\r\nPlease consider also applying the Cerebellar and Pontocerebellar Hypoplasia panel in the presence of more non-specific cerebellar abnormalities and applying the Ciliopathy panel in the presence of additional clinical features suggestive of a multi-system ciliopathy.","status":"public","version":"1.33","version_created":"2025-12-16T12:55:34.757878+11:00","relevant_disorders":["Molar tooth sign on MRI","HP:0002419; Joubert syndrome","MONDO:0018772"],"stats":{"number_of_genes":69,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KBF1","p105","NFKB-p50","p50","NF-kappaB","NFkappaB","NF-kB1"],"biotype":"protein_coding","hgnc_id":"HGNC:7794","gene_name":"nuclear factor kappa B subunit 1","omim_gene":["164011"],"alias_name":null,"gene_symbol":"NFKB1","hgnc_symbol":"NFKB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:103422486-103538459","ensembl_id":"ENSG00000109320"}},"GRch38":{"90":{"location":"4:102501329-102617302","ensembl_id":"ENSG00000109320"}}},"hgnc_date_symbol_changed":"1991-11-14"},"entity_type":"gene","entity_name":"NFKB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26279205","32278790","27022143","7834752"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency, common variable, 12 MIM# 616576","Normal-low IgG, IgA, IgM","low-normal B cells","low switched memory B cells","hypogammaglobulinaemia","recurrent respiratory and gastrointestinal infections","Chronic obstructive pulmonary disease COPD","EBV proliferation","autoimmunity","alopecia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":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":["FXI"],"biotype":"protein_coding","hgnc_id":"HGNC:3529","gene_name":"coagulation factor XI","omim_gene":["264900"],"alias_name":["plasma thromboplastin antecedent"],"gene_symbol":"F11","hgnc_symbol":"F11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:187187099-187210835","ensembl_id":"ENSG00000088926"}},"GRch38":{"90":{"location":"4:186265945-186288806","ensembl_id":"ENSG00000088926"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"F11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18446632","15026311"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Factor XI deficiency, autosomal dominant 612416","Factor XI deficiency, autosomal recessive, MIM#612416"],"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":["ECE3","CD238"],"biotype":"protein_coding","hgnc_id":"HGNC:6308","gene_name":"Kell blood group, metallo-endopeptidase","omim_gene":["613883"],"alias_name":null,"gene_symbol":"KEL","hgnc_symbol":"KEL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:142638201-142659768","ensembl_id":"ENSG00000197993"}},"GRch38":{"90":{"location":"7:142941114-142962681","ensembl_id":"ENSG00000197993"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"KEL","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["30578106","37978175"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["vein of Galen aneurysm, MONDO:0015196"],"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":null},{"gene_data":{"alias":["HsT16328","PWCR"],"biotype":"protein_coding","hgnc_id":"HGNC:7675","gene_name":"necdin, MAGE family member","omim_gene":["602117"],"alias_name":["Prader-Willi syndrome chromosome region"],"gene_symbol":"NDN","hgnc_symbol":"NDN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:23930565-23932450","ensembl_id":"ENSG00000182636"}},"GRch38":{"90":{"location":"15:23685400-23687330","ensembl_id":"ENSG00000182636"}}},"hgnc_date_symbol_changed":"1997-10-13"},"entity_type":"gene","entity_name":"NDN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Prader-Willi syndrome, MIM# 176270"],"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":null},{"gene_data":{"alias":["KIAA0024","PSSA","PSS1"],"biotype":"protein_coding","hgnc_id":"HGNC:9587","gene_name":"phosphatidylserine synthase 1","omim_gene":["612792"],"alias_name":null,"gene_symbol":"PTDSS1","hgnc_symbol":"PTDSS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:97273943-97349223","ensembl_id":"ENSG00000156471"}},"GRch38":{"90":{"location":"8:96261715-96336995","ensembl_id":"ENSG00000156471"}}},"hgnc_date_symbol_changed":"2000-01-21"},"entity_type":"gene","entity_name":"PTDSS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24241535","29341480","31403251"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Lenz-Majewski hyperostotic dwarfism MIM#151050"],"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":null},{"gene_data":{"alias":["TA-WDRP","UTP21"],"biotype":"protein_coding","hgnc_id":"HGNC:30696","gene_name":"WD repeat domain 36","omim_gene":["609669"],"alias_name":null,"gene_symbol":"WDR36","hgnc_symbol":"WDR36","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:110427414-110466200","ensembl_id":"ENSG00000134987"}},"GRch38":{"90":{"location":"5:111091716-111130502","ensembl_id":"ENSG00000134987"}}},"hgnc_date_symbol_changed":"2004-03-16"},"entity_type":"gene","entity_name":"WDR36","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["15677485","18172102","20813748"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Glaucoma 1, open angle, G, MIM# 609887"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","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":["MDC3"],"biotype":"protein_coding","hgnc_id":"HGNC:202","gene_name":"ADAM metallopeptidase domain 23","omim_gene":["603710"],"alias_name":null,"gene_symbol":"ADAM23","hgnc_symbol":"ADAM23","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:207308263-207485851","ensembl_id":"ENSG00000114948"}},"GRch38":{"90":{"location":"2:206443539-206621130","ensembl_id":"ENSG00000114948"}}},"hgnc_date_symbol_changed":"1998-12-01"},"entity_type":"gene","entity_name":"ADAM23","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["(PMID: 40455867)"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neonatal-onset developmental and epileptic encephalopathy, MONDO:0100455, ADAM23-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":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":["NS1-BP","HSPC068","NS-1","KIAA0850","ND1","KLHL39"],"biotype":"protein_coding","hgnc_id":"HGNC:16951","gene_name":"influenza virus NS1A binding protein","omim_gene":["609209"],"alias_name":["kelch-like family member 39"],"gene_symbol":"IVNS1ABP","hgnc_symbol":"IVNS1ABP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:185265520-185286461","ensembl_id":"ENSG00000116679"}},"GRch38":{"90":{"location":"1:185296388-185317329","ensembl_id":"ENSG00000116679"}}},"hgnc_date_symbol_changed":"2003-05-19"},"entity_type":"gene","entity_name":"IVNS1ABP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32499645"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Immunodeficiency 70, MIM#618969"],"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":["FLJ31228","DKFZp434F195"],"biotype":"protein_coding","hgnc_id":"HGNC:19946","gene_name":"calmodulin regulated spectrin associated protein 1","omim_gene":["613774"],"alias_name":null,"gene_symbol":"CAMSAP1","hgnc_symbol":"CAMSAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:138700333-138799074","ensembl_id":"ENSG00000130559"}},"GRch38":{"90":{"location":"9:135808487-135907228","ensembl_id":"ENSG00000130559"}}},"hgnc_date_symbol_changed":"2003-12-09"},"entity_type":"gene","entity_name":"CAMSAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36283405"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1291"],"biotype":"protein_coding","hgnc_id":"HGNC:17675","gene_name":"exportin 5","omim_gene":["607845"],"alias_name":null,"gene_symbol":"XPO5","hgnc_symbol":"XPO5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:43490072-43543812","ensembl_id":"ENSG00000124571"}},"GRch38":{"90":{"location":"6:43522330-43576075","ensembl_id":"ENSG00000124571"}}},"hgnc_date_symbol_changed":"2003-03-10"},"entity_type":"gene","entity_name":"XPO5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["26878725"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Nephrotic syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":144,"hash_id":null,"name":"Proteinuria","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"To be used in individuals with suspected nephrotic syndrome and related conditions, part of the Renal Glomerular Disease Superpanel.\r\n\r\n09/01/2020: This panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.","status":"public","version":"0.239","version_created":"2026-03-12T18:51:41.043263+11:00","relevant_disorders":["Proteinuria HP:0000093"],"stats":{"number_of_genes":88,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["S28"],"biotype":"protein_coding","hgnc_id":"HGNC:10418","gene_name":"ribosomal protein S28","omim_gene":["603685"],"alias_name":["40S ribosomal protein S28"],"gene_symbol":"RPS28","hgnc_symbol":"RPS28","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:8386042-8388224","ensembl_id":"ENSG00000233927"}},"GRch38":{"90":{"location":"19:8321158-8323340","ensembl_id":"ENSG00000233927"}}},"hgnc_date_symbol_changed":"1993-12-07"},"entity_type":"gene","entity_name":"RPS28","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24942156"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":160,"hash_id":null,"name":"Pierre Robin Sequence","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.64","version_created":"2026-04-12T14:13:00.975329+10:00","relevant_disorders":["Pierre Robin sequence","HP:0000201"],"stats":{"number_of_genes":55,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RGS-PX2"],"biotype":"protein_coding","hgnc_id":"HGNC:14977","gene_name":"sorting nexin 14","omim_gene":["616105"],"alias_name":null,"gene_symbol":"SNX14","hgnc_symbol":"SNX14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:86215214-86303874","ensembl_id":"ENSG00000135317"}},"GRch38":{"90":{"location":"6:85505496-85594156","ensembl_id":"ENSG00000135317"}}},"hgnc_date_symbol_changed":"2003-09-04"},"entity_type":"gene","entity_name":"SNX14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34130600","29884839"],"evidence":["Expert Review Green"],"phenotypes":["Disorders of autophagy","autosomal recessive spinocerebellar ataxia 20 MONDO:0014601"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":181,"hash_id":null,"name":"Lysosomal Storage Disorder","disease_group":"Metabolic conditions","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe lysosomal storage diseases are a group of progressive metabolic disorders that are caused by enzyme deficiencies within the lysosome. The abnormal storage process leads to a broad spectrum of somatic and/or neurological clinical manifestations depending on the specific substrate and site of accumulation. Examples include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses.\r\n\r\nIf the clinical presentation is not specific for a lysosomal storage disorder, please consider the broader Metabolic Disorders Superpanel.","status":"public","version":"1.31","version_created":"2026-03-31T16:05:25.488597+11:00","relevant_disorders":["Lysosomal storage disorder","MONDO:0002561; Visceromegaly","HP:0003271"],"stats":{"number_of_genes":80,"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":["RP55"],"biotype":"protein_coding","hgnc_id":"HGNC:13210","gene_name":"ADP ribosylation factor like GTPase 6","omim_gene":["608845"],"alias_name":null,"gene_symbol":"ARL6","hgnc_symbol":"ARL6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:97483365-97519953","ensembl_id":"ENSG00000113966"}},"GRch38":{"90":{"location":"3:97764521-97801242","ensembl_id":"ENSG00000113966"}}},"hgnc_date_symbol_changed":"2004-08-18"},"entity_type":"gene","entity_name":"ARL6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15258860","32361989","31888296","25402481"],"evidence":["Expert Review Green","KidGen_CilioNephronop v38.1.0"],"phenotypes":["Bardet-Biedl syndrome 3, MIM# 600151"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":193,"hash_id":null,"name":"Renal Ciliopathies and Nephronophthisis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen","status":"public","version":"1.53","version_created":"2026-03-19T17:14:29.802874+11:00","relevant_disorders":["Abnormality of renal medullary morphology","HP:0025361; Renal cyst","HP:0000107"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC10527","DKFZP564J0123","E3-3","2P1"],"biotype":"protein_coding","hgnc_id":"HGNC:29918","gene_name":"NADH:ubiquinone oxidoreductase complex assembly factor 3","omim_gene":["612911"],"alias_name":null,"gene_symbol":"NDUFAF3","hgnc_symbol":"NDUFAF3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:49057892-49060928","ensembl_id":"ENSG00000178057"}},"GRch38":{"90":{"location":"3:49020459-49023495","ensembl_id":"ENSG00000178057"}}},"hgnc_date_symbol_changed":"2009-03-18"},"entity_type":"gene","entity_name":"NDUFAF3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Mitochondrial complex I deficiency, MIM#252010"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BFNC"],"biotype":"protein_coding","hgnc_id":"HGNC:1958","gene_name":"cholinergic receptor nicotinic alpha 4 subunit","omim_gene":["118504"],"alias_name":["acetylcholine receptor, nicotinic, alpha 4 (neuronal)"],"gene_symbol":"CHRNA4","hgnc_symbol":"CHRNA4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:61975420-62009753","ensembl_id":"ENSG00000101204"}},"GRch38":{"90":{"location":"20:63343223-63378401","ensembl_id":"ENSG00000101204"}}},"hgnc_date_symbol_changed":"1990-05-11"},"entity_type":"gene","entity_name":"CHRNA4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["14623738","23114665"],"evidence":["Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Epilepsy, nocturnal frontal lobe, 1, MIM# 600513"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FBL4","FBL5"],"biotype":"protein_coding","hgnc_id":"HGNC:13601","gene_name":"F-box and leucine rich repeat protein 4","omim_gene":["605654"],"alias_name":null,"gene_symbol":"FBXL4","hgnc_symbol":"FBXL4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:99316420-99395849","ensembl_id":"ENSG00000112234"}},"GRch38":{"90":{"location":"6:98868538-98948006","ensembl_id":"ENSG00000112234"}}},"hgnc_date_symbol_changed":"2000-09-27"},"entity_type":"gene","entity_name":"FBXL4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28940506"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ET"],"biotype":"protein_coding","hgnc_id":"HGNC:8756","gene_name":"phosphate cytidylyltransferase 2, ethanolamine","omim_gene":["602679"],"alias_name":["CTP:phosphoethanolamine cytidylyltransferase"],"gene_symbol":"PCYT2","hgnc_symbol":"PCYT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:79858841-79869340","ensembl_id":"ENSG00000185813"}},"GRch38":{"90":{"location":"17:81900965-81911464","ensembl_id":"ENSG00000185813"}}},"hgnc_date_symbol_changed":"1997-06-09"},"entity_type":"gene","entity_name":"PCYT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31637422"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["intellectual disability","regression","spastic para-/tetraparesis","epilepsy","progressive cerebral and cerebellar atrophy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["D12S1889","NKHC","MY050"],"biotype":"protein_coding","hgnc_id":"HGNC:6323","gene_name":"kinesin family member 5A","omim_gene":["602821"],"alias_name":null,"gene_symbol":"KIF5A","hgnc_symbol":"KIF5A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:57943781-57980415","ensembl_id":"ENSG00000155980"}},"GRch38":{"90":{"location":"12:57549998-57586632","ensembl_id":"ENSG00000155980"}}},"hgnc_date_symbol_changed":"1998-08-24"},"entity_type":"gene","entity_name":"KIF5A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other","publications":["27463701","27414745"],"evidence":["Expert Review Green","Expert Review Red","NHS GMS","Victorian Clinical Genetics Services"],"phenotypes":["Myoclonus, intractable, neonatal MIM#617235"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"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":["HSPC125","bA22L21.1","My013","HRPAP20"],"biotype":"protein_coding","hgnc_id":"HGNC:21034","gene_name":"NADH:ubiquinone oxidoreductase complex assembly factor 4","omim_gene":["611776"],"alias_name":null,"gene_symbol":"NDUFAF4","hgnc_symbol":"NDUFAF4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:97337189-97345757","ensembl_id":"ENSG00000123545"}},"GRch38":{"90":{"location":"6:96889313-96897881","ensembl_id":"ENSG00000123545"}}},"hgnc_date_symbol_changed":"2009-03-18"},"entity_type":"gene","entity_name":"NDUFAF4","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["32949790","28853723","18179882"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237"],"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":["p21","pp21","SIIR","P21","WEX9"],"biotype":"protein_coding","hgnc_id":"HGNC:11616","gene_name":"transcription elongation factor A like 1","omim_gene":["300237"],"alias_name":null,"gene_symbol":"TCEAL1","hgnc_symbol":"TCEAL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:102883632-102885881","ensembl_id":"ENSG00000172465"}},"GRch38":{"90":{"location":"X:103628704-103630953","ensembl_id":"ENSG00000172465"}}},"hgnc_date_symbol_changed":"1998-09-21"},"entity_type":"gene","entity_name":"TCEAL1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 36368327"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":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":["PGP9.5","Uch-L1"],"biotype":"protein_coding","hgnc_id":"HGNC:12513","gene_name":"ubiquitin C-terminal hydrolase L1","omim_gene":["191342"],"alias_name":["ubiquitin thiolesterase"],"gene_symbol":"UCHL1","hgnc_symbol":"UCHL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:41258430-41270472","ensembl_id":"ENSG00000154277"}},"GRch38":{"90":{"location":"4:41256413-41268455","ensembl_id":"ENSG00000154277"}}},"hgnc_date_symbol_changed":"1991-07-15"},"entity_type":"gene","entity_name":"UCHL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23359680","3340629","28007905","32656641","29735986","28007905","35986737"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Spastic paraplegia 79, autosomal recessive, MIM# 615491","MONDO:0014209","Neurodegenerative disease, MONDO:0005559, UCHL1-related"],"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":["RPC11"],"biotype":"protein_coding","hgnc_id":"HGNC:14121","gene_name":"RNA polymerase III subunit K","omim_gene":["606007"],"alias_name":null,"gene_symbol":"POLR3K","hgnc_symbol":"POLR3K","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:96407-103628","ensembl_id":"ENSG00000161980"}},"GRch38":{"90":{"location":"16:46407-53628","ensembl_id":"ENSG00000161980"}}},"hgnc_date_symbol_changed":"2000-12-21"},"entity_type":"gene","entity_name":"POLR3K","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30584594","33659930","https://doi.org/10.1155/2024/8807171"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Hypomyelinating leukodystrophy-21, MIM#619310"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9944","gene_name":"radixin","omim_gene":["179410"],"alias_name":null,"gene_symbol":"RDX","hgnc_symbol":"RDX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:110045605-110167447","ensembl_id":"ENSG00000137710"}},"GRch38":{"90":{"location":"11:110174880-110296722","ensembl_id":"ENSG00000137710"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"RDX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17226784","19215054","22567349","26226137","15314067"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal recessive 24, MIM# 611022"],"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":["Kv7.1","KCNA8","KVLQT1","JLNS1","LQT1"],"biotype":"protein_coding","hgnc_id":"HGNC:6294","gene_name":"potassium voltage-gated channel subfamily Q member 1","omim_gene":["607542"],"alias_name":["Jervell and Lange-Nielsen syndrome 1"],"gene_symbol":"KCNQ1","hgnc_symbol":"KCNQ1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:2465914-2870339","ensembl_id":"ENSG00000053918"}},"GRch38":{"90":{"location":"11:2444684-2849109","ensembl_id":"ENSG00000053918"}}},"hgnc_date_symbol_changed":"1997-02-05"},"entity_type":"gene","entity_name":"KCNQ1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Jervell and Lange-Nielsen syndrome, MIM#\t220400"],"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":["CC-CKR-2","CKR2","MCP-1-R","CD192","FLJ78302"],"biotype":"protein_coding","hgnc_id":"HGNC:1603","gene_name":"C-C motif chemokine receptor 2","omim_gene":["601267"],"alias_name":null,"gene_symbol":"CCR2","hgnc_symbol":"CCR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:46395225-46402419","ensembl_id":"ENSG00000121807"}},"GRch38":{"90":{"location":"3:46353734-46360928","ensembl_id":"ENSG00000121807"}}},"hgnc_date_symbol_changed":"1995-05-30"},"entity_type":"gene","entity_name":"CCR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["38157855"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Polycystic lung disease MIM#219600"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":233,"hash_id":null,"name":"Phagocyte Defects","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with abnormalities in phagocyte number, function or both. Susceptibility to infection from phagocytic dysfunction ranges from mild, recurrent skin infections to overwhelming, fatal systemic infection. Affected individuals are more susceptible to bacterial and fungal infections but have a normal resistance to viral infections. Most are diagnosed in infancy due to the severity of the infection or the unusual presentation of the organism, but some are diagnosed in adulthood. Includes:\r\n- Congenital Neutropenias\r\n- Defects of Motility\r\n- Defects of Respiratory Burst\r\n- Other Non-Lymphoid Defects\r\n\r\nUpdated with the 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications. \r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).\r\n\r\nThis panel was merged with and replaces the Melbourne Genomics Immunology Flagship Neutrophil Defects gene panel (22/03/2021).","status":"public","version":"1.45","version_created":"2025-12-15T10:26:57.519304+11:00","relevant_disorders":["Unusual infection","HP:0032101"],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GL009","FLJ14602"],"biotype":"protein_coding","hgnc_id":"HGNC:26926","gene_name":"jagunal homolog 1","omim_gene":["616012"],"alias_name":null,"gene_symbol":"JAGN1","hgnc_symbol":"JAGN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:9932238-9936033","ensembl_id":"ENSG00000171135"}},"GRch38":{"90":{"location":"3:9890554-9894349","ensembl_id":"ENSG00000171135"}}},"hgnc_date_symbol_changed":"2005-01-19"},"entity_type":"gene","entity_name":"JAGN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25129144"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Neutropaenia, severe congenital, 6, autosomal recessive, MIM# 616022"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":233,"hash_id":null,"name":"Phagocyte Defects","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with abnormalities in phagocyte number, function or both. Susceptibility to infection from phagocytic dysfunction ranges from mild, recurrent skin infections to overwhelming, fatal systemic infection. Affected individuals are more susceptible to bacterial and fungal infections but have a normal resistance to viral infections. Most are diagnosed in infancy due to the severity of the infection or the unusual presentation of the organism, but some are diagnosed in adulthood. Includes:\r\n- Congenital Neutropenias\r\n- Defects of Motility\r\n- Defects of Respiratory Burst\r\n- Other Non-Lymphoid Defects\r\n\r\nUpdated with the 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications. \r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).\r\n\r\nThis panel was merged with and replaces the Melbourne Genomics Immunology Flagship Neutrophil Defects gene panel (22/03/2021).","status":"public","version":"1.45","version_created":"2025-12-15T10:26:57.519304+11:00","relevant_disorders":["Unusual infection","HP:0032101"],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2861","gene_name":"dihydrofolate reductase","omim_gene":["126060"],"alias_name":null,"gene_symbol":"DHFR","hgnc_symbol":"DHFR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:79922047-79950802","ensembl_id":"ENSG00000228716"}},"GRch38":{"90":{"location":"5:80626228-80654983","ensembl_id":"ENSG00000228716"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"DHFR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21310276","21310277"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ST3GalV","SIATGM3S"],"biotype":"protein_coding","hgnc_id":"HGNC:10872","gene_name":"ST3 beta-galactoside alpha-2,3-sialyltransferase 5","omim_gene":["604402"],"alias_name":null,"gene_symbol":"ST3GAL5","hgnc_symbol":"ST3GAL5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:86066267-86116137","ensembl_id":"ENSG00000115525"}},"GRch38":{"90":{"location":"2:85837120-85905199","ensembl_id":"ENSG00000115525"}}},"hgnc_date_symbol_changed":"2005-02-07"},"entity_type":"gene","entity_name":"ST3GAL5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15502825","22990144","30185102","24026681","23436467","22990144","15502825","27232954","30691927","30688114","30576498"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Salt and pepper developmental regression syndrome 609056","GM3 synthase deficiency, MONDO:0018274","Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8856","gene_name":"peroxisomal biogenesis factor 14","omim_gene":["601791"],"alias_name":null,"gene_symbol":"PEX14","hgnc_symbol":"PEX14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:10532345-10690815","ensembl_id":"ENSG00000142655"}},"GRch38":{"90":{"location":"1:10472288-10630758","ensembl_id":"ENSG00000142655"}}},"hgnc_date_symbol_changed":"1998-08-21"},"entity_type":"gene","entity_name":"PEX14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["37493040","20301621"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Peroxisome biogenesis disorder 13A (Zellweger) MIM#614887","peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["bA131P10.1"],"biotype":"protein_coding","hgnc_id":"HGNC:20597","gene_name":"ubiquitin fold modifier 1","omim_gene":["610553"],"alias_name":null,"gene_symbol":"UFM1","hgnc_symbol":"UFM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:38923986-38937140","ensembl_id":"ENSG00000120686"}},"GRch38":{"90":{"location":"13:38349849-38363619","ensembl_id":"ENSG00000120686"}}},"hgnc_date_symbol_changed":"2005-05-27"},"entity_type":"gene","entity_name":"UFM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PubMed: 27545674","27545681","28931644"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Leukodystrophy, hypomyelinating, 14","OMIM #617899"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GPI-H"],"biotype":"protein_coding","hgnc_id":"HGNC:8964","gene_name":"phosphatidylinositol glycan anchor biosynthesis class H","omim_gene":["600154"],"alias_name":["phosphatidylinositol N-acetylglucosaminyltransferase subunit"],"gene_symbol":"PIGH","hgnc_symbol":"PIGH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:68048672-68067004","ensembl_id":"ENSG00000100564"}},"GRch38":{"90":{"location":"14:67581955-67600287","ensembl_id":"ENSG00000100564"}}},"hgnc_date_symbol_changed":"1994-09-06"},"entity_type":"gene","entity_name":"PIGH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29573052","29603516"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Glycosylphosphatidylinositol biosynthesis defect 17, MIM#618010"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PAR-1","Par1b","PAR-1B"],"biotype":"protein_coding","hgnc_id":"HGNC:3332","gene_name":"microtubule affinity regulating kinase 2","omim_gene":["600526"],"alias_name":["ELKL motif kinase 1","serine/threonine kinase","protein-serine/threonine kinase","Ser/Thr protein kinase PAR-1B"],"gene_symbol":"MARK2","hgnc_symbol":"MARK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:63606400-63678491","ensembl_id":"ENSG00000072518"}},"GRch38":{"90":{"location":"11:63838928-63911019","ensembl_id":"ENSG00000072518"}}},"hgnc_date_symbol_changed":"2002-08-01"},"entity_type":"gene","entity_name":"MARK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 39419027, 39436150"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder, autosomal dominant 76, MIM# 621285"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MusTRD1","RBAP2","GTF3","WBSCR12","BEN","Cream1"],"biotype":"protein_coding","hgnc_id":"HGNC:4661","gene_name":"GTF2I repeat domain containing 1","omim_gene":["604318"],"alias_name":["binding factor for early enhancer"],"gene_symbol":"GTF2IRD1","hgnc_symbol":"GTF2IRD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:73868120-74016931","ensembl_id":"ENSG00000006704"}},"GRch38":{"90":{"location":"7:74453790-74602604","ensembl_id":"ENSG00000006704"}}},"hgnc_date_symbol_changed":"1998-11-06"},"entity_type":"gene","entity_name":"GTF2IRD1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31418010"],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FRP1","SCKL","SCKL1","MEC1"],"biotype":"protein_coding","hgnc_id":"HGNC:882","gene_name":"ATR serine/threonine kinase","omim_gene":["601215"],"alias_name":["MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"],"gene_symbol":"ATR","hgnc_symbol":"ATR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:142168077-142297668","ensembl_id":"ENSG00000175054"}},"GRch38":{"90":{"location":"3:142449235-142578826","ensembl_id":"ENSG00000175054"}}},"hgnc_date_symbol_changed":"1998-04-06"},"entity_type":"gene","entity_name":"ATR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12640452","19620979","30199583","23111928"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Seckel syndrome 1, MIM# 210600"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP564I122","cblC"],"biotype":"protein_coding","hgnc_id":"HGNC:24525","gene_name":"methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria","omim_gene":["609831"],"alias_name":null,"gene_symbol":"MMACHC","hgnc_symbol":"MMACHC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45965725-45976739","ensembl_id":"ENSG00000132763"}},"GRch38":{"90":{"location":"1:45500053-45513382","ensembl_id":"ENSG00000132763"}}},"hgnc_date_symbol_changed":"2006-01-12"},"entity_type":"gene","entity_name":"MMACHC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Methylmalonic aciduria and homocystinuria cblC type, 277400","Methylmalonic aciduria and homocystinuria, cblC type, 277400","Ataxia and hypogonadism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TSPAN23","ROM"],"biotype":"protein_coding","hgnc_id":"HGNC:10254","gene_name":"retinal outer segment membrane protein 1","omim_gene":["180721"],"alias_name":null,"gene_symbol":"ROM1","hgnc_symbol":"ROM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:62379194-62382592","ensembl_id":"ENSG00000149489"}},"GRch38":{"90":{"location":"11:62611722-62615120","ensembl_id":"ENSG00000149489"}}},"hgnc_date_symbol_changed":"1990-01-15"},"entity_type":"gene","entity_name":"ROM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32036094","8202715","30630813","24618324","20300562","32716032"],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green"],"phenotypes":["Retinitis pigmentosa 7, digenic, 608133"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":277,"hash_id":null,"name":"Retinitis pigmentosa","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.","status":"public","version":"0.245","version_created":"2026-03-28T13:33:23.781842+11:00","relevant_disorders":["Abnormal retinal morphology","HP:0000479"],"stats":{"number_of_genes":159,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RP39"],"biotype":"protein_coding","hgnc_id":"HGNC:12601","gene_name":"usherin","omim_gene":["608400"],"alias_name":null,"gene_symbol":"USH2A","hgnc_symbol":"USH2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:215796236-216596738","ensembl_id":"ENSG00000042781"}},"GRch38":{"90":{"location":"1:215622894-216423396","ensembl_id":"ENSG00000042781"}}},"hgnc_date_symbol_changed":"1990-03-06"},"entity_type":"gene","entity_name":"USH2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12427073","20507924","17296898","19881469","18273898"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Retinitis pigmentosa 39, 613809","Usher syndrome, type 2A, 276901"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":277,"hash_id":null,"name":"Retinitis pigmentosa","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.","status":"public","version":"0.245","version_created":"2026-03-28T13:33:23.781842+11:00","relevant_disorders":["Abnormal retinal morphology","HP:0000479"],"stats":{"number_of_genes":159,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4908","gene_name":"3-hydroxyisobutyryl-CoA hydrolase","omim_gene":["610690"],"alias_name":null,"gene_symbol":"HIBCH","hgnc_symbol":"HIBCH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:191054461-191208919","ensembl_id":"ENSG00000198130"}},"GRch38":{"90":{"location":"2:190189735-190344193","ensembl_id":"ENSG00000198130"}}},"hgnc_date_symbol_changed":"1999-12-07"},"entity_type":"gene","entity_name":"HIBCH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26026795","25251209","24299452","32677093"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#\t250620"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RPC1","RPC155","hRPC155"],"biotype":"protein_coding","hgnc_id":"HGNC:30074","gene_name":"RNA polymerase III subunit A","omim_gene":["614258"],"alias_name":null,"gene_symbol":"POLR3A","hgnc_symbol":"POLR3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:79734907-79789303","ensembl_id":"ENSG00000148606"}},"GRch38":{"90":{"location":"10:77969251-78029545","ensembl_id":"ENSG00000148606"}}},"hgnc_date_symbol_changed":"2004-09-16"},"entity_type":"gene","entity_name":"POLR3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["21855841"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["POLR3A-related disorder MONDO:0700276"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PEO","PEO1","TWINKLE","FLJ21832","TWINL"],"biotype":"protein_coding","hgnc_id":"HGNC:1160","gene_name":"twinkle mtDNA helicase","omim_gene":["606075"],"alias_name":["T7 helicase-related protein with intramitochondrial nucleoid localization"],"gene_symbol":"TWNK","hgnc_symbol":"TWNK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:102747124-102754158","ensembl_id":"ENSG00000107815"}},"GRch38":{"90":{"location":"10:100987367-100994401","ensembl_id":"ENSG00000107815"}}},"hgnc_date_symbol_changed":"2016-10-11"},"entity_type":"gene","entity_name":"TWNK","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["31455269","19353676"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM# 271245"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:28984","gene_name":"WASH complex subunit 5","omim_gene":["610657"],"alias_name":["strumpellin"],"gene_symbol":"WASHC5","hgnc_symbol":"WASHC5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:126036502-126104082","ensembl_id":"ENSG00000164961"}},"GRch38":{"90":{"location":"8:125024260-125091840","ensembl_id":"ENSG00000164961"}}},"hgnc_date_symbol_changed":"2016-10-14"},"entity_type":"gene","entity_name":"WASHC5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23455931","17160902","31814071","26572744"],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green"],"phenotypes":["Spastic paraplegia 8, autosomal dominant, 603563","MONDO:0011339"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CPRP1","KIAA0214","MARF","CMT2A2"],"biotype":"protein_coding","hgnc_id":"HGNC:16877","gene_name":"mitofusin 2","omim_gene":["608507"],"alias_name":null,"gene_symbol":"MFN2","hgnc_symbol":"MFN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:12040238-12073571","ensembl_id":"ENSG00000116688"}},"GRch38":{"90":{"location":"1:11980181-12013514","ensembl_id":"ENSG00000116688"}}},"hgnc_date_symbol_changed":"2003-02-25"},"entity_type":"gene","entity_name":"MFN2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15064763","15549395","16437557","20008656"],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green"],"phenotypes":["Charcot-Marie-Tooth disease, axonal, type 2A2A 609260","Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087","Hereditary motor and sensory neuropathy VIA, MIM# 601152"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DYNII","DYN2","CMTDIB","CMTDI1","DI-CMTB","CMT2M"],"biotype":"protein_coding","hgnc_id":"HGNC:2974","gene_name":"dynamin 2","omim_gene":["602378"],"alias_name":["dynamin II","cytoskeletal protein"],"gene_symbol":"DNM2","hgnc_symbol":"DNM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:10828755-10944164","ensembl_id":"ENSG00000079805"}},"GRch38":{"90":{"location":"19:10718079-10833488","ensembl_id":"ENSG00000079805"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"DNM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15731758","17636067","33459893","31628461"],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green"],"phenotypes":["Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482","Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482","MONDO:0011674"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8896","gene_name":"phosphoglycerate kinase 1","omim_gene":["311800"],"alias_name":null,"gene_symbol":"PGK1","hgnc_symbol":"PGK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:77320685-77384793","ensembl_id":"ENSG00000102144"}},"GRch38":{"90":{"location":"X:78065188-78129296","ensembl_id":"ENSG00000102144"}}},"hgnc_date_symbol_changed":"1989-04-24"},"entity_type":"gene","entity_name":"PGK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Phosphoglycerate kinase 1 deficiency, 300653 (3)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0949","STK21","CRIK","CITK"],"biotype":"protein_coding","hgnc_id":"HGNC:1985","gene_name":"citron rho-interacting serine/threonine kinase","omim_gene":["605629"],"alias_name":["serine/threonine kinase 21"],"gene_symbol":"CIT","hgnc_symbol":"CIT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:120123595-120315095","ensembl_id":"ENSG00000122966"}},"GRch38":{"90":{"location":"12:119685790-119877291","ensembl_id":"ENSG00000122966"}}},"hgnc_date_symbol_changed":"1999-08-05"},"entity_type":"gene","entity_name":"CIT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Microcephaly 17, primary, autosomal recessive, 617090 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2153","gene_name":"cyclic nucleotide gated channel beta 3","omim_gene":["605080"],"alias_name":null,"gene_symbol":"CNGB3","hgnc_symbol":"CNGB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:87566205-87755903","ensembl_id":"ENSG00000170289"}},"GRch38":{"90":{"location":"8:86553977-86743675","ensembl_id":"ENSG00000170289"}}},"hgnc_date_symbol_changed":"2000-07-12"},"entity_type":"gene","entity_name":"CNGB3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Macular degeneration, juvenile, 248200 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GroEL","HSP60"],"biotype":"protein_coding","hgnc_id":"HGNC:5261","gene_name":"heat shock protein family D (Hsp60) member 1","omim_gene":["118190"],"alias_name":null,"gene_symbol":"HSPD1","hgnc_symbol":"HSPD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:198351305-198381461","ensembl_id":"ENSG00000144381"}},"GRch38":{"90":{"location":"2:197486581-197516737","ensembl_id":"ENSG00000144381"}}},"hgnc_date_symbol_changed":"1991-07-19"},"entity_type":"gene","entity_name":"HSPD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leukodystrophy, hypomyelinating, 4, 612233 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp434D0513","KIAA1864","PPP1R31","CILD5"],"biotype":"protein_coding","hgnc_id":"HGNC:19368","gene_name":"HYDIN, axonemal central pair apparatus protein","omim_gene":["610812"],"alias_name":["protein phosphatase 1, regulatory subunit 31"],"gene_symbol":"HYDIN","hgnc_symbol":"HYDIN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:70841281-71264625","ensembl_id":"ENSG00000157423"}},"GRch38":{"90":{"location":"16:70807378-71230722","ensembl_id":"ENSG00000157423"}}},"hgnc_date_symbol_changed":"2003-06-27"},"entity_type":"gene","entity_name":"HYDIN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ciliary dyskinesia, primary, 5, 608647 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CPAMD4","C5a","C5b"],"biotype":"protein_coding","hgnc_id":"HGNC:1331","gene_name":"complement C5","omim_gene":["120900"],"alias_name":["prepro-C5","C5a anaphylatoxin"],"gene_symbol":"C5","hgnc_symbol":"C5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:123714616-123812554","ensembl_id":"ENSG00000106804"}},"GRch38":{"90":{"location":"9:120952335-121050276","ensembl_id":"ENSG00000106804"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"C5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["C5 deficiency, 609536 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNF113","Cwc24"],"biotype":"protein_coding","hgnc_id":"HGNC:12974","gene_name":"ring finger protein 113A","omim_gene":["300951"],"alias_name":null,"gene_symbol":"RNF113A","hgnc_symbol":"RNF113A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:119004497-119005791","ensembl_id":"ENSG00000125352"}},"GRch38":{"90":{"location":"X:119870475-119871827","ensembl_id":"ENSG00000125352"}}},"hgnc_date_symbol_changed":"2005-03-22"},"entity_type":"gene","entity_name":"RNF113A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31332722"],"evidence":["Expert Review Green","Literature","Victorian Clinical Genetics Services"],"phenotypes":["Trichothiodystrophy 5, nonphotosensitive, 300953"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":3269,"hash_id":null,"name":"Hair disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause syndromic and non-syndromic disorders that have hair abnormalities as a prominent feature of the condition. \r\n\r\nThe conditions include: hypotrichosis, hair shaft disorders with/without hair fragility, ectodermal dysplasias, trichorhinophalangeal syndrome, and atrichia with papular lesions.\r\nFor hypertrichosis the Hypertrichosis syndromes gene panel is more suitable.\r\n\r\nThe panel was developed and is maintained by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.84","version_created":"2026-03-30T12:08:41.487037+11:00","relevant_disorders":["Abnormal hair morphology","HP:0001595"],"stats":{"number_of_genes":60,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CMH10"],"biotype":"protein_coding","hgnc_id":"HGNC:7583","gene_name":"myosin light chain 2","omim_gene":["160781"],"alias_name":["cardiac ventricular myosin light chain 2"],"gene_symbol":"MYL2","hgnc_symbol":"MYL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:111348623-111358526","ensembl_id":"ENSG00000111245"}},"GRch38":{"90":{"location":"12:110910819-110920722","ensembl_id":"ENSG00000111245"}}},"hgnc_date_symbol_changed":"1991-11-21"},"entity_type":"gene","entity_name":"MYL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23365102","27378946","32453731","33731536"],"evidence":["Expert Review Green","London South GLH","South West GLH","NHS GMS"],"phenotypes":["Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM# 619424","Cardiomyopathy, hypertrophic, 10, MIM# 608758"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FCP1"],"biotype":"protein_coding","hgnc_id":"HGNC:2498","gene_name":"CTD phosphatase subunit 1","omim_gene":["604927"],"alias_name":null,"gene_symbol":"CTDP1","hgnc_symbol":"CTDP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:77439801-77514510","ensembl_id":"ENSG00000060069"}},"GRch38":{"90":{"location":"18:79679801-79756623","ensembl_id":"ENSG00000060069"}}},"hgnc_date_symbol_changed":"1999-02-09"},"entity_type":"gene","entity_name":"CTDP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Congenital cataracts - facial dysmorphism - neuropathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["YF13H12","HSCO"],"biotype":"protein_coding","hgnc_id":"HGNC:23287","gene_name":"ETHE1, persulfide dioxygenase","omim_gene":["608451"],"alias_name":null,"gene_symbol":"ETHE1","hgnc_symbol":"ETHE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:44010871-44031396","ensembl_id":"ENSG00000105755"}},"GRch38":{"90":{"location":"19:43506719-43527244","ensembl_id":"ENSG00000105755"}}},"hgnc_date_symbol_changed":"2003-12-15"},"entity_type":"gene","entity_name":"ETHE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Ethylmalonic encephalopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["IMAGE:4942737","DKFZp547D065","DMP4","G-CK"],"biotype":"protein_coding","hgnc_id":"HGNC:22140","gene_name":"FAM20C, golgi associated secretory pathway kinase","omim_gene":["611061"],"alias_name":["dentin matrix protein 4","golgi casein kinase"],"gene_symbol":"FAM20C","hgnc_symbol":"FAM20C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:192969-300711","ensembl_id":"ENSG00000177706"}},"GRch38":{"90":{"location":"7:192969-260745","ensembl_id":"ENSG00000177706"}}},"hgnc_date_symbol_changed":"2003-09-03"},"entity_type":"gene","entity_name":"FAM20C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["2194867118000911","2614802","25974638","17924334","10482879"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Expert list","Emory Genetics Laboratory"],"phenotypes":["Raine syndrome, 259775"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ44734","IGF-II"],"biotype":"protein_coding","hgnc_id":"HGNC:5466","gene_name":"insulin like growth factor 2","omim_gene":["147470"],"alias_name":["somatomedin A","preptin"],"gene_symbol":"IGF2","hgnc_symbol":"IGF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:2150342-2170833","ensembl_id":"ENSG00000167244"}},"GRch38":{"90":{"location":"11:2129112-2141238","ensembl_id":"ENSG00000167244"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"IGF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31544945"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Silver-Russell syndrome 3 MIM#616489"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OS","FXY","TRIM18","RNF59"],"biotype":"protein_coding","hgnc_id":"HGNC:7095","gene_name":"midline 1","omim_gene":["300552"],"alias_name":["Opitz/BBB syndrome"],"gene_symbol":"MID1","hgnc_symbol":"MID1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:10413350-10851773","ensembl_id":"ENSG00000101871"}},"GRch38":{"90":{"location":"X:10445310-10833654","ensembl_id":"ENSG00000101871"}}},"hgnc_date_symbol_changed":"1997-12-12"},"entity_type":"gene","entity_name":"MID1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["OPITZ GBBB SYNDROME, TYPE I","GBBB1"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CI-75k"],"biotype":"protein_coding","hgnc_id":"HGNC:7707","gene_name":"NADH:ubiquinone oxidoreductase core subunit S1","omim_gene":["157655"],"alias_name":["complex I 75kDa subunit","NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"],"gene_symbol":"NDUFS1","hgnc_symbol":"NDUFS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:206979541-207024327","ensembl_id":"ENSG00000023228"}},"GRch38":{"90":{"location":"2:206114817-206159603","ensembl_id":"ENSG00000023228"}}},"hgnc_date_symbol_changed":"1992-04-03"},"entity_type":"gene","entity_name":"NDUFS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 5, MIM#\t618226"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3379,"hash_id":null,"name":"Congenital ophthalmoplegia","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with congenital ophthalmoplegia including those associated with congenital fibrosis of the extra-ocular muscles (CFEOM), Duane anomaly, Moebius syndrome, and gaze palsies.\r\n\r\nIn addition, it includes genes associated with conditions where ophthalmoplegia can occur in infancy/early childhood as a common/prominent feature of a more complex syndromic, metabolic or neuromuscular condition.","status":"public","version":"1.14","version_created":"2025-12-14T20:52:23.588623+11:00","relevant_disorders":["Abnormality of eye movement","HP:0000496"],"stats":{"number_of_genes":55,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4624","gene_name":"glutathione synthetase","omim_gene":["601002"],"alias_name":null,"gene_symbol":"GSS","hgnc_symbol":"GSS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:33516236-33543620","ensembl_id":"ENSG00000100983"}},"GRch38":{"90":{"location":"20:34928430-34955817","ensembl_id":"ENSG00000100983"}}},"hgnc_date_symbol_changed":"1991-05-01"},"entity_type":"gene","entity_name":"GSS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["8896573"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Glutathione synthetase deficiency MIM#266130","Hemolytic anemia due to glutathione synthetase deficiency MIM#231900","Disorders of the gamma-glutamyl cycle"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KRT1A"],"biotype":"protein_coding","hgnc_id":"HGNC:6412","gene_name":"keratin 1","omim_gene":["139350"],"alias_name":null,"gene_symbol":"KRT1","hgnc_symbol":"KRT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:53068520-53074191","ensembl_id":"ENSG00000167768"}},"GRch38":{"90":{"location":"12:52674736-52680407","ensembl_id":"ENSG00000167768"}}},"hgnc_date_symbol_changed":"1991-09-12"},"entity_type":"gene","entity_name":"KRT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28532675","17255957"],"evidence":["Expert Review Green","Genomics England PanelApp","NHS GMS"],"phenotypes":["Ichthyosis histrix","Epidermolytic hyperkeratosis","Palmoplantar keratoderma"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["somatic"],"panel":{"id":3472,"hash_id":null,"name":"Mosaic skin disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"1.15","version_created":"2025-11-28T10:17:48.863556+11:00","relevant_disorders":["Abnormality of skin pigmentation","HP:0001000"],"stats":{"number_of_genes":44,"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":"Tasmanian Clinical Genetics Service","slug":"tasmanian-clinical-genetics-service","description":"Tasmanian Clinical Genetics Service"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"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":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["31111470"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Melanocytic naevus syndrome (MONDO:0044792","MIM#137550)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3472,"hash_id":null,"name":"Mosaic skin disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"1.15","version_created":"2025-11-28T10:17:48.863556+11:00","relevant_disorders":["Abnormality of skin pigmentation","HP:0001000"],"stats":{"number_of_genes":44,"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":"Tasmanian Clinical Genetics Service","slug":"tasmanian-clinical-genetics-service","description":"Tasmanian Clinical Genetics Service"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ40069","FLJ36139","PF22","PCD"],"biotype":"protein_coding","hgnc_id":"HGNC:30492","gene_name":"dynein axonemal assembly factor 3","omim_gene":["614566"],"alias_name":null,"gene_symbol":"DNAAF3","hgnc_symbol":"DNAAF3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:55670031-55678090","ensembl_id":"ENSG00000167646"}},"GRch38":{"90":{"location":"19:55158661-55166722","ensembl_id":"ENSG00000167646"}}},"hgnc_date_symbol_changed":"2012-03-09"},"entity_type":"gene","entity_name":"DNAAF3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22387996","32622824","31186518"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 2, MIM# 606763"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:7370","gene_name":"MSL complex subunit 3","omim_gene":["300609"],"alias_name":null,"gene_symbol":"MSL3","hgnc_symbol":"MSL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:11776278-11793870","ensembl_id":"ENSG00000005302"}},"GRch38":{"90":{"location":"X:11758159-11775753","ensembl_id":"ENSG00000005302"}}},"hgnc_date_symbol_changed":"2008-10-29"},"entity_type":"gene","entity_name":"MSL3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30224647"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Basilicata-Akhtar syndrome, MIM# 301032"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PISSLRE"],"biotype":"protein_coding","hgnc_id":"HGNC:1770","gene_name":"cyclin dependent kinase 10","omim_gene":["603464"],"alias_name":null,"gene_symbol":"CDK10","hgnc_symbol":"CDK10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:89747145-89762772","ensembl_id":"ENSG00000185324"}},"GRch38":{"90":{"location":"16:89680737-89696364","ensembl_id":"ENSG00000185324"}}},"hgnc_date_symbol_changed":"1998-11-30"},"entity_type":"gene","entity_name":"CDK10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28886341","34974531"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Al Kaissi syndrome MIM#617694"],"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":[]},{"gene_data":{"alias":["SAF-A","hnRNPU","FLJ37978","FLJ30202"],"biotype":"protein_coding","hgnc_id":"HGNC:5048","gene_name":"heterogeneous nuclear ribonucleoprotein U","omim_gene":["602869"],"alias_name":["scaffold attachment factor A"],"gene_symbol":"HNRNPU","hgnc_symbol":"HNRNPU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:245014468-245027844","ensembl_id":"ENSG00000153187"}},"GRch38":{"90":{"location":"1:244840638-244864560","ensembl_id":"ENSG00000153187"}}},"hgnc_date_symbol_changed":"2007-08-16"},"entity_type":"gene","entity_name":"HNRNPU","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["28944577","28393272"],"evidence":["Expert Review Red","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Epileptic encephalopathy, early infantile, 54, MIM#617391"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PIP5Kgamma","KIAA0589","LCCS3"],"biotype":"protein_coding","hgnc_id":"HGNC:8996","gene_name":"phosphatidylinositol-4-phosphate 5-kinase type 1 gamma","omim_gene":["606102"],"alias_name":null,"gene_symbol":"PIP5K1C","hgnc_symbol":"PIP5K1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:3630181-3700477","ensembl_id":"ENSG00000186111"}},"GRch38":{"90":{"location":"19:3630183-3700479","ensembl_id":"ENSG00000186111"}}},"hgnc_date_symbol_changed":"1999-12-14"},"entity_type":"gene","entity_name":"PIP5K1C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["17701898","38491417"],"evidence":["Expert Review Green","Literature","Expert list"],"phenotypes":["Lethal congenital contractural syndrome 3 - #611369"],"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":["FLJ20644","G4-1","G5PR"],"biotype":"protein_coding","hgnc_id":"HGNC:17485","gene_name":"protein phosphatase 2 regulatory subunit B''gamma","omim_gene":["615902"],"alias_name":null,"gene_symbol":"PPP2R3C","hgnc_symbol":"PPP2R3C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:35554673-35591723","ensembl_id":"ENSG00000092020"}},"GRch38":{"90":{"location":"14:35085467-35122517","ensembl_id":"ENSG00000092020"}}},"hgnc_date_symbol_changed":"2007-01-22"},"entity_type":"gene","entity_name":"PPP2R3C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30893644","34714774","34750818"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM # 618419"],"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":[]},{"gene_data":{"alias":["VASAP-60","GIIB"],"biotype":"protein_coding","hgnc_id":"HGNC:9411","gene_name":"protein kinase C substrate 80K-H","omim_gene":["177060"],"alias_name":["advanced glycation end-product receptor 2","glucosidase II beta subunit","glucosidase 2 subunit beta","hepatocystin"],"gene_symbol":"PRKCSH","hgnc_symbol":"PRKCSH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:11546109-11561783","ensembl_id":"ENSG00000130175"}},"GRch38":{"90":{"location":"19:11435288-11450968","ensembl_id":"ENSG00000130175"}}},"hgnc_date_symbol_changed":"1989-06-06"},"entity_type":"gene","entity_name":"PRKCSH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Polycystic liver disease"],"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":["Kid","OBP-1","OBP-2"],"biotype":"protein_coding","hgnc_id":"HGNC:6391","gene_name":"kinesin family member 22","omim_gene":["603213"],"alias_name":null,"gene_symbol":"KIF22","hgnc_symbol":"KIF22","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:29802040-29816706","ensembl_id":"ENSG00000079616"}},"GRch38":{"90":{"location":"16:29790719-29805385","ensembl_id":"ENSG00000079616"}}},"hgnc_date_symbol_changed":"2003-01-10"},"entity_type":"gene","entity_name":"KIF22","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Spondyloepimetaphyseal dysplasia with joint laxity, type 2"],"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":["CITRIN","ARALAR2"],"biotype":"protein_coding","hgnc_id":"HGNC:10983","gene_name":"solute carrier family 25 member 13","omim_gene":["603859"],"alias_name":["mitochondrial aspartate glutamate carrier 2"],"gene_symbol":"SLC25A13","hgnc_symbol":"SLC25A13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:95749532-95951459","ensembl_id":"ENSG00000004864"}},"GRch38":{"90":{"location":"7:96120220-96322147","ensembl_id":"ENSG00000004864"}}},"hgnc_date_symbol_changed":"1999-07-13"},"entity_type":"gene","entity_name":"SLC25A13","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301360"],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Citrullinemia, type II, neonatal-onset, MIM# 605814"],"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":["dJ422F24.1","DEHAL1"],"biotype":"protein_coding","hgnc_id":"HGNC:21071","gene_name":"iodotyrosine deiodinase","omim_gene":["612025"],"alias_name":null,"gene_symbol":"IYD","hgnc_symbol":"IYD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:150690028-150727105","ensembl_id":"ENSG00000009765"}},"GRch38":{"90":{"location":"6:150368892-150405969","ensembl_id":"ENSG00000009765"}}},"hgnc_date_symbol_changed":"2006-08-24"},"entity_type":"gene","entity_name":"IYD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18765512","30240412","18434651"],"evidence":["Expert Review Green","BabySeq Category C gene"],"phenotypes":["Thyroid dyshormonogenesis 4, MIM# 274800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","endocrine"],"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":["RPX","ANF"],"biotype":"protein_coding","hgnc_id":"HGNC:4877","gene_name":"HESX homeobox 1","omim_gene":["601802"],"alias_name":null,"gene_symbol":"HESX1","hgnc_symbol":"HESX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:57231944-57260549","ensembl_id":"ENSG00000163666"}},"GRch38":{"90":{"location":"3:57197843-57226521","ensembl_id":"ENSG00000163666"}}},"hgnc_date_symbol_changed":"1998-11-19"},"entity_type":"gene","entity_name":"HESX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene","BeginNGS"],"phenotypes":["Pituitary hormone deficiency, combined, 5, MIM# 182230"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["treatable","endocrine"],"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":["V2R"],"biotype":"protein_coding","hgnc_id":"HGNC:897","gene_name":"arginine vasopressin receptor 2","omim_gene":["300538"],"alias_name":["nephrogenic diabetes insipidus"],"gene_symbol":"AVPR2","hgnc_symbol":"AVPR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153167985-153172620","ensembl_id":"ENSG00000126895"}},"GRch38":{"90":{"location":"X:153902531-153907166","ensembl_id":"ENSG00000126895"}}},"hgnc_date_symbol_changed":"1992-02-28"},"entity_type":"gene","entity_name":"AVPR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Diabetes insipidus, nephrogenic, MIM#304800"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["SV/CNV","treatable","clinical trial","endocrine"],"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":["FLJ37706","RAD26L"],"biotype":"protein_coding","hgnc_id":"HGNC:26922","gene_name":"ERCC excision repair 6 like 2","omim_gene":["615667"],"alias_name":null,"gene_symbol":"ERCC6L2","hgnc_symbol":"ERCC6L2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:98637983-98776842","ensembl_id":"ENSG00000182150"}},"GRch38":{"90":{"location":"9:95875701-96014571","ensembl_id":"ENSG00000182150"}}},"hgnc_date_symbol_changed":"2012-03-30"},"entity_type":"gene","entity_name":"ERCC6L2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["24507776","27185855"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Bone marrow failure syndrome 2, MIM#\t615715"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["beta3GalT6"],"biotype":"protein_coding","hgnc_id":"HGNC:17978","gene_name":"beta-1,3-galactosyltransferase 6","omim_gene":["615291"],"alias_name":["beta-1,3-galactosyltransferase-6"],"gene_symbol":"B3GALT6","hgnc_symbol":"B3GALT6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:1167629-1170421","ensembl_id":"ENSG00000176022"}},"GRch38":{"90":{"location":"1:1232265-1235041","ensembl_id":"ENSG00000176022"}}},"hgnc_date_symbol_changed":"2002-01-09"},"entity_type":"gene","entity_name":"B3GALT6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23664118","23664117"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075"],"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. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7881","gene_name":"notch 1","omim_gene":["190198"],"alias_name":null,"gene_symbol":"NOTCH1","hgnc_symbol":"NOTCH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139388896-139440314","ensembl_id":"ENSG00000148400"}},"GRch38":{"90":{"location":"9:136494444-136545862","ensembl_id":"ENSG00000148400"}}},"hgnc_date_symbol_changed":"1992-02-13"},"entity_type":"gene","entity_name":"NOTCH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26820064","25963545","16729972","16025100"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Aortic aneurysm"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["norrin"],"biotype":"protein_coding","hgnc_id":"HGNC:7678","gene_name":"NDP, norrin cystine knot growth factor","omim_gene":["300658"],"alias_name":null,"gene_symbol":"NDP","hgnc_symbol":"NDP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:43808022-43832750","ensembl_id":"ENSG00000124479"}},"GRch38":{"90":{"location":"X:43948776-43973504","ensembl_id":"ENSG00000124479"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NDP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23444378","8268931","17325173","27217716","29181528","31827910"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Norrie disease, MIM# 310600"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CSB","RAD26","ARMD5"],"biotype":"protein_coding","hgnc_id":"HGNC:3438","gene_name":"ERCC excision repair 6, chromatin remodeling factor","omim_gene":["609413"],"alias_name":["Cockayne syndrome B protein"],"gene_symbol":"ERCC6","hgnc_symbol":"ERCC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:50663414-50747584","ensembl_id":"ENSG00000225830"}},"GRch38":{"90":{"location":"10:49455368-49539538","ensembl_id":"ENSG00000225830"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"ERCC6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301516"],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CYB560","cybL"],"biotype":"protein_coding","hgnc_id":"HGNC:10682","gene_name":"succinate dehydrogenase complex subunit C","omim_gene":["602413"],"alias_name":["succinate dehydrogenase cytochrome b560 subunit","succinate dehydrgenase cytochrome b","large subunit of cytochrome b"],"gene_symbol":"SDHC","hgnc_symbol":"SDHC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161284047-161332984","ensembl_id":"ENSG00000143252"}},"GRch38":{"90":{"location":"1:161314257-161375340","ensembl_id":"ENSG00000143252"}}},"hgnc_date_symbol_changed":"1997-10-21"},"entity_type":"gene","entity_name":"SDHC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Gastrointestinal stromal tumor, MONDO:0011719","Hereditary pheochromocytoma-paraganglioma, MONDO:0017366","Pheochromocytoma/paraganglioma syndrome 3, MIM#605373"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4369,"hash_id":null,"name":"Gastrointestinal Stromal Tumour","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with gastrointestinal stromal tumour. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with gastrointestinal stromal tumour and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.0","version_created":"2024-10-09T13:50:01.896692+11:00","relevant_disorders":[],"stats":{"number_of_genes":8,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3437","gene_name":"ERCC excision repair 5, endonuclease","omim_gene":["133530"],"alias_name":["Cockayne syndrome"],"gene_symbol":"ERCC5","hgnc_symbol":"ERCC5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:103497194-103528345","ensembl_id":"ENSG00000134899"}},"GRch38":{"90":{"location":"13:102844844-102876001","ensembl_id":"ENSG00000134899"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ERCC5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30838033","24700531"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["xeroderma pigmentosum group G MONDO:0010216"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4457,"hash_id":null,"name":"Hereditary Pigmentary Disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum","status":"public","version":"1.5","version_created":"2026-01-02T16:51:24.217185+11:00","relevant_disorders":["Abnormality of skin pigmentation","HP:0001000"],"stats":{"number_of_genes":41,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["StAR","STARD1"],"biotype":"protein_coding","hgnc_id":"HGNC:11359","gene_name":"steroidogenic acute regulatory protein","omim_gene":["600617"],"alias_name":["StAR related lipid transfer (START) domain containing 1"],"gene_symbol":"STAR","hgnc_symbol":"STAR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:38001167-38008783","ensembl_id":"ENSG00000147465"}},"GRch38":{"90":{"location":"8:38143649-38151265","ensembl_id":"ENSG00000147465"}}},"hgnc_date_symbol_changed":"1996-04-24"},"entity_type":"gene","entity_name":"STAR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7892608","8634702"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Lipoid adrenal hyperplasia (MIM#201710)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4523,"hash_id":null,"name":"Adrenal insufficiency","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","description":"This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.","status":"public","version":"0.76","version_created":"2026-03-19T16:21:18.336273+11:00","relevant_disorders":[],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"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":["HPE5"],"biotype":"protein_coding","hgnc_id":"HGNC:12873","gene_name":"Zic family member 2","omim_gene":["603073"],"alias_name":["Zinc finger protein of the cerebellum 2"],"gene_symbol":"ZIC2","hgnc_symbol":"ZIC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:100634026-100639018","ensembl_id":"ENSG00000043355"}},"GRch38":{"90":{"location":"13:99981772-99986773","ensembl_id":"ENSG00000043355"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"str","entity_name":"ZIC2_HPE5_GCN","confidence_level":"3","penetrance":null,"publications":["11285244","33811808"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Holoprosencephaly 5 MIM#609637"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"GCN","chromosome":"13","grch37_coordinates":[100637703,100637747],"grch38_coordinates":[99985449,99985493],"normal_repeats":15,"pathogenic_repeats":25,"tags":["paediatric-onset"],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}}]}