{"count":36078,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=177","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=175","results":[{"gene_data":{"alias":["nudE","FLJ20101","NDE"],"biotype":"protein_coding","hgnc_id":"HGNC:17619","gene_name":"nudE neurodevelopment protein 1","omim_gene":["609449"],"alias_name":null,"gene_symbol":"NDE1","hgnc_symbol":"NDE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:15737124-15820210","ensembl_id":"ENSG00000072864"}},"GRch38":{"90":{"location":"16:15643267-15726353","ensembl_id":"ENSG00000072864"}}},"hgnc_date_symbol_changed":"2003-04-10"},"entity_type":"gene","entity_name":"NDE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30637988"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":["Microcephaly with lissencephaly and/or hydranencephaly, MONDO:0700116"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":15,"hash_id":null,"name":"Lissencephaly and Band Heterotopia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Brain Malformations flagship, and is maintained by VCGS. It is a consensus panel used by RMH.\r\n\r\nIt contains genes associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri, either occurring in isolation or as part of a more complex disorder. The spectrum of lissencephaly ranges from absent (agyria) or decreased (pachygyria) convolutions of the cortex to less severe malformation known as subcortical band heterotopia.\r\n\r\nPlease also consider the Cobblestone Malformations panel and the broader Malformations of cortical development superpanel if features are not entirely typical.","status":"public","version":"1.30","version_created":"2026-01-19T11:50:01.984105+11:00","relevant_disorders":["Lissencephaly HP:0001339;Subcortical band heterotopia HP:0032409"],"stats":{"number_of_genes":46,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12410","gene_name":"tubulin alpha 8","omim_gene":["605742"],"alias_name":null,"gene_symbol":"TUBA8","hgnc_symbol":"TUBA8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:18593097-18629321","ensembl_id":"ENSG00000183785"}},"GRch38":{"90":{"location":"22:18110331-18146554","ensembl_id":"ENSG00000183785"}}},"hgnc_date_symbol_changed":"1999-10-29"},"entity_type":"gene","entity_name":"TUBA8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["19896110","31481326","28388629"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":["Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["disputed"],"panel":{"id":21,"hash_id":null,"name":"Tubulinopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nTubulinopathies refer to a wide spectrum of cortical malformations that result from defects in genes encoding the tubulin protein that regulates neuronal migration during brain development.\r\n\r\nBrain malformations include:\r\n-A range of lissencephalies (classic lissencephaly, lissencephaly with cerebellar hypoplasia, lissencephaly with agenesis of the corpus callosum, and centrally predominant pachygyria),\r\n-Polymicrogyria-like cortical dysplasia,\r\n-Simplified gyral pattern, and\r\n-Microlissencephaly often in combination with dysplastic basal ganglia, corpus callosum abnormalities, and hypoplasia or dysplasia of the brain stem and cerebellum.\r\n\r\nClinical features include motor and intellectual disabilities, epilepsy, and ocular findings of varying severity.\r\n\r\nWhere imaging and clinical features are less specific, consider applying the Malformations of Cortical Development superpanel.","status":"public","version":"1.2","version_created":"2024-09-11T12:06:06.122951+10:00","relevant_disorders":["Abnormal cortical gyration","HP:0002536"],"stats":{"number_of_genes":9,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FZD11"],"biotype":"protein_coding","hgnc_id":"HGNC:11119","gene_name":"smoothened, frizzled class receptor","omim_gene":["601500"],"alias_name":["frizzled family member 11"],"gene_symbol":"SMO","hgnc_symbol":"SMO","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:128828713-128853386","ensembl_id":"ENSG00000128602"}},"GRch38":{"90":{"location":"7:129188872-129213545","ensembl_id":"ENSG00000128602"}}},"hgnc_date_symbol_changed":"2003-01-17"},"entity_type":"gene","entity_name":"SMO","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Curry-Jones syndrome, somatic mosaic, MIM#601707"],"mode_of_inheritance":"Other","tags":["somatic"],"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":[]},{"gene_data":{"alias":["FLJ32769","FLJ16363"],"biotype":"protein_coding","hgnc_id":"HGNC:17109","gene_name":"ADAM metallopeptidase with thrombospondin type 1 motif 17","omim_gene":["607511"],"alias_name":null,"gene_symbol":"ADAMTS17","hgnc_symbol":"ADAMTS17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:100511794-100882210","ensembl_id":"ENSG00000140470"}},"GRch38":{"90":{"location":"15:99971589-100342005","ensembl_id":"ENSG00000140470"}}},"hgnc_date_symbol_changed":"2002-02-13"},"entity_type":"gene","entity_name":"ADAMTS17","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["19836009","20301293"],"evidence":["Expert Review Green","Other"],"phenotypes":["Weill-Marchesani 4 syndrome, recessive MIM#613195"],"mode_of_inheritance":"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":["FLJ20731","FKBP22"],"biotype":"protein_coding","hgnc_id":"HGNC:18625","gene_name":"FK506 binding protein 14","omim_gene":["614505"],"alias_name":null,"gene_symbol":"FKBP14","hgnc_symbol":"FKBP14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:30050203-30066300","ensembl_id":"ENSG00000106080"}},"GRch38":{"90":{"location":"7:30010587-30026684","ensembl_id":"ENSG00000106080"}}},"hgnc_date_symbol_changed":"2002-06-05"},"entity_type":"gene","entity_name":"FKBP14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["22265013","28306229","24773188","27149304"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MIM#614557"],"mode_of_inheritance":"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":["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":null,"publications":["34540776","30185102","25131622","24026681"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Salt and pepper developmental regression syndrome MIM#609056"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ36006","bA373N18.2","FLJ22944"],"biotype":"protein_coding","hgnc_id":"HGNC:26684","gene_name":"cilia and flagella associated protein 43","omim_gene":["617558"],"alias_name":null,"gene_symbol":"CFAP43","hgnc_symbol":"CFAP43","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:105889646-105992120","ensembl_id":"ENSG00000197748"}},"GRch38":{"90":{"location":"10:104129888-104232362","ensembl_id":"ENSG00000197748"}}},"hgnc_date_symbol_changed":"2014-07-18"},"entity_type":"gene","entity_name":"CFAP43","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31884020","28552195","31004071","29449551"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["Hydrocephalus, normal pressure, 1\t236690","Spermatogenic failure 19\t617592"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":["disputed"],"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":"1.77","version_created":"2026-04-23T20:31:13.525757+10:00","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":["APRF"],"biotype":"protein_coding","hgnc_id":"HGNC:11364","gene_name":"signal transducer and activator of transcription 3","omim_gene":["102582"],"alias_name":null,"gene_symbol":"STAT3","hgnc_symbol":"STAT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40465342-40540586","ensembl_id":"ENSG00000168610"}},"GRch38":{"90":{"location":"17:42313324-42388568","ensembl_id":"ENSG00000168610"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"STAT3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["20159255"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Hyper-IgE recurrent infection syndrome, MIM#\t147060"],"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":["MCI","IDAS"],"biotype":"protein_coding","hgnc_id":"HGNC:40050","gene_name":"multiciliate differentiation and DNA synthesis associated cell cycle protein","omim_gene":["614086"],"alias_name":["multicilin"],"gene_symbol":"MCIDAS","hgnc_symbol":"MCIDAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:54515442-54523143","ensembl_id":"ENSG00000234602"}},"GRch38":{"90":{"location":"5:55219614-55227315","ensembl_id":"ENSG00000234602"}}},"hgnc_date_symbol_changed":"2013-02-28"},"entity_type":"gene","entity_name":"MCIDAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32802948","30237576"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hydrocephalus","Arachnoid cyst","Choroid plexus hyperplasia","Ciliary dyskinesia, primary, 42 - #618695"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":115,"hash_id":null,"name":"Hydrocephalus_Ventriculomegaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.","status":"public","version":"0.134","version_created":"2026-01-28T12:49:29.963583+11:00","relevant_disorders":["Hydrocephalus","HP:0000238; Ventriculomegaly","HP:0002119"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CSBP","TUNP"],"biotype":"protein_coding","hgnc_id":"HGNC:5044","gene_name":"heterogeneous nuclear ribonucleoprotein K","omim_gene":["600712"],"alias_name":["transformation upregulated nuclear protein"],"gene_symbol":"HNRNPK","hgnc_symbol":"HNRNPK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:86582998-86595569","ensembl_id":"ENSG00000165119"}},"GRch38":{"90":{"location":"9:83968083-83980616","ensembl_id":"ENSG00000165119"}}},"hgnc_date_symbol_changed":"2008-04-18"},"entity_type":"gene","entity_name":"HNRNPK","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Other"],"phenotypes":["Au-Kline syndrome, MIM#\t616580"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RNF53","BRCC1","PPP1R53","FANCS"],"biotype":"protein_coding","hgnc_id":"HGNC:1100","gene_name":"BRCA1, DNA repair associated","omim_gene":["113705"],"alias_name":["BRCA1/BRCA2-containing complex, subunit 1","protein phosphatase 1, regulatory subunit 53","Fanconi anemia, complementation group S"],"gene_symbol":"BRCA1","hgnc_symbol":"BRCA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:41196312-41277500","ensembl_id":"ENSG00000012048"}},"GRch38":{"90":{"location":"17:43044295-43170245","ensembl_id":"ENSG00000012048"}}},"hgnc_date_symbol_changed":"1991-02-20"},"entity_type":"gene","entity_name":"BRCA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance","Victorian Clinical Genetics Services"],"phenotypes":["Breast-ovarian cancer, familial, 1, MIM# 604370"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":126,"hash_id":null,"name":"Incidentalome","disease_group":"","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11877","gene_name":"transmembrane protease, serine 3","omim_gene":["605511"],"alias_name":null,"gene_symbol":"TMPRSS3","hgnc_symbol":"TMPRSS3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:43791999-43816955","ensembl_id":"ENSG00000160183"}},"GRch38":{"90":{"location":"21:42371890-42396846","ensembl_id":"ENSG00000160183"}}},"hgnc_date_symbol_changed":"2000-05-17"},"entity_type":"gene","entity_name":"TMPRSS3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21786053","17551081"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal recessive 8/10, MIM#601072"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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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":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"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":[]},{"gene_data":{"alias":["LOC283677","FLJ27520","FLJ36860","FLJ44083","CT147"],"biotype":"protein_coding","hgnc_id":"HGNC:25065","gene_name":"REC114 meiotic recombination protein","omim_gene":null,"alias_name":null,"gene_symbol":"REC114","hgnc_symbol":"REC114","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:73735499-73852355","ensembl_id":"ENSG00000183324"}},"GRch38":{"90":{"location":"15:73443158-73560014","ensembl_id":"ENSG00000183324"}}},"hgnc_date_symbol_changed":"2014-05-09"},"entity_type":"gene","entity_name":"REC114","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30388401","31704776"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Female infertility","Oocyte maturation defect 10, MIM# 619176"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"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":[]},{"gene_data":{"alias":["RNU12-1"],"biotype":null,"hgnc_id":"HGNC:19380","gene_name":"RNA, U12 small nuclear","omim_gene":null,"alias_name":["RNA, U12 small nuclear 1"],"gene_symbol":"RNU12","hgnc_symbol":"RNU12","hgnc_release":"2017-11-03","ensembl_genes":{},"hgnc_date_symbol_changed":"2009-11-04"},"entity_type":"gene","entity_name":"RNU12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34085356","27863452"],"evidence":["Expert Review Green","Literature"],"phenotypes":["CDAGS syndrome MIM#603116","Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["non-coding gene"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"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":[]},{"gene_data":{"alias":["KIAA0303"],"biotype":"protein_coding","hgnc_id":"HGNC:19037","gene_name":"microtubule associated serine/threonine kinase family member 4","omim_gene":null,"alias_name":null,"gene_symbol":"MAST4","hgnc_symbol":"MAST4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:65892176-66465423","ensembl_id":"ENSG00000069020"}},"GRch38":{"90":{"location":"5:66596361-67169595","ensembl_id":"ENSG00000069020"}}},"hgnc_date_symbol_changed":"2004-12-06"},"entity_type":"gene","entity_name":"MAST4","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["36910266","33057194"],"evidence":["Expert Review Green","Literature"],"phenotypes":["neurodevelopmental disorder MONDO:0700092, MAST4-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"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":[]},{"gene_data":{"alias":["EST90625"],"biotype":"protein_coding","hgnc_id":"HGNC:35","gene_name":"ATP binding cassette subfamily A member 5","omim_gene":["612503"],"alias_name":null,"gene_symbol":"ABCA5","hgnc_symbol":"ABCA5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:67240452-67323385","ensembl_id":"ENSG00000154265"}},"GRch38":{"90":{"location":"17:69244311-69327244","ensembl_id":"ENSG00000154265"}}},"hgnc_date_symbol_changed":"1999-10-26"},"entity_type":"gene","entity_name":"ABCA5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["24831815"],"evidence":["Literature"],"phenotypes":["gingival fibromatosis-hypertrichosis syndrome MONDO:0007610"],"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":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5007","gene_name":"3-hydroxy-3-methylglutaryl-CoA synthase 1","omim_gene":["142940"],"alias_name":["3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"],"gene_symbol":"HMGCS1","hgnc_symbol":"HMGCS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:43289497-43313614","ensembl_id":"ENSG00000112972"}},"GRch38":{"90":{"location":"5:43289395-43313512","ensembl_id":"ENSG00000112972"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HMGCS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39531736"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Congenital myopathy 28 with rigid spine, MIM# 621433"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SNURPORTIN-1","Snurportin1"],"biotype":"protein_coding","hgnc_id":"HGNC:14245","gene_name":"snurportin 1","omim_gene":["607902"],"alias_name":null,"gene_symbol":"SNUPN","hgnc_symbol":"SNUPN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:75890424-75918810","ensembl_id":"ENSG00000169371"}},"GRch38":{"90":{"location":"15:75598083-75626469","ensembl_id":"ENSG00000169371"}}},"hgnc_date_symbol_changed":"2006-07-14"},"entity_type":"gene","entity_name":"SNUPN","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["PMID: 38413582","PMID: 38366623"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EAP30","VPS22","Dot3"],"biotype":"protein_coding","hgnc_id":"HGNC:17028","gene_name":"SNF8, ESCRT-II complex subunit","omim_gene":["610904"],"alias_name":null,"gene_symbol":"SNF8","hgnc_symbol":"SNF8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:47006678-47022479","ensembl_id":"ENSG00000159210"}},"GRch38":{"90":{"location":"17:48929316-48945117","ensembl_id":"ENSG00000159210"}}},"hgnc_date_symbol_changed":"2005-08-02"},"entity_type":"gene","entity_name":"SNF8","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["38423010"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder plus optic atrophy, MIM# 620784"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":149,"hash_id":null,"name":"Optic Atrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH and contains genes associated with isolated and complex optic atrophy.","status":"public","version":"1.72","version_created":"2026-03-31T18:57:17.873049+11:00","relevant_disorders":["Optic atrophy","HP:0000648"],"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"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ40629","radmis"],"biotype":"protein_coding","hgnc_id":"HGNC:26877","gene_name":"cytoskeleton associated protein 2 like","omim_gene":["616174"],"alias_name":["radial fiber and mitotic spindle"],"gene_symbol":"CKAP2L","hgnc_symbol":"CKAP2L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:113493930-113522254","ensembl_id":"ENSG00000169607"}},"GRch38":{"90":{"location":"2:112736607-112764677","ensembl_id":"ENSG00000169607"}}},"hgnc_date_symbol_changed":"2006-03-24"},"entity_type":"gene","entity_name":"CKAP2L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":159,"hash_id":null,"name":"Polydactyly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes that cause syndromic and non-syndromic polydactyly.","status":"public","version":"0.303","version_created":"2026-04-23T20:20:44.540776+10:00","relevant_disorders":["Polydactyly","HP:0010442"],"stats":{"number_of_genes":141,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CNC1"],"biotype":"protein_coding","hgnc_id":"HGNC:9388","gene_name":"protein kinase cAMP-dependent type I regulatory subunit alpha","omim_gene":["188830"],"alias_name":["Carney complex type 1"],"gene_symbol":"PRKAR1A","hgnc_symbol":"PRKAR1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:66507921-66547460","ensembl_id":"ENSG00000108946"}},"GRch38":{"90":{"location":"17:68511780-68551319","ensembl_id":"ENSG00000108946"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"PRKAR1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21651393","22464250"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Acrodysostosis 1, with or without hormone resistance, MIM# 101800"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":161,"hash_id":null,"name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with pseudohypoparathyroidism, Albright Hereditary Osteodystrophy, and phenocopy disorders.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis' panel V1.5, with all discrepancies reviewed and resolved (August 2025).","status":"public","version":"0.33","version_created":"2025-08-26T20:19:58.071270+10:00","relevant_disorders":["Pseudohypoparathyroidism","HP:0000093"],"stats":{"number_of_genes":10,"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"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10300","FAP163"],"biotype":"protein_coding","hgnc_id":"HGNC:21862","gene_name":"WD repeat domain 60","omim_gene":["615462"],"alias_name":null,"gene_symbol":"WDR60","hgnc_symbol":"WDR60","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:158649269-158749438","ensembl_id":"ENSG00000126870"}},"GRch38":{"90":{"location":"7:158856578-158956747","ensembl_id":"ENSG00000126870"}}},"hgnc_date_symbol_changed":"2005-04-19"},"entity_type":"gene","entity_name":"WDR60","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23910462","29271569","26874042"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503","Retinitis pigmentosa"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":179,"hash_id":null,"name":"Skeletal Ciliopathies","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. \r\n\r\nThis panel contains genes associated with skeletal ciliopathies (including short rib polydactyly and jeune asphyxiating thoracic dystrophy).\r\n\r\nIt has been compared against the Genomics England PanelApp Skeletal Ciliopathy panel, with all differences resolved and reciprocal feedback provided to Genomics England, 24/05/2020.\r\n\r\nConsider applying the broader Skeletal Dysplasia panel if the clinical presentation is not entirely typical of a skeletal ciliopathy.","status":"public","version":"1.23","version_created":"2026-02-26T20:48:41.390236+11:00","relevant_disorders":["Short rib","HP:0000773; Polydactyly","HP:0010442; Bell-shaped thorax","HP:0001591"],"stats":{"number_of_genes":37,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0243","LAM","hamartin"],"biotype":"protein_coding","hgnc_id":"HGNC:12362","gene_name":"TSC complex subunit 1","omim_gene":["605284"],"alias_name":["hamartin"],"gene_symbol":"TSC1","hgnc_symbol":"TSC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:135766735-135820020","ensembl_id":"ENSG00000165699"}},"GRch38":{"90":{"location":"9:132891348-132944633","ensembl_id":"ENSG00000165699"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"TSC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32917966"],"evidence":["Expert Review Green","KidGen_Cystic v38.1.0"],"phenotypes":["Tuberous sclerosis-1, MIM#191100"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":194,"hash_id":null,"name":"Renal Macrocystic Disease","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel is developed was developed and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause macrocystic kidney disease. Many of the disorders also have a polycystic liver disease, either as the predominant phenotype or in association with primary kidney cysts.","status":"public","version":"1.0","version_created":"2026-03-24T16:17:17.075108+11:00","relevant_disorders":["Renal cyst","HP:0000107"],"stats":{"number_of_genes":31,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ADAR2","DRADA2","ADAR2g","DRABA2","RED1","hRED1","ADAR2a-L1","ADAR2a-L2","ADAR2a-L3","ADAR2a","ADAR2b","ADAR2c","ADAR2d"],"biotype":"protein_coding","hgnc_id":"HGNC:226","gene_name":"adenosine deaminase, RNA specific B1","omim_gene":["601218"],"alias_name":["RED1 homolog (rat)"],"gene_symbol":"ADARB1","hgnc_symbol":"ADARB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:46493768-46646478","ensembl_id":"ENSG00000197381"}},"GRch38":{"90":{"location":"21:45073853-45226560","ensembl_id":"ENSG00000197381"}}},"hgnc_date_symbol_changed":"1996-10-02"},"entity_type":"gene","entity_name":"ADARB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32220291","32719099"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862","Intellectual disability","microcephaly","seizures"],"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":"1.410","version_created":"2026-04-24T13:36:55.078812+10:00","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":["RZF"],"biotype":"protein_coding","hgnc_id":"HGNC:10057","gene_name":"ring finger protein 13","omim_gene":["609247"],"alias_name":null,"gene_symbol":"RNF13","hgnc_symbol":"RNF13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:149530495-149679926","ensembl_id":"ENSG00000082996"}},"GRch38":{"90":{"location":"3:149812708-149962139","ensembl_id":"ENSG00000082996"}}},"hgnc_date_symbol_changed":"1999-10-19"},"entity_type":"gene","entity_name":"RNF13","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["30595371"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Epileptic encephalopathy, early infantile, 73, MIM#\t618379"],"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":"1.410","version_created":"2026-04-24T13:36:55.078812+10:00","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":["BCL11A-XL","BCL11A-L","BCL11A-S","CTIP1","HBFQTL5","ZNF856"],"biotype":"protein_coding","hgnc_id":"HGNC:13221","gene_name":"B-cell CLL/lymphoma 11A","omim_gene":["606557"],"alias_name":null,"gene_symbol":"BCL11A","hgnc_symbol":"BCL11A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:60678302-60780702","ensembl_id":"ENSG00000119866"}},"GRch38":{"90":{"location":"2:60451167-60553567","ensembl_id":"ENSG00000119866"}}},"hgnc_date_symbol_changed":"2001-02-28"},"entity_type":"gene","entity_name":"BCL11A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["27453576","32903878"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["Dias-Logan syndrome, MIM#\t617101"],"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":"1.410","version_created":"2026-04-24T13:36:55.078812+10:00","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":["FLJ10709"],"biotype":"protein_coding","hgnc_id":"HGNC:25567","gene_name":"ATPase family, AAA domain containing 3A","omim_gene":["612316"],"alias_name":null,"gene_symbol":"ATAD3A","hgnc_symbol":"ATAD3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:1447531-1470067","ensembl_id":"ENSG00000197785"}},"GRch38":{"90":{"location":"1:1512151-1534687","ensembl_id":"ENSG00000197785"}}},"hgnc_date_symbol_changed":"2007-02-08"},"entity_type":"gene","entity_name":"ATAD3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["27640307","32004445","28549128"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Harel-Yoon syndrome, MIM# 617183","Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["SV/CNV"],"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. 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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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:362","gene_name":"adenylate kinase 2","omim_gene":["103020"],"alias_name":null,"gene_symbol":"AK2","hgnc_symbol":"AK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:33473585-33546597","ensembl_id":"ENSG00000004455"}},"GRch38":{"90":{"location":"1:33007940-33080996","ensembl_id":"ENSG00000004455"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"AK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19043417","19043416","33628209"],"evidence":["Victorian Clinical Genetics Services","Melbourne Genomics Health Alliance Immunology Flagship","Expert Review Green","Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Reticular dysgenesis MIM# 267500","MONDO:0009973","Combined immunodeficiency","neutropaenia","leukopaenia","lymphopaenia","agranulocytosis","deafness"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":235,"hash_id":null,"name":"Severe Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with severe combined immunodeficiency (SCID), including the following:\r\n- SCID with absent T present B cells\r\n- SCID with absent T absent B cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.30","version_created":"2026-03-02T10:27:29.970169+11:00","relevant_disorders":["Severe combined immunodeficiency","HP:0004430"],"stats":{"number_of_genes":28,"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":"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":["PRO2249","CNA43","DNA43"],"biotype":"protein_coding","hgnc_id":"HGNC:18043","gene_name":"minichromosome maintenance 10 replication initiation factor","omim_gene":["609357"],"alias_name":null,"gene_symbol":"MCM10","hgnc_symbol":"MCM10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:13203554-13253104","ensembl_id":"ENSG00000065328"}},"GRch38":{"90":{"location":"10:13161554-13211104","ensembl_id":"ENSG00000065328"}}},"hgnc_date_symbol_changed":"2002-01-22"},"entity_type":"gene","entity_name":"MCM10","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32865517","33712616"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313","Susceptibility to CMV"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":237,"hash_id":null,"name":"Susceptibility to Viral Infections","disease_group":"Immunological disorders","disease_sub_group":"","description":"This 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). 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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":"1.756","version_created":"2026-04-24T13:54:47.562690+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"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":["SNAP-29","CEDNIK"],"biotype":"protein_coding","hgnc_id":"HGNC:11133","gene_name":"synaptosome associated protein 29","omim_gene":["604202"],"alias_name":["soluble 29 kDa NSF attachment protein"],"gene_symbol":"SNAP29","hgnc_symbol":"SNAP29","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:21213271-21245506","ensembl_id":"ENSG00000099940"}},"GRch38":{"90":{"location":"22:20858983-20891218","ensembl_id":"ENSG00000099940"}}},"hgnc_date_symbol_changed":"1998-12-17"},"entity_type":"gene","entity_name":"SNAP29","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33977139","30793783","29051910"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)"],"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":"1.756","version_created":"2026-04-24T13:54:47.562690+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"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":["TUBL1","LCA15"],"biotype":"protein_coding","hgnc_id":"HGNC:12423","gene_name":"tubby like protein 1","omim_gene":["602280"],"alias_name":null,"gene_symbol":"TULP1","hgnc_symbol":"TULP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:35465651-35480715","ensembl_id":"ENSG00000112041"}},"GRch38":{"90":{"location":"6:35497874-35512938","ensembl_id":"ENSG00000112041"}}},"hgnc_date_symbol_changed":"1998-01-06"},"entity_type":"gene","entity_name":"TULP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review","Emory Genetics Laboratory","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal 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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":["XT-II","PXYLT2"],"biotype":"protein_coding","hgnc_id":"HGNC:15517","gene_name":"xylosyltransferase 2","omim_gene":["608125"],"alias_name":["protein xylosyltransferase 2"],"gene_symbol":"XYLT2","hgnc_symbol":"XYLT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:48423453-48440499","ensembl_id":"ENSG00000015532"}},"GRch38":{"90":{"location":"17:50346092-50363138","ensembl_id":"ENSG00000015532"}}},"hgnc_date_symbol_changed":"2001-04-06"},"entity_type":"gene","entity_name":"XYLT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26987875"],"evidence":["Expert Review Green","Expert Review Green","Expert list","NHS GMS","Victorian Clinical 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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":["SCDO3"],"biotype":"protein_coding","hgnc_id":"HGNC:6560","gene_name":"LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase","omim_gene":["602576"],"alias_name":null,"gene_symbol":"LFNG","hgnc_symbol":"LFNG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:2552163-2568811","ensembl_id":"ENSG00000106003"}},"GRch38":{"90":{"location":"7:2512529-2529177","ensembl_id":"ENSG00000106003"}}},"hgnc_date_symbol_changed":"1997-11-07"},"entity_type":"gene","entity_name":"LFNG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9690472","16385447","30531807","9690473"],"evidence":["Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen","NHS GMS","Expert list","Emory Genetics Laboratory","Victorian Clinical Genetics Services"],"phenotypes":["Spondylocostal dysostosis 3, autosomal recessive MIM#609813"],"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 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GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Gsh2"],"biotype":"protein_coding","hgnc_id":"HGNC:24959","gene_name":"GS homeobox 2","omim_gene":["616253"],"alias_name":null,"gene_symbol":"GSX2","hgnc_symbol":"GSX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:54965690-54968672","ensembl_id":"ENSG00000180613"}},"GRch38":{"90":{"location":"4:54099523-54102505","ensembl_id":"ENSG00000180613"}}},"hgnc_date_symbol_changed":"2007-07-26"},"entity_type":"gene","entity_name":"GSX2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["31412107"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Diencephalic-mesencephalic junction dysplasia syndrome 2\t618646","Intellectual disability","Dystonia","Spastic tetra paresis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and 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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":["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":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["20880070"],"evidence":["Expert Review Green","Expert Review Green","Expert list","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3084,"hash_id":null,"name":"Rhabdomyolysis and Metabolic Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nDepending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.46","version_created":"2026-03-31T19:05:14.301918+11:00","relevant_disorders":["Rhabdomyolysis","HP:0003201;Exercise intolerance","HP:0003546;Metabolic myopathy","MONDO:0020123"],"stats":{"number_of_genes":124,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["dJ852M4.2"],"biotype":"protein_coding","hgnc_id":"HGNC:16133","gene_name":"TBC1 domain family member 20","omim_gene":["611663"],"alias_name":null,"gene_symbol":"TBC1D20","hgnc_symbol":"TBC1D20","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:416124-443197","ensembl_id":"ENSG00000125875"}},"GRch38":{"90":{"location":"20:435480-462553","ensembl_id":"ENSG00000125875"}}},"hgnc_date_symbol_changed":"2005-01-05"},"entity_type":"gene","entity_name":"TBC1D20","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["24239381","32740904","32162791"],"evidence":["Expert list"],"phenotypes":["Warburg micro syndrome 4, MIM# 615663","Martsolf syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0986"],"biotype":"protein_coding","hgnc_id":"HGNC:1908","gene_name":"vacuolar protein sorting 13 homolog A","omim_gene":["605978"],"alias_name":["chorein"],"gene_symbol":"VPS13A","hgnc_symbol":"VPS13A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:79792269-80036457","ensembl_id":"ENSG00000197969"}},"GRch38":{"90":{"location":"9:77177353-77421541","ensembl_id":"ENSG00000197969"}}},"hgnc_date_symbol_changed":"2004-02-11"},"entity_type":"gene","entity_name":"VPS13A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Choreoacanthocytosis, 200150 (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":["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":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Al Kaissi syndrome, 617694 (3), Autosomal recessive"],"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":["HGPRT"],"biotype":"protein_coding","hgnc_id":"HGNC:5157","gene_name":"hypoxanthine phosphoribosyltransferase 1","omim_gene":["308000"],"alias_name":["Lesch-Nyhan syndrome"],"gene_symbol":"HPRT1","hgnc_symbol":"HPRT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:133594183-133654543","ensembl_id":"ENSG00000165704"}},"GRch38":{"90":{"location":"X:134460153-134520513","ensembl_id":"ENSG00000165704"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HPRT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Lesch-Nyhan syndrome, 300322 (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":["RPC8","KIAA1665"],"biotype":"protein_coding","hgnc_id":"HGNC:30349","gene_name":"RNA polymerase III subunit H","omim_gene":null,"alias_name":null,"gene_symbol":"POLR3H","hgnc_symbol":"POLR3H","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:41921808-41940610","ensembl_id":"ENSG00000100413"}},"GRch38":{"90":{"location":"22:41525804-41544606","ensembl_id":"ENSG00000100413"}}},"hgnc_date_symbol_changed":"2004-04-21"},"entity_type":"gene","entity_name":"POLR3H","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["34794894","30830215"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Primary ovarian insufficiency MONDO:0005387, POLR3H-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.414","version_created":"2026-04-13T17:24:24.650771+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PK2","BV8","MIT1","KAL4"],"biotype":"protein_coding","hgnc_id":"HGNC:18455","gene_name":"prokineticin 2","omim_gene":["607002"],"alias_name":["protein Bv8 homolog"],"gene_symbol":"PROK2","hgnc_symbol":"PROK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:71820807-71834357","ensembl_id":"ENSG00000163421"}},"GRch38":{"90":{"location":"3:71771656-71785206","ensembl_id":"ENSG00000163421"}}},"hgnc_date_symbol_changed":"2002-07-22"},"entity_type":"gene","entity_name":"PROK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18559922","17054399","17959774","18285834"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Hypogonadotropic hypogonadism 4 with or without anosmia (MIM#610628)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3236,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.226","version_created":"2026-04-23T15:35:12.037215+10:00","relevant_disorders":["Hypopituitarism","HP:0040075"],"stats":{"number_of_genes":128,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AIGF"],"biotype":"protein_coding","hgnc_id":"HGNC:3686","gene_name":"fibroblast growth factor 8","omim_gene":["600483"],"alias_name":["androgen-induced growth factor"],"gene_symbol":"FGF8","hgnc_symbol":"FGF8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:103529899-103535854","ensembl_id":"ENSG00000107831"}},"GRch38":{"90":{"location":"10:101770130-101780369","ensembl_id":"ENSG00000107831"}}},"hgnc_date_symbol_changed":"1995-08-15"},"entity_type":"gene","entity_name":"FGF8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22319038","21832120","20463092"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Hypogonadotropic hypogonadism 6 with or without anosmia (612702)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3236,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.226","version_created":"2026-04-23T15:35:12.037215+10:00","relevant_disorders":["Hypopituitarism","HP:0040075"],"stats":{"number_of_genes":128,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TEM8","FLJ21776","FLJ10601","ATR"],"biotype":"protein_coding","hgnc_id":"HGNC:21014","gene_name":"anthrax toxin receptor 1","omim_gene":["606410"],"alias_name":["anthrax toxin receptor","tumor endothelial marker 8 precursor"],"gene_symbol":"ANTXR1","hgnc_symbol":"ANTXR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:69240310-69476459","ensembl_id":"ENSG00000169604"}},"GRch38":{"90":{"location":"2:69013178-69249327","ensembl_id":"ENSG00000169604"}}},"hgnc_date_symbol_changed":"2003-08-27"},"entity_type":"gene","entity_name":"ANTXR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23602711","25045128","31425299","30575274","29436111","28870703"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["GAPO syndrome, MIM# 230740"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11776","gene_name":"TGFB induced factor homeobox 1","omim_gene":["602630"],"alias_name":null,"gene_symbol":"TGIF1","hgnc_symbol":"TGIF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:3411606-3458409","ensembl_id":"ENSG00000177426"}},"GRch38":{"90":{"location":"18:3411608-3459978","ensembl_id":"ENSG00000177426"}}},"hgnc_date_symbol_changed":"2007-01-30"},"entity_type":"gene","entity_name":"TGIF1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Holoprosencephaly-4"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["LGMD2N"],"biotype":"protein_coding","hgnc_id":"HGNC:19743","gene_name":"protein O-mannosyltransferase 2","omim_gene":["607439"],"alias_name":["Dolichyl-phosphate-mannose--protein mannosyltransferase"],"gene_symbol":"POMT2","hgnc_symbol":"POMT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:77741299-77787227","ensembl_id":"ENSG00000009830"}},"GRch38":{"90":{"location":"14:77274956-77320884","ensembl_id":"ENSG00000009830"}}},"hgnc_date_symbol_changed":"2003-01-17"},"entity_type":"gene","entity_name":"POMT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2"],"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":["MYO1C","HuncM-IC","MGC104638"],"biotype":"protein_coding","hgnc_id":"HGNC:7599","gene_name":"myosin IE","omim_gene":["601479"],"alias_name":["myosin-IC"],"gene_symbol":"MYO1E","hgnc_symbol":"MYO1E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:59427113-59665099","ensembl_id":"ENSG00000157483"}},"GRch38":{"90":{"location":"15:59132434-59372900","ensembl_id":"ENSG00000157483"}}},"hgnc_date_symbol_changed":"1996-04-04"},"entity_type":"gene","entity_name":"MYO1E","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Focal segmental glomerulosclerosis"],"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":["ABC16","SPGP","PFIC-2","PGY4"],"biotype":"protein_coding","hgnc_id":"HGNC:42","gene_name":"ATP binding cassette subfamily B member 11","omim_gene":["603201"],"alias_name":["ABC member 16, MDR/TAP subfamily"],"gene_symbol":"ABCB11","hgnc_symbol":"ABCB11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:169779448-169887832","ensembl_id":"ENSG00000073734"}},"GRch38":{"90":{"location":"2:168922938-169031322","ensembl_id":"ENSG00000073734"}}},"hgnc_date_symbol_changed":"1998-09-25"},"entity_type":"gene","entity_name":"ABCB11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["9806540"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cholestasis, progressive familial intrahepatic 2, MIM#\t601847"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3400,"hash_id":null,"name":"Liver Failure_Paediatric","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause liver failure in children.\r\n\r\nPlease also consider using the Cholestasis panel if clinically indicated.","status":"public","version":"1.33","version_created":"2026-01-08T17:48:33.703909+11:00","relevant_disorders":["Liver failure","HP:0001399"],"stats":{"number_of_genes":68,"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":["EFGM","GFM","EGF1"],"biotype":"protein_coding","hgnc_id":"HGNC:13780","gene_name":"G elongation factor mitochondrial 1","omim_gene":["606639"],"alias_name":null,"gene_symbol":"GFM1","hgnc_symbol":"GFM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:158362067-158410364","ensembl_id":"ENSG00000168827"}},"GRch38":{"90":{"location":"3:158644278-158692575","ensembl_id":"ENSG00000168827"}}},"hgnc_date_symbol_changed":"2004-11-25"},"entity_type":"gene","entity_name":"GFM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31680380","25852744","26937387"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Combined oxidative phosphorylation deficiency 1 MIM#609060"],"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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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:31399","gene_name":"solute carrier family 6 member 17","omim_gene":["610299"],"alias_name":null,"gene_symbol":"SLC6A17","hgnc_symbol":"SLC6A17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:110693108-110744824","ensembl_id":"ENSG00000197106"}},"GRch38":{"90":{"location":"1:110150486-110202202","ensembl_id":"ENSG00000197106"}}},"hgnc_date_symbol_changed":"2004-04-02"},"entity_type":"gene","entity_name":"SLC6A17","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Intellectual developmental disorder, autosomal recessive 48, MIM#\t616269"],"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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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":["KIAA0645","DEP.5"],"biotype":"protein_coding","hgnc_id":"HGNC:18423","gene_name":"DEP domain containing 5","omim_gene":["614191"],"alias_name":null,"gene_symbol":"DEPDC5","hgnc_symbol":"DEPDC5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:32149944-32303012","ensembl_id":"ENSG00000100150"}},"GRch38":{"90":{"location":"22:31753951-31907034","ensembl_id":"ENSG00000100150"}}},"hgnc_date_symbol_changed":"2004-05-05"},"entity_type":"gene","entity_name":"DEPDC5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23542697","23542701","24814846","24585383","26505888","27173016","31444548"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Epilepsy, familial focal, with variable foci 1 MIM#604364"],"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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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:753","gene_name":"asparagine synthetase (glutamine-hydrolyzing)","omim_gene":["108370"],"alias_name":null,"gene_symbol":"ASNS","hgnc_symbol":"ASNS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:97481430-97501854","ensembl_id":"ENSG00000070669"}},"GRch38":{"90":{"location":"7:97852118-97872542","ensembl_id":"ENSG00000070669"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ASNS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24139043"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Asparagine synthetase deficiency, MIM#615574"],"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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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":["FLJ12584","KIAA1868","ARM","KU-MEL-1"],"biotype":"protein_coding","hgnc_id":"HGNC:20730","gene_name":"armadillo repeat containing 9","omim_gene":["617612"],"alias_name":null,"gene_symbol":"ARMC9","hgnc_symbol":"ARMC9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:232063260-232239548","ensembl_id":"ENSG00000135931"}},"GRch38":{"90":{"location":"2:231198546-231374837","ensembl_id":"ENSG00000135931"}}},"hgnc_date_symbol_changed":"2005-10-04"},"entity_type":"gene","entity_name":"ARMC9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28625504"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Joubert syndrome 30, MIM# 617622"],"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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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":["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","Genomics England PanelApp","KidGen_CilioNephronop v38.1.0"],"phenotypes":["Bardet-Biedl syndrome 3, MIM# 600151"],"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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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":["DLDH"],"biotype":"protein_coding","hgnc_id":"HGNC:2898","gene_name":"dihydrolipoamide dehydrogenase","omim_gene":["238331"],"alias_name":["E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"],"gene_symbol":"DLD","hgnc_symbol":"DLD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:107531415-107572175","ensembl_id":"ENSG00000091140"}},"GRch38":{"90":{"location":"7:107890970-107931730","ensembl_id":"ENSG00000091140"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"DLD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["39040027"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Dihydrolipoamide dehydrogenase deficiency, 246900 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SHAPY","SCAN-1"],"biotype":"protein_coding","hgnc_id":"HGNC:19721","gene_name":"calcium activated nucleotidase 1","omim_gene":["613165"],"alias_name":["Soluble Ca-Activated Nucleotidase, isozyme 1"],"gene_symbol":"CANT1","hgnc_symbol":"CANT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:76987799-77005949","ensembl_id":"ENSG00000171302"}},"GRch38":{"90":{"location":"17:78991717-79009867","ensembl_id":"ENSG00000171302"}}},"hgnc_date_symbol_changed":"2004-10-15"},"entity_type":"gene","entity_name":"CANT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19853239","21037275","28742282"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Desbuquois dysplasia 1, MIM# 251450","Epiphyseal dysplasia, multiple, 7, MIM# 617719"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12592","gene_name":"uroporphyrinogen III synthase","omim_gene":["606938"],"alias_name":["congenital erythropoietic porphyria"],"gene_symbol":"UROS","hgnc_symbol":"UROS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:127477146-127511817","ensembl_id":"ENSG00000188690"}},"GRch38":{"90":{"location":"10:125784980-125823248","ensembl_id":"ENSG00000188690"}}},"hgnc_date_symbol_changed":"1991-09-13"},"entity_type":"gene","entity_name":"UROS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30685241","24027798","28334762","27512208","34187847","34828434","15065102"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Porphyria, congenital erythropoietic MIM#263700, cutaneous porphyria MONDO:0009902"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["dJ236A3.1"],"biotype":"protein_coding","hgnc_id":"HGNC:21062","gene_name":"phenylalanyl-tRNA synthetase 2, mitochondrial","omim_gene":["611592"],"alias_name":["phenylalanine tRNA ligase 2, mitochondrial"],"gene_symbol":"FARS2","hgnc_symbol":"FARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:5261277-5771813","ensembl_id":"ENSG00000145982"}},"GRch38":{"90":{"location":"6:5261044-5771580","ensembl_id":"ENSG00000145982"}}},"hgnc_date_symbol_changed":"2004-12-03"},"entity_type":"gene","entity_name":"FARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30869852"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Combined oxidative phosphorylation deficiency 14 (MIM#614946)","Spastic paraplegia 77 (MIM#617046)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1673","gene_name":"CD3d molecule","omim_gene":["186790"],"alias_name":null,"gene_symbol":"CD3D","hgnc_symbol":"CD3D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118209669-118213459","ensembl_id":"ENSG00000167286"}},"GRch38":{"90":{"location":"11:118338954-118342744","ensembl_id":"ENSG00000167286"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CD3D","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS","Expert list"],"phenotypes":["Immunodeficiency 19, MIM#\t615617"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["T-cap","TELE","telethonin","CMD1N"],"biotype":"protein_coding","hgnc_id":"HGNC:11610","gene_name":"titin-cap","omim_gene":["604488"],"alias_name":["19 kDa sarcomeric protein","teneurin C-terminal associated peptide"],"gene_symbol":"TCAP","hgnc_symbol":"TCAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:37820440-37822808","ensembl_id":"ENSG00000173991"}},"GRch38":{"90":{"location":"17:39664187-39666555","ensembl_id":"ENSG00000173991"}}},"hgnc_date_symbol_changed":"2000-02-16"},"entity_type":"gene","entity_name":"TCAP","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","BabySeq Category A gene","Expert Review Red"],"phenotypes":["Cardiomyopathy, dilated","Muscular dystrophy, limb-girdle, type 2G"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LOC338328","GPI-HBP1"],"biotype":null,"hgnc_id":"HGNC:24945","gene_name":"glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1","omim_gene":["612757"],"alias_name":["endothelial cell LPL transporter"],"gene_symbol":"GPIHBP1","hgnc_symbol":"GPIHBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:144295068-144299044","ensembl_id":"ENSG00000182851"}},"GRch38":{"90":{"location":"8:143213193-143217170","ensembl_id":"ENSG00000277494"}}},"hgnc_date_symbol_changed":"2008-02-07"},"entity_type":"gene","entity_name":"GPIHBP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31390500"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hyperlipoproteinemia, type 1D MIM#615947","familial chylomicronemia syndrome"],"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":[]},{"gene_data":{"alias":["PDP","PDH","PPM2A"],"biotype":"protein_coding","hgnc_id":"HGNC:9279","gene_name":"pyruvate dehyrogenase phosphatase catalytic subunit 1","omim_gene":["605993"],"alias_name":["protein phosphatase, Mg2+/Mn2+ dependent 2A"],"gene_symbol":"PDP1","hgnc_symbol":"PDP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:94870035-94938294","ensembl_id":"ENSG00000164951"}},"GRch38":{"90":{"location":"8:93857807-93926066","ensembl_id":"ENSG00000164951"}}},"hgnc_date_symbol_changed":"2009-06-12"},"entity_type":"gene","entity_name":"PDP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene"],"phenotypes":["Pyruvate dehydrogenase phosphatase deficiency, MIM# 608782"],"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":["ILRS","IARS1"],"biotype":"protein_coding","hgnc_id":"HGNC:5330","gene_name":"isoleucyl-tRNA synthetase","omim_gene":["600709"],"alias_name":["isoleucine tRNA ligase 1, cytoplasmic"],"gene_symbol":"IARS","hgnc_symbol":"IARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:94972489-95056038","ensembl_id":"ENSG00000196305"}},"GRch38":{"90":{"location":"9:92210207-92293756","ensembl_id":"ENSG00000196305"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"IARS","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["27426735","34194004"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093"],"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":[]},{"gene_data":{"alias":["VHL1"],"biotype":"protein_coding","hgnc_id":"HGNC:12687","gene_name":"von Hippel-Lindau tumor suppressor","omim_gene":["608537"],"alias_name":null,"gene_symbol":"VHL","hgnc_symbol":"VHL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:10182692-10193904","ensembl_id":"ENSG00000134086"}},"GRch38":{"90":{"location":"3:10141008-10152220","ensembl_id":"ENSG00000134086"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"VHL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301636","33945366","34613603","28620007"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["von Hippel-Lindau syndrome MIM#193300"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["cancer","treatable"],"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":["P138-TOX","P138(TOX)","THOX2","LNOX2"],"biotype":"protein_coding","hgnc_id":"HGNC:13273","gene_name":"dual oxidase 2","omim_gene":["606759"],"alias_name":["dual oxidase-like domains 2","nicotinamide adenine dinucleotide phosphate oxidase","flavoprotein NADPH oxidase","NADPH thyroid oxidase 2","NADH/NADPH thyroid oxidase p138-tox","NADPH oxidase/peroxidase DUOX2"],"gene_symbol":"DUOX2","hgnc_symbol":"DUOX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:45384848-45406542","ensembl_id":"ENSG00000140279"}},"GRch38":{"90":{"location":"15:45092650-45114344","ensembl_id":"ENSG00000140279"}}},"hgnc_date_symbol_changed":"2000-11-09"},"entity_type":"gene","entity_name":"DUOX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Thyroid dyshormonogenesis 6, MIM# 607200"],"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":["CTX","CP27"],"biotype":"protein_coding","hgnc_id":"HGNC:2605","gene_name":"cytochrome P450 family 27 subfamily A member 1","omim_gene":["606530"],"alias_name":["cerebrotendinous xanthomatosis"],"gene_symbol":"CYP27A1","hgnc_symbol":"CYP27A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:219646472-219680016","ensembl_id":"ENSG00000135929"}},"GRch38":{"90":{"location":"2:218781749-218815293","ensembl_id":"ENSG00000135929"}}},"hgnc_date_symbol_changed":"1991-08-22"},"entity_type":"gene","entity_name":"CYP27A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Cerebrotendinous xanthomatosis, MIM# 213700"],"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":["RNF163","ZCCHC22","CNBP1"],"biotype":"protein_coding","hgnc_id":"HGNC:13164","gene_name":"CCHC-type zinc finger nucleic acid binding protein","omim_gene":["116955"],"alias_name":null,"gene_symbol":"CNBP","hgnc_symbol":"CNBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:128888327-128902765","ensembl_id":"ENSG00000169714"}},"GRch38":{"90":{"location":"3:129169484-129183922","ensembl_id":"ENSG00000169714"}}},"hgnc_date_symbol_changed":"2006-06-29"},"entity_type":"str","entity_name":"CNBP_DM2_CCTG","confidence_level":"3","penetrance":null,"publications":["20301639","29325606"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Myotonic dystrophy 2 MIM#602668"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CCTG","chromosome":"3","grch37_coordinates":[128891420,128891499],"grch38_coordinates":[129172577,129172656],"normal_repeats":26,"pathogenic_repeats":75,"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":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"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":[]}}]}