{"count":36078,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=188","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=186","results":[{"gene_data":{"alias":["FLJ10752","MEM3","PARK17"],"biotype":"protein_coding","hgnc_id":"HGNC:13487","gene_name":"VPS35, retromer complex component","omim_gene":["601501"],"alias_name":null,"gene_symbol":"VPS35","hgnc_symbol":"VPS35","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:46690054-46723430","ensembl_id":"ENSG00000069329"}},"GRch38":{"90":{"location":"16:46656132-46689518","ensembl_id":"ENSG00000069329"}}},"hgnc_date_symbol_changed":"2001-06-25"},"entity_type":"gene","entity_name":"VPS35","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":["{Parkinson disease 17} MIM#614203","Cognitive decline"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":24,"hash_id":null,"name":"Early-onset Dementia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause frontotemporal dementia (FTD), Alzheimer's disease, other forms of dementia, and adult-onset cognitive decline. It is currently maintained by VCGS and RMH. The base panel (17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"1.58","version_created":"2026-03-31T16:43:37.497568+11:00","relevant_disorders":["Cognitive impairment","HP:0100543"],"stats":{"number_of_genes":96,"number_of_strs":6,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0650","FSHD2"],"biotype":"protein_coding","hgnc_id":"HGNC:29090","gene_name":"structural maintenance of chromosomes flexible hinge domain containing 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isolated and syndromic anophthalmia, microphthalmia and coloboma.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Anophthalmia or Microphthalmia' v1.31 and 'Ocular coloboma' v1.38 panels, with discrepancies reviewed and reciprocal feedback provided to Genomics England.","status":"public","version":"1.57","version_created":"2026-03-03T11:23:37.804849+11:00","relevant_disorders":["Anophthalmia","HP:0000528;Microphthalmia","HP:0000568;Coloboma","HP:0000589"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P31","Vma4","ATP6E2"],"biotype":"protein_coding","hgnc_id":"HGNC:857","gene_name":"ATPase H+ transporting V1 subunit E1","omim_gene":["108746"],"alias_name":null,"gene_symbol":"ATP6V1E1","hgnc_symbol":"ATP6V1E1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:18074902-18111584","ensembl_id":"ENSG00000131100"}},"GRch38":{"90":{"location":"22:17592136-17628818","ensembl_id":"ENSG00000131100"}}},"hgnc_date_symbol_changed":"2002-06-21"},"entity_type":"gene","entity_name":"ATP6V1E1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28065471","27023906"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cutis laxa, autosomal recessive, type IIC MIM#617402"],"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":["AC","PHP32","FLJ21558","ACDase"],"biotype":"protein_coding","hgnc_id":"HGNC:735","gene_name":"N-acylsphingosine amidohydrolase 1","omim_gene":["613468"],"alias_name":["acylsphingosine deacylase","acid ceramidase"],"gene_symbol":"ASAH1","hgnc_symbol":"ASAH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:17913934-17942494","ensembl_id":"ENSG00000104763"}},"GRch38":{"90":{"location":"8:18055992-18084998","ensembl_id":"ENSG00000104763"}}},"hgnc_date_symbol_changed":"2002-09-13"},"entity_type":"gene","entity_name":"ASAH1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["31022067"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Farber lipogranulomatosis, MIM#\t228000"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ10147","HIPPI","MHS4R2"],"biotype":"protein_coding","hgnc_id":"HGNC:17367","gene_name":"intraflagellar transport 57","omim_gene":["606621"],"alias_name":null,"gene_symbol":"IFT57","hgnc_symbol":"IFT57","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:107879659-107941417","ensembl_id":"ENSG00000114446"}},"GRch38":{"90":{"location":"3:108160812-108222570","ensembl_id":"ENSG00000114446"}}},"hgnc_date_symbol_changed":"2005-11-02"},"entity_type":"gene","entity_name":"IFT57","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID:40273360"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Bardet-Bield syndrome","ciliopathy - MONDO:0005308"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":53,"hash_id":null,"name":"Bardet Biedl syndrome","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nBardet Biedl syndrome is a multisystem ciliopathy characterised by a combination of obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities.\r\n\r\nMany ciliopathies present with overlapping features, please refer to the Ciliopathy panel if broader spectrum of conditions are being considered.","status":"public","version":"1.14","version_created":"2025-05-21T20:50:29.131780+10:00","relevant_disorders":[],"stats":{"number_of_genes":27,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12013","gene_name":"tropomyosin 4","omim_gene":["600317"],"alias_name":null,"gene_symbol":"TPM4","hgnc_symbol":"TPM4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:16177831-16213813","ensembl_id":"ENSG00000167460"}},"GRch38":{"90":{"location":"19:16067021-16103005","ensembl_id":"ENSG00000167460"}}},"hgnc_date_symbol_changed":"1991-07-18"},"entity_type":"gene","entity_name":"TPM4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28134622","31249973","21153663"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Bleeding disorder, platelet-type, 25, MIM# 620486"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":54,"hash_id":null,"name":"Bleeding and Platelet Disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with coagulation, platelet and blood vessel disorders that predispose to bleeding and to thrombosis.","status":"public","version":"1.77","version_created":"2026-04-08T12:32:35.286494+10:00","relevant_disorders":["Abnormal bleeding","HP:0001892;Abnormal thrombosis","HP:0001977"],"stats":{"number_of_genes":140,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FAC","FA3"],"biotype":"protein_coding","hgnc_id":"HGNC:3584","gene_name":"Fanconi anemia complementation group C","omim_gene":["613899"],"alias_name":null,"gene_symbol":"FANCC","hgnc_symbol":"FANCC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:97861336-98079991","ensembl_id":"ENSG00000158169"}},"GRch38":{"90":{"location":"9:95099054-95426796","ensembl_id":"ENSG00000158169"}}},"hgnc_date_symbol_changed":"1992-11-25"},"entity_type":"gene","entity_name":"FANCC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31044565","30792206","28717661"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anemia, complementation group C, MIM# 227645","MONDO:0009213"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":56,"hash_id":null,"name":"Bone Marrow Failure","disease_group":"Haematological disorders","disease_sub_group":"","description":"Bone marrow failure (BMF) refers to the decreased production of one or more major haematopoietic lineages which leads to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.","status":"public","version":"1.144","version_created":"2026-04-25T18:31:01.039323+10:00","relevant_disorders":["Abnormality of multiple cell lineages of the bone marrow","HP:0012145"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["cSVP","CD156B"],"biotype":"protein_coding","hgnc_id":"HGNC:195","gene_name":"ADAM metallopeptidase domain 17","omim_gene":["603639"],"alias_name":null,"gene_symbol":"ADAM17","hgnc_symbol":"ADAM17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:9628615-9695921","ensembl_id":"ENSG00000151694"}},"GRch38":{"90":{"location":"2:9488486-9555792","ensembl_id":"ENSG00000151694"}}},"hgnc_date_symbol_changed":"1997-04-10"},"entity_type":"gene","entity_name":"ADAM17","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22010916","25804906","21041656","22236242"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Inflammatory skin and bowel disease"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GroEL","HSP60"],"biotype":"protein_coding","hgnc_id":"HGNC:5261","gene_name":"heat shock protein family D (Hsp60) member 1","omim_gene":["118190"],"alias_name":null,"gene_symbol":"HSPD1","hgnc_symbol":"HSPD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:198351305-198381461","ensembl_id":"ENSG00000144381"}},"GRch38":{"90":{"location":"2:197486581-197516737","ensembl_id":"ENSG00000144381"}}},"hgnc_date_symbol_changed":"1991-07-19"},"entity_type":"gene","entity_name":"HSPD1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Leukodystrophy, hypomyelinating, 4, MIM#612233"],"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":["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":"","publications":["25048963"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 42 (MIM#618695)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":82,"hash_id":null,"name":"Ciliary Dyskinesia","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.77","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":["p300","KAT3B"],"biotype":"protein_coding","hgnc_id":"HGNC:3373","gene_name":"E1A binding protein p300","omim_gene":["602700"],"alias_name":["histone acetyltransferase p300"],"gene_symbol":"EP300","hgnc_symbol":"EP300","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:41487790-41576081","ensembl_id":"ENSG00000100393"}},"GRch38":{"90":{"location":"22:41091786-41180079","ensembl_id":"ENSG00000100393"}}},"hgnc_date_symbol_changed":"1998-07-31"},"entity_type":"gene","entity_name":"EP300","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Rubinstein-Taybi syndrome 2, MIM# 613684"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":105,"hash_id":null,"name":"Glaucoma congenital","disease_group":"Ophthalmological 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 'Glaucoma (developmental)' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England, 7/8/2020.","status":"public","version":"1.12","version_created":"2026-04-07T13:50:17.268940+10:00","relevant_disorders":["Glaucoma","HP:0000501"],"stats":{"number_of_genes":28,"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":["CORDX1"],"biotype":"protein_coding","hgnc_id":"HGNC:10295","gene_name":"retinitis pigmentosa GTPase regulator","omim_gene":["312610"],"alias_name":null,"gene_symbol":"RPGR","hgnc_symbol":"RPGR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:38128416-38186817","ensembl_id":"ENSG00000156313"}},"GRch38":{"90":{"location":"X:38269163-38327564","ensembl_id":"ENSG00000156313"}}},"hgnc_date_symbol_changed":"1999-04-29"},"entity_type":"gene","entity_name":"RPGR","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["26093275","31775781"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Retinitis pigmentosa 3 (MIM#300029)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":108,"hash_id":null,"name":"Heterotaxy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Laterality disorders and isomerism' panel V1.19, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.45","version_created":"2026-03-17T16:09:39.911604+11:00","relevant_disorders":["Heterotaxy","HP:0030853; Dextrocardia","HP:0001651; Asplenia","HP:0001746; Abnormal spatial orientation of cardiac segments","HP:0011534; Polysplenia","HP:0001748;Midline liver","HP:0034188"],"stats":{"number_of_genes":67,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LGMD2I","MDC1C"],"biotype":"protein_coding","hgnc_id":"HGNC:17997","gene_name":"fukutin related protein","omim_gene":["606596"],"alias_name":null,"gene_symbol":"FKRP","hgnc_symbol":"FKRP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:47249303-47280245","ensembl_id":"ENSG00000181027"}},"GRch38":{"90":{"location":"19:46746046-46776988","ensembl_id":"ENSG00000181027"}}},"hgnc_date_symbol_changed":"2003-12-04"},"entity_type":"gene","entity_name":"FKRP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":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":["MTBT1","tau","PPND","FTDP-17","TAU","MSTD","MTBT2","FLJ31424","MGC138549","PPP1R103"],"biotype":"protein_coding","hgnc_id":"HGNC:6893","gene_name":"microtubule associated protein tau","omim_gene":["157140"],"alias_name":["G protein beta1/gamma2 subunit-interacting factor 1","microtubule-associated protein tau, isoform 4","protein phosphatase 1, regulatory subunit 103"],"gene_symbol":"MAPT","hgnc_symbol":"MAPT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:43971748-44105700","ensembl_id":"ENSG00000186868"}},"GRch38":{"90":{"location":"17:45894382-46028334","ensembl_id":"ENSG00000186868"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MAPT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20838030","11220749"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Supranuclear palsy, progressive (MIM# 601104) AD","Supranuclear palsy, progressive atypical (MIM# 260540) AR"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["adult onset neurodegenerative"],"panel":{"id":126,"hash_id":null,"name":"Incidentalome","disease_group":"","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC22014","hCG_40738"],"biotype":"protein_coding","hgnc_id":"HGNC:28313","gene_name":"tet methylcytosine dioxygenase 3","omim_gene":["613555"],"alias_name":null,"gene_symbol":"TET3","hgnc_symbol":"TET3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74229840-74335303","ensembl_id":"ENSG00000187605"}},"GRch38":{"90":{"location":"2:73986404-74108176","ensembl_id":"ENSG00000187605"}}},"hgnc_date_symbol_changed":"2008-03-12"},"entity_type":"gene","entity_name":"TET3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31928709"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Beck-Fahrner syndrome MIM#618798"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","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":["JTK7","c-ABL","p150"],"biotype":"protein_coding","hgnc_id":"HGNC:76","gene_name":"ABL proto-oncogene 1, non-receptor tyrosine kinase","omim_gene":["189980"],"alias_name":null,"gene_symbol":"ABL1","hgnc_symbol":"ABL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:133589333-133763062","ensembl_id":"ENSG00000097007"}},"GRch38":{"90":{"location":"9:130713946-130887675","ensembl_id":"ENSG00000097007"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ABL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["PMID: 28288113","30855488","32643838","39155385","38743093"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital heart defects and skeletal malformations syndrome MIM#617602","Human ABL1 Deficiency Syndrome (HADS)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","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":null},{"gene_data":{"alias":["KIAA0294","Gef10"],"biotype":"protein_coding","hgnc_id":"HGNC:14103","gene_name":"Rho guanine nucleotide exchange factor 10","omim_gene":["608136"],"alias_name":null,"gene_symbol":"ARHGEF10","hgnc_symbol":"ARHGEF10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:1772142-1906807","ensembl_id":"ENSG00000104728"}},"GRch38":{"90":{"location":"8:1823976-1958641","ensembl_id":"ENSG00000104728"}}},"hgnc_date_symbol_changed":"2000-12-01"},"entity_type":"gene","entity_name":"ARHGEF10","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"Other","publications":["14508709","21719701","25025039","29456827","25275565"],"evidence":["Expert Review Amber","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["Slowed nerve conduction velocity, MIM# 608236"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:18810","gene_name":"cation channel sperm associated 2","omim_gene":["607249"],"alias_name":null,"gene_symbol":"CATSPER2","hgnc_symbol":"CATSPER2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:43920701-43960316","ensembl_id":"ENSG00000166762"}},"GRch38":{"90":{"location":"15:43628503-43668118","ensembl_id":"ENSG00000166762"}}},"hgnc_date_symbol_changed":"2002-06-20"},"entity_type":"gene","entity_name":"CATSPER2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["17098888","30629171","12825070"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["spermatogenic failure","non-syndromic hearing loss"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["SV/CNV"],"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":null},{"gene_data":{"alias":["FLJ20561","HsT18960","nclf"],"biotype":"protein_coding","hgnc_id":"HGNC:2077","gene_name":"CLN6, transmembrane ER protein","omim_gene":["606725"],"alias_name":null,"gene_symbol":"CLN6","hgnc_symbol":"CLN6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:68499330-68549549","ensembl_id":"ENSG00000128973"}},"GRch38":{"90":{"location":"15:68206992-68257211","ensembl_id":"ENSG00000128973"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"CLN6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11791207","11727201","21549341","30561534"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 6, MIM# 601780","Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300"],"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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2153","gene_name":"cyclic nucleotide gated channel beta 3","omim_gene":["605080"],"alias_name":null,"gene_symbol":"CNGB3","hgnc_symbol":"CNGB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:87566205-87755903","ensembl_id":"ENSG00000170289"}},"GRch38":{"90":{"location":"8:86553977-86743675","ensembl_id":"ENSG00000170289"}}},"hgnc_date_symbol_changed":"2000-07-12"},"entity_type":"gene","entity_name":"CNGB3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17265047"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Achromatopsia 3, MIM# 262300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9491","gene_name":"protease, serine 8","omim_gene":["600823"],"alias_name":["prostasin"],"gene_symbol":"PRSS8","hgnc_symbol":"PRSS8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:31142756-31147083","ensembl_id":"ENSG00000052344"}},"GRch38":{"90":{"location":"16:31131433-31135762","ensembl_id":"ENSG00000052344"}}},"hgnc_date_symbol_changed":"1995-10-17"},"entity_type":"gene","entity_name":"PRSS8","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["36715754"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["ichthyosis MONDO:0019269, PRSS8-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","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":null},{"gene_data":{"alias":["RPML5","MRP-L5","MGC104174","PRED66","PRED22","C21orf92","L39mt","MSTP003","MGC3400","FLJ20451"],"biotype":"protein_coding","hgnc_id":"HGNC:14027","gene_name":"mitochondrial ribosomal protein L39","omim_gene":["611845"],"alias_name":null,"gene_symbol":"MRPL39","hgnc_symbol":"MRPL39","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:26957968-26979829","ensembl_id":"ENSG00000154719"}},"GRch38":{"90":{"location":"21:25585656-25607517","ensembl_id":"ENSG00000154719"}}},"hgnc_date_symbol_changed":"2001-02-28"},"entity_type":"gene","entity_name":"MRPL39","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37133451"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Combined oxidative phosphorylation deficiency-59 (COXPD59), MIM#620646"],"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":null},{"gene_data":{"alias":["U1A","U1-A","Mud1"],"biotype":"protein_coding","hgnc_id":"HGNC:11151","gene_name":"small nuclear ribonucleoprotein polypeptide A","omim_gene":["182285"],"alias_name":null,"gene_symbol":"SNRPA","hgnc_symbol":"SNRPA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:41256542-41271294","ensembl_id":"ENSG00000077312"}},"GRch38":{"90":{"location":"19:40750637-40765389","ensembl_id":"ENSG00000077312"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"SNRPA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["29437235"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["complex neurodevelopmental disorder, SNRPA-related\tMONDO:0100038"],"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":null},{"gene_data":{"alias":["CAPS1","MGC126562"],"biotype":"protein_coding","hgnc_id":"HGNC:1487","gene_name":"calcyphosine","omim_gene":["114212"],"alias_name":["calcyphosine 1","thyroid protein p24"],"gene_symbol":"CAPS","hgnc_symbol":"CAPS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:5911718-5915888","ensembl_id":"ENSG00000105519"}},"GRch38":{"90":{"location":"19:5911707-5915877","ensembl_id":"ENSG00000105519"}}},"hgnc_date_symbol_changed":"1990-05-31"},"entity_type":"gene","entity_name":"CAPS","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["30339840"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Recurrent pregnancy loss, susceptibility to, MONDO:0000144, CAPS-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","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:2935","gene_name":"doublesex and mab-3 related transcription factor 2","omim_gene":["604935"],"alias_name":["terra-like protein"],"gene_symbol":"DMRT2","hgnc_symbol":"DMRT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:1050354-1057552","ensembl_id":"ENSG00000173253"}},"GRch38":{"90":{"location":"9:1049858-1057552","ensembl_id":"ENSG00000173253"}}},"hgnc_date_symbol_changed":"1999-07-09"},"entity_type":"gene","entity_name":"DMRT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 41014130","29681102","16387292"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523"],"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":["KIAA0545"],"biotype":"protein_coding","hgnc_id":"HGNC:23801","gene_name":"signal induced proliferation associated 1 like 3","omim_gene":["616655"],"alias_name":null,"gene_symbol":"SIPA1L3","hgnc_symbol":"SIPA1L3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:38397868-38699012","ensembl_id":"ENSG00000105738"}},"GRch38":{"90":{"location":"19:37907228-38208372","ensembl_id":"ENSG00000105738"}}},"hgnc_date_symbol_changed":"2003-12-11"},"entity_type":"gene","entity_name":"SIPA1L3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["28951961","27993984","25804400"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Cataract 45 MIM#616851"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","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":["SUV3"],"biotype":"protein_coding","hgnc_id":"HGNC:11471","gene_name":"Suv3 like RNA helicase","omim_gene":["605122"],"alias_name":null,"gene_symbol":"SUPV3L1","hgnc_symbol":"SUPV3L1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:70939988-70968855","ensembl_id":"ENSG00000156502"}},"GRch38":{"90":{"location":"10:69180232-69209099","ensembl_id":"ENSG00000156502"}}},"hgnc_date_symbol_changed":"1998-02-20"},"entity_type":"gene","entity_name":"SUPV3L1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["39596606","35023579"],"evidence":["Expert Review Amber","Literature","Literature"],"phenotypes":["Mitochondrial disease, MONDO:0044970"],"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":["FLJ20128"],"biotype":"protein_coding","hgnc_id":"HGNC:14347","gene_name":"BCAS3, microtubule associated cell migration factor","omim_gene":["607470"],"alias_name":["Rudhira"],"gene_symbol":"BCAS3","hgnc_symbol":"BCAS3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:58754814-59470199","ensembl_id":"ENSG00000141376"}},"GRch38":{"90":{"location":"17:60677453-61392838","ensembl_id":"ENSG00000141376"}}},"hgnc_date_symbol_changed":"2001-01-09"},"entity_type":"gene","entity_name":"BCAS3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34022130"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hengel-Maroofian-Schols syndrome, MIM# 619641"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LGMD2I","MDC1C"],"biotype":"protein_coding","hgnc_id":"HGNC:17997","gene_name":"fukutin related protein","omim_gene":["606596"],"alias_name":null,"gene_symbol":"FKRP","hgnc_symbol":"FKRP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:47249303-47280245","ensembl_id":"ENSG00000181027"}},"GRch38":{"90":{"location":"19:46746046-46776988","ensembl_id":"ENSG00000181027"}}},"hgnc_date_symbol_changed":"2003-12-04"},"entity_type":"gene","entity_name":"FKRP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11592034","11741828","14647208","19299310","19155270"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["myopathy caused by variation in FKRP MONDO:0700066"],"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":["SDR38C1"],"biotype":"protein_coding","hgnc_id":"HGNC:11257","gene_name":"sepiapterin reductase","omim_gene":["182125"],"alias_name":["short chain dehydrogenase/reductase family 38C, member 1","Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)"],"gene_symbol":"SPR","hgnc_symbol":"SPR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:73114489-73119287","ensembl_id":"ENSG00000116096"}},"GRch38":{"90":{"location":"2:72887360-72892158","ensembl_id":"ENSG00000116096"}}},"hgnc_date_symbol_changed":"1991-12-05"},"entity_type":"gene","entity_name":"SPR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22522443"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":145,"hash_id":null,"name":"Neurotransmitter Defects","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe panel contains genes associated with neurotransmitter disorders, a heterogeneous group of disorders involving defects in the metabolism of monoamines (dopamine, norepinephrine, epinephrine and serotonin), GABA and glycine. The clinical presentations were highly variable, and may include seizures, neurodevelopmental delay, movement disorders, gait abnormalities, hypotonia, autonomic features. Measurement of neurotransmitter metabolites in cerebral spinal fluid (CSF) may be helpful in delineating the metabolic defects.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Neurotransmitter disorders' panel V1.6 with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.8","version_created":"2026-01-09T20:59:22.980216+11:00","relevant_disorders":["Abnormal CSF metabolite concentration","HP:0025454"],"stats":{"number_of_genes":41,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSPC192","FLJ10595","FLJ21788","LARS1","LEUS","RNTLS"],"biotype":"protein_coding","hgnc_id":"HGNC:6512","gene_name":"leucyl-tRNA synthetase","omim_gene":["151350"],"alias_name":["leucine tRNA ligase 1, cytoplasmic"],"gene_symbol":"LARS","hgnc_symbol":"LARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:145492601-145562223","ensembl_id":"ENSG00000133706"}},"GRch38":{"90":{"location":"5:146113038-146182660","ensembl_id":"ENSG00000133706"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"LARS","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["32699352"],"evidence":["Expert Review Green","NHS GMS","Expert Review Green","Literature"],"phenotypes":["Infantile liver failure syndrome 1, MIM# 615438","Seizures","Intellectual disability","Encephalopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10586","gene_name":"sodium voltage-gated channel beta subunit 1","omim_gene":["600235"],"alias_name":null,"gene_symbol":"SCN1B","hgnc_symbol":"SCN1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:35521588-35531352","ensembl_id":"ENSG00000105711"}},"GRch38":{"90":{"location":"19:35030466-35040449","ensembl_id":"ENSG00000105711"}}},"hgnc_date_symbol_changed":"1990-05-14"},"entity_type":"gene","entity_name":"SCN1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19710327","28218389","23148524"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Developmental and epileptic encephalopathy (MONDO:0100062)","generalized epilepsy with febrile seizures plus (MONDO:0018214)"],"mode_of_inheritance":"BOTH monoallelic and 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":null},{"gene_data":{"alias":["GMAP","GAL-GMAP","GLNN"],"biotype":"protein_coding","hgnc_id":"HGNC:4114","gene_name":"galanin and GMAP prepropeptide","omim_gene":["137035"],"alias_name":["galanin-message-associated peptide"],"gene_symbol":"GAL","hgnc_symbol":"GAL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:68451247-68458643","ensembl_id":"ENSG00000069482"}},"GRch38":{"90":{"location":"11:68683779-68691175","ensembl_id":"ENSG00000069482"}}},"hgnc_date_symbol_changed":"1993-06-22"},"entity_type":"gene","entity_name":"GAL","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["25691535"],"evidence":["Literature","Literature"],"phenotypes":["familial temporal lobe epilepsy 8 MONDO:0014650"],"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":["BRN1","OTF8"],"biotype":"protein_coding","hgnc_id":"HGNC:9216","gene_name":"POU class 3 homeobox 3","omim_gene":["602480"],"alias_name":null,"gene_symbol":"POU3F3","hgnc_symbol":"POU3F3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:105471969-105476929","ensembl_id":"ENSG00000198914"}},"GRch38":{"90":{"location":"2:104855511-104858574","ensembl_id":"ENSG00000198914"}}},"hgnc_date_symbol_changed":"1995-03-17"},"entity_type":"gene","entity_name":"POU3F3","confidence_level":"2","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["31303265","33645921"],"evidence":["Expert Review Amber","Literature","Expert Review Green","Literature"],"phenotypes":["Snijders Blok-Fisher syndrome\tMIM#618604"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":null},{"gene_data":{"alias":["NEDF","CGI-149"],"biotype":"protein_coding","hgnc_id":"HGNC:29865","gene_name":"charged multivesicular body protein 3","omim_gene":["610052"],"alias_name":null,"gene_symbol":"CHMP3","hgnc_symbol":"CHMP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:86730554-86948245","ensembl_id":"ENSG00000115561"}},"GRch38":{"90":{"location":"2:86503431-86563479","ensembl_id":"ENSG00000115561"}}},"hgnc_date_symbol_changed":"2011-09-21"},"entity_type":"gene","entity_name":"CHMP3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 35710109"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TRNL2"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7491","gene_name":"mitochondrially encoded tRNA leucine 2 (CUN)","omim_gene":["590055"],"alias_name":null,"gene_symbol":"MT-TL2","hgnc_symbol":"MT-TL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:12266-12336","ensembl_id":"ENSG00000210191"}},"GRch38":{"90":{"location":"MT:12266-12336","ensembl_id":"ENSG00000210191"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["8923013","12398839","19718780","18977334","21819490","15649400","15591266","23847141","20022607","29052516"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TL2-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ARVC2","VTSIP"],"biotype":"protein_coding","hgnc_id":"HGNC:10484","gene_name":"ryanodine receptor 2","omim_gene":["180902"],"alias_name":null,"gene_symbol":"RYR2","hgnc_symbol":"RYR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:237205505-237997288","ensembl_id":"ENSG00000198626"}},"GRch38":{"90":{"location":"1:237042205-237833988","ensembl_id":"ENSG00000198626"}}},"hgnc_date_symbol_changed":"1989-12-07"},"entity_type":"gene","entity_name":"RYR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance"],"phenotypes":["Arrhythmogenic right ventricular dysplasia 2 , MIM#600996","Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:15631","gene_name":"toll like receptor 7","omim_gene":["300365"],"alias_name":null,"gene_symbol":"TLR7","hgnc_symbol":"TLR7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:12885202-12908499","ensembl_id":"ENSG00000196664"}},"GRch38":{"90":{"location":"X:12867083-12890380","ensembl_id":"ENSG00000196664"}}},"hgnc_date_symbol_changed":"2001-04-27"},"entity_type":"gene","entity_name":"TLR7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35477763"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Systemic lupus erythematosus 17, MIM#\t301080"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.43","version_created":"2026-04-06T13:01:39.255117+10:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":118,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ22690","IAN6"],"biotype":"protein_coding","hgnc_id":"HGNC:21918","gene_name":"GTPase, IMAP family member 6","omim_gene":["616960"],"alias_name":["immune-associated nucleotide-binding protein 6"],"gene_symbol":"GIMAP6","hgnc_symbol":"GIMAP6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:150322463-150329473","ensembl_id":"ENSG00000133561"}},"GRch38":{"90":{"location":"7:150625375-150632648","ensembl_id":"ENSG00000133561"}}},"hgnc_date_symbol_changed":"2004-10-29"},"entity_type":"gene","entity_name":"GIMAP6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 35551368","33328581"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Autoinflammatory syndrome MONDO:0019751, GIMAP6-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.43","version_created":"2026-04-06T13:01:39.255117+10:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":118,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CLN10"],"biotype":"protein_coding","hgnc_id":"HGNC:2529","gene_name":"cathepsin D","omim_gene":["116840"],"alias_name":["ceroid-lipofuscinosis, neuronal 10"],"gene_symbol":"CTSD","hgnc_symbol":"CTSD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:1773982-1785222","ensembl_id":"ENSG00000117984"}},"GRch38":{"90":{"location":"11:1752752-1764573","ensembl_id":"ENSG00000117984"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CTSD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genetic Health 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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":["FLJ40908"],"biotype":"protein_coding","hgnc_id":"HGNC:20842","gene_name":"forkhead box P4","omim_gene":["608924"],"alias_name":null,"gene_symbol":"FOXP4","hgnc_symbol":"FOXP4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:41514164-41570122","ensembl_id":"ENSG00000137166"}},"GRch38":{"90":{"location":"6:41546426-41602384","ensembl_id":"ENSG00000137166"}}},"hgnc_date_symbol_changed":"2003-05-28"},"entity_type":"gene","entity_name":"FOXP4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33110267","36301021"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO#0700092), FOXP4-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. 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Q8B","omim_gene":["615567"],"alias_name":null,"gene_symbol":"COQ8B","hgnc_symbol":"COQ8B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:41197434-41224112","ensembl_id":"ENSG00000123815"}},"GRch38":{"90":{"location":"19:40691529-40718207","ensembl_id":"ENSG00000123815"}}},"hgnc_date_symbol_changed":"2016-07-07"},"entity_type":"gene","entity_name":"COQ8B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39226897","25967120"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Retinitis pigmentosa MONDO:0019200"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":277,"hash_id":null,"name":"Retinitis pigmentosa","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting 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It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. 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imprinted","tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne 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It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.65","version_created":"2026-01-21T10:59:30.179226+11:00","relevant_disorders":["Limb-girdle muscular dystrophy","MONDO:0016971; Proximal muscle weakness","HP:0003701; Distal myopathy MONDO:0018949"],"stats":{"number_of_genes":102,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4699","gene_name":"glycogenin 1","omim_gene":["603942"],"alias_name":["glycogenin glucosyltransferase"],"gene_symbol":"GYG1","hgnc_symbol":"GYG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:148709128-148745419","ensembl_id":"ENSG00000163754"}},"GRch38":{"90":{"location":"3:148991341-149027668","ensembl_id":"ENSG00000163754"}}},"hgnc_date_symbol_changed":"2005-11-04"},"entity_type":"gene","entity_name":"GYG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25272951","26652229"],"evidence":["Expert Review Green","Expert Review Green","Expert list","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["?Glycogen storage disease XV 613507","Polyglucosan body myopathy 2 616199"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":null},{"gene_data":{"alias":["GDD1"],"biotype":"protein_coding","hgnc_id":"HGNC:27337","gene_name":"anoctamin 5","omim_gene":["608662"],"alias_name":null,"gene_symbol":"ANO5","hgnc_symbol":"ANO5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:22214722-22304903","ensembl_id":"ENSG00000171714"}},"GRch38":{"90":{"location":"11:22193176-22283357","ensembl_id":"ENSG00000171714"}}},"hgnc_date_symbol_changed":"2008-08-28"},"entity_type":"gene","entity_name":"ANO5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23193613"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Miyoshi muscular dystrophy 3 613319","Muscular dystrophy, limb-girdle, type 2L 611307"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":null},{"gene_data":{"alias":["DKFZP434P106","dJ965G21.2","BEM46L2","ABHD12A"],"biotype":"protein_coding","hgnc_id":"HGNC:15868","gene_name":"abhydrolase domain containing 12","omim_gene":["613599"],"alias_name":null,"gene_symbol":"ABHD12","hgnc_symbol":"ABHD12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:25275379-25371619","ensembl_id":"ENSG00000100997"}},"GRch38":{"90":{"location":"20:25294743-25390983","ensembl_id":"ENSG00000100997"}}},"hgnc_date_symbol_changed":"2006-03-10"},"entity_type":"gene","entity_name":"ABHD12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20797687","24697911"],"evidence":["Expert Review Green","Royal Melbourne Hospital","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857","Usher syndrome type 3"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3086,"hash_id":null,"name":"Usher Syndrome","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed by RMH, and is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Deafness_IsolatedAndComplex and Retinal Disorders panels if findings are not specific, and a wider differential is considered, including the possibility of dual diagnosis.","status":"public","version":"1.5","version_created":"2023-01-15T18:08:18.097118+11:00","relevant_disorders":["Usher syndrome","MONDO:0019501"],"stats":{"number_of_genes":20,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BSSL","MODY8"],"biotype":"protein_coding","hgnc_id":"HGNC:1848","gene_name":"carboxyl ester lipase","omim_gene":["114840"],"alias_name":["bile salt-stimulated lipase"],"gene_symbol":"CEL","hgnc_symbol":"CEL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:135937365-135947248","ensembl_id":"ENSG00000170835"}},"GRch38":{"90":{"location":"9:133061978-133071861","ensembl_id":"ENSG00000170835"}}},"hgnc_date_symbol_changed":"1990-12-19"},"entity_type":"gene","entity_name":"CEL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["24062244","21784842","19760265","18544793","17989309","16369531","29233499","27650499","33862081","37726640","38483348"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Diabetes and pancreatic exocrine dysfunction","Maturity-onset diabetes of the young, type VIII, 609812"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["technically challenging"],"panel":{"id":3093,"hash_id":null,"name":"Monogenic Diabetes","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).","status":"public","version":"0.224","version_created":"2026-04-06T18:03:06.439122+10:00","relevant_disorders":["Diabetes mellitus","HP:0000819"],"stats":{"number_of_genes":109,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:869","gene_name":"ATPase copper transporting alpha","omim_gene":["300011"],"alias_name":["copper pump 1","copper-transporting ATPase 1"],"gene_symbol":"ATP7A","hgnc_symbol":"ATP7A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:77166194-77305892","ensembl_id":"ENSG00000165240"}},"GRch38":{"90":{"location":"X:77910656-78050395","ensembl_id":"ENSG00000165240"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ATP7A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","GeneReviews","Expert list"],"phenotypes":["Occipital horn syndrome, MIM#304150","Menkes disease, MIM#309400"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3129,"hash_id":null,"name":"Cutis Laxa","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where cutis laxa is a prominent feature of the condition. This panel is maintained by RMH.","status":"public","version":"1.0","version_created":"2022-10-16T18:04:47.521878+11:00","relevant_disorders":["Cutis laxa HP:0000973"],"stats":{"number_of_genes":15,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HAP","NR1B2","RRB2"],"biotype":"protein_coding","hgnc_id":"HGNC:9865","gene_name":"retinoic acid receptor beta","omim_gene":["180220"],"alias_name":null,"gene_symbol":"RARB","hgnc_symbol":"RARB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:25215823-25639423","ensembl_id":"ENSG00000077092"}},"GRch38":{"90":{"location":"3:25174332-25597932","ensembl_id":"ENSG00000077092"}}},"hgnc_date_symbol_changed":"1989-05-16"},"entity_type":"gene","entity_name":"RARB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Microphthalmia, syndromic 12, 615524 (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":["CD212"],"biotype":"protein_coding","hgnc_id":"HGNC:5971","gene_name":"interleukin 12 receptor subunit beta 1","omim_gene":["601604"],"alias_name":null,"gene_symbol":"IL12RB1","hgnc_symbol":"IL12RB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:18169805-18209754","ensembl_id":"ENSG00000096996"}},"GRch38":{"90":{"location":"19:18058995-18098944","ensembl_id":"ENSG00000096996"}}},"hgnc_date_symbol_changed":"1995-09-14"},"entity_type":"gene","entity_name":"IL12RB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Immunodeficiency 30, 614891 (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":["CX43","ODD","ODOD","SDTY3"],"biotype":"protein_coding","hgnc_id":"HGNC:4274","gene_name":"gap junction protein alpha 1","omim_gene":["121014"],"alias_name":["oculodentodigital dysplasia (syndactyly type III)","connexin 43"],"gene_symbol":"GJA1","hgnc_symbol":"GJA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:121756838-121770873","ensembl_id":"ENSG00000152661"}},"GRch38":{"90":{"location":"6:121435692-121449727","ensembl_id":"ENSG00000152661"}}},"hgnc_date_symbol_changed":"1990-08-03"},"entity_type":"gene","entity_name":"GJA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hypoplastic left heart syndrome 1, 241550 (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":["BIG2"],"biotype":"protein_coding","hgnc_id":"HGNC:15853","gene_name":"ADP ribosylation factor guanine nucleotide exchange factor 2","omim_gene":["605371"],"alias_name":["Brefeldin A-inhibited guanine nucleotide-exchange protein 2"],"gene_symbol":"ARFGEF2","hgnc_symbol":"ARFGEF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:47538427-47653230","ensembl_id":"ENSG00000124198"}},"GRch38":{"90":{"location":"20:48921890-49036693","ensembl_id":"ENSG00000124198"}}},"hgnc_date_symbol_changed":"2001-06-21"},"entity_type":"gene","entity_name":"ARFGEF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Periventricular heterotopia with microcephaly, 608097 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC: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":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Reticular dysgenesis, 267500 (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":["TBE-1"],"biotype":"protein_coding","hgnc_id":"HGNC:7166","gene_name":"matrix metallopeptidase 2","omim_gene":["120360"],"alias_name":null,"gene_symbol":"MMP2","hgnc_symbol":"MMP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:55423612-55540603","ensembl_id":"ENSG00000087245"}},"GRch38":{"90":{"location":"16:55389700-55506691","ensembl_id":"ENSG00000087245"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"MMP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Multicentric osteolysis, nodulosis, and arthropathy, 259600 (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":["OSC"],"biotype":"protein_coding","hgnc_id":"HGNC:6708","gene_name":"lanosterol synthase","omim_gene":["600909"],"alias_name":["Oxidosqualene-lanosterol cyclase"],"gene_symbol":"LSS","hgnc_symbol":"LSS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:47608055-47648738","ensembl_id":"ENSG00000160285"}},"GRch38":{"90":{"location":"21:46188141-46228824","ensembl_id":"ENSG00000160285"}}},"hgnc_date_symbol_changed":"1998-05-07"},"entity_type":"gene","entity_name":"LSS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Literature","Literature","Expert Review Green","Literature"],"phenotypes":[],"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":["DBA","S19"],"biotype":"protein_coding","hgnc_id":"HGNC:10402","gene_name":"ribosomal protein S19","omim_gene":["603474"],"alias_name":["Diamond-Blackfan anemia"],"gene_symbol":"RPS19","hgnc_symbol":"RPS19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:42363988-42376994","ensembl_id":"ENSG00000105372"}},"GRch38":{"90":{"location":"19:41859918-41872926","ensembl_id":"ENSG00000105372"}}},"hgnc_date_symbol_changed":"1998-07-22"},"entity_type":"gene","entity_name":"RPS19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Diamond-Blackfan anemia"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:11067","gene_name":"solute carrier family 7 member 9","omim_gene":["604144"],"alias_name":null,"gene_symbol":"SLC7A9","hgnc_symbol":"SLC7A9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:33321415-33360672","ensembl_id":"ENSG00000021488"}},"GRch38":{"90":{"location":"19:32830509-32869766","ensembl_id":"ENSG00000021488"}}},"hgnc_date_symbol_changed":"1999-09-16"},"entity_type":"gene","entity_name":"SLC7A9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Cystinuria"],"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":["MADR1","JV4-1"],"biotype":"protein_coding","hgnc_id":"HGNC:6767","gene_name":"SMAD family member 1","omim_gene":["601595"],"alias_name":null,"gene_symbol":"SMAD1","hgnc_symbol":"SMAD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:146402346-146479231","ensembl_id":"ENSG00000170365"}},"GRch38":{"90":{"location":"4:145481194-145558079","ensembl_id":"ENSG00000170365"}}},"hgnc_date_symbol_changed":"2004-05-26"},"entity_type":"gene","entity_name":"SMAD1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Pulmonary arterial hypertension"],"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":["EFO2"],"biotype":"protein_coding","hgnc_id":"HGNC:27230","gene_name":"establishment of sister chromatid cohesion N-acetyltransferase 2","omim_gene":["609353"],"alias_name":null,"gene_symbol":"ESCO2","hgnc_symbol":"ESCO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:27629466-27670157","ensembl_id":"ENSG00000171320"}},"GRch38":{"90":{"location":"8:27771949-27812640","ensembl_id":"ENSG00000171320"}}},"hgnc_date_symbol_changed":"2005-01-04"},"entity_type":"gene","entity_name":"ESCO2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32977150"],"evidence":["Expert Review Green"],"phenotypes":["Juberg-Hayward syndrome, MIM# 216100","Roberts-SC phocomelia syndrome, MIM#268300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ22833","DKFZp667M1322","FLJ13624","MGC111163","SSB2","hSSB2","SOSS-B2"],"biotype":"protein_coding","hgnc_id":"HGNC:26232","gene_name":"nucleic acid binding protein 1","omim_gene":["612103"],"alias_name":["single-stranded DNA-binding protein 2","sensor of single-strand DNA complex subunit B2"],"gene_symbol":"NABP1","hgnc_symbol":"NABP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:192542794-192561385","ensembl_id":"ENSG00000173559"}},"GRch38":{"90":{"location":"2:191678068-191696659","ensembl_id":"ENSG00000173559"}}},"hgnc_date_symbol_changed":"2012-06-19"},"entity_type":"gene","entity_name":"NABP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NSW Health Pathology","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3437,"hash_id":null,"name":"Incidentalome_PREGEN_DRAFT","disease_group":"","disease_sub_group":"","description":"Imported to facilitate update work. Do not use while labeled as DRAFT","status":"public","version":"0.43","version_created":"2021-01-20T16:42:09.286633+11:00","relevant_disorders":[],"stats":{"number_of_genes":173,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EGFL6L","POEM"],"biotype":"protein_coding","hgnc_id":"HGNC:27405","gene_name":"nephronectin","omim_gene":["610306"],"alias_name":null,"gene_symbol":"NPNT","hgnc_symbol":"NPNT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:106815932-106925184","ensembl_id":"ENSG00000168743"}},"GRch38":{"90":{"location":"4:105894775-106004027","ensembl_id":"ENSG00000168743"}}},"hgnc_date_symbol_changed":"2005-10-07"},"entity_type":"gene","entity_name":"NPNT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35246978","34049960","17537792"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Renal agenesis, MONDO:0018470, NPNT-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.567","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":[]},{"gene_data":{"alias":["POLE1"],"biotype":"protein_coding","hgnc_id":"HGNC:9177","gene_name":"DNA polymerase epsilon, catalytic subunit","omim_gene":["174762"],"alias_name":["DNA polymerase epsilon catalytic subunit A"],"gene_symbol":"POLE","hgnc_symbol":"POLE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:133200348-133263951","ensembl_id":"ENSG00000177084"}},"GRch38":{"90":{"location":"12:132623753-132687365","ensembl_id":"ENSG00000177084"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23230001","25948378","30503519"],"evidence":["Expert Review Green","Genomics England PanelApp","Literature"],"phenotypes":["IMAGE-I syndrome 618336"],"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":["MGC8685","DKFZp566F223","bA506K6.1"],"biotype":"protein_coding","hgnc_id":"HGNC:30829","gene_name":"tubulin beta 2B class IIb","omim_gene":["612850"],"alias_name":["class IIb beta-tubulin"],"gene_symbol":"TUBB2B","hgnc_symbol":"TUBB2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:3224495-3231964","ensembl_id":"ENSG00000137285"}},"GRch38":{"90":{"location":"6:3224261-3231730","ensembl_id":"ENSG00000137285"}}},"hgnc_date_symbol_changed":"2005-11-03"},"entity_type":"gene","entity_name":"TUBB2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19465910","22333901"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Cortical dysplasia, complex, with other brain malformations 7 MIM#610031"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["DXS707","TE2"],"biotype":"protein_coding","hgnc_id":"HGNC:18704","gene_name":"N(alpha)-acetyltransferase 10, NatA catalytic subunit","omim_gene":["300013"],"alias_name":null,"gene_symbol":"NAA10","hgnc_symbol":"NAA10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153194695-153200676","ensembl_id":"ENSG00000102030"}},"GRch38":{"90":{"location":"X:153929242-153935223","ensembl_id":"ENSG00000102030"}}},"hgnc_date_symbol_changed":"2010-01-14"},"entity_type":"gene","entity_name":"NAA10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26522270","34200686","37130971","30842225","24431331","34075687"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ogden syndrome (MIM#300855)","Syndromic microphthalmia 1 (MIM#309800)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["MPS1"],"biotype":"protein_coding","hgnc_id":"HGNC:5391","gene_name":"iduronidase, alpha-L-","omim_gene":["252800"],"alias_name":null,"gene_symbol":"IDUA","hgnc_symbol":"IDUA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:980785-998316","ensembl_id":"ENSG00000127415"}},"GRch38":{"90":{"location":"4:986997-1004506","ensembl_id":"ENSG00000127415"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"IDUA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014"],"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. 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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":["HSPC150","FANCT"],"biotype":"protein_coding","hgnc_id":"HGNC:25009","gene_name":"ubiquitin conjugating enzyme E2 T","omim_gene":["610538"],"alias_name":null,"gene_symbol":"UBE2T","hgnc_symbol":"UBE2T","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:202300785-202311108","ensembl_id":"ENSG00000077152"}},"GRch38":{"90":{"location":"1:202331657-202341980","ensembl_id":"ENSG00000077152"}}},"hgnc_date_symbol_changed":"2005-03-21"},"entity_type":"gene","entity_name":"UBE2T","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32646888","26119737","26046368","26085575"],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Fanconi anaemia, complementation group T, MIM# 616435"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":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":["24027798"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Porphyria, congenital erythropoietic MIM#263700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GluN2A"],"biotype":"protein_coding","hgnc_id":"HGNC:4585","gene_name":"glutamate ionotropic receptor NMDA type subunit 2A","omim_gene":["138253"],"alias_name":null,"gene_symbol":"GRIN2A","hgnc_symbol":"GRIN2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:9852376-10276611","ensembl_id":"ENSG00000183454"}},"GRch38":{"90":{"location":"16:9753404-10182754","ensembl_id":"ENSG00000183454"}}},"hgnc_date_symbol_changed":"1992-09-18"},"entity_type":"gene","entity_name":"GRIN2A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Epilepsy with neurodevelopmental defects"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ32915"],"biotype":"protein_coding","hgnc_id":"HGNC:26558","gene_name":"HYLS1, centriolar and ciliogenesis associated","omim_gene":["610693"],"alias_name":null,"gene_symbol":"HYLS1","hgnc_symbol":"HYLS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:125753509-125770543","ensembl_id":"ENSG00000198331"}},"GRch38":{"90":{"location":"11:125883614-125900648","ensembl_id":"ENSG00000198331"}}},"hgnc_date_symbol_changed":"2005-05-04"},"entity_type":"gene","entity_name":"HYLS1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Hydrolethalus syndrome"],"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":["SPH1"],"biotype":"protein_coding","hgnc_id":"HGNC:492","gene_name":"ankyrin 1","omim_gene":["612641"],"alias_name":null,"gene_symbol":"ANK1","hgnc_symbol":"ANK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:41510739-41754280","ensembl_id":"ENSG00000029534"}},"GRch38":{"90":{"location":"8:41653220-41896762","ensembl_id":"ENSG00000029534"}}},"hgnc_date_symbol_changed":"1989-06-06"},"entity_type":"gene","entity_name":"ANK1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Spherocytosis, type 1 MIM#182900"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Cav1.1","hypoPP"],"biotype":"protein_coding","hgnc_id":"HGNC:1397","gene_name":"calcium voltage-gated channel subunit alpha1 S","omim_gene":["114208"],"alias_name":null,"gene_symbol":"CACNA1S","hgnc_symbol":"CACNA1S","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:201008642-201081694","ensembl_id":"ENSG00000081248"}},"GRch38":{"90":{"location":"1:201039512-201112566","ensembl_id":"ENSG00000081248"}}},"hgnc_date_symbol_changed":"1992-03-27"},"entity_type":"gene","entity_name":"CACNA1S","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11591859","28012042"],"evidence":["Expert Review Green","KidGen_AldoHypertension v38.1.0"],"phenotypes":["Hypokalemic periodic paralysis, type 1, MIM# 170400"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CALDAG-GEFI"],"biotype":"protein_coding","hgnc_id":"HGNC:9879","gene_name":"RAS guanyl releasing protein 2","omim_gene":["605577"],"alias_name":["calcium- and diacylglycerol-regulated guanine nucleotide exchange factor I"],"gene_symbol":"RASGRP2","hgnc_symbol":"RASGRP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:64494383-64512928","ensembl_id":"ENSG00000068831"}},"GRch38":{"90":{"location":"11:64726911-64745456","ensembl_id":"ENSG00000068831"}}},"hgnc_date_symbol_changed":"1999-07-21"},"entity_type":"gene","entity_name":"RASGRP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32041177","24958846","30849270","32609603","31724816"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Bleeding disorder, platelet-type, 18, MIM# 615888"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Cav1.2","CACH2","CACN2","TS","LQT8"],"biotype":"protein_coding","hgnc_id":"HGNC:1390","gene_name":"calcium voltage-gated channel subunit alpha1 C","omim_gene":["114205"],"alias_name":null,"gene_symbol":"CACNA1C","hgnc_symbol":"CACNA1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:2079952-2802108","ensembl_id":"ENSG00000151067"}},"GRch38":{"90":{"location":"12:1970786-2697950","ensembl_id":"ENSG00000151067"}}},"hgnc_date_symbol_changed":"1991-01-30"},"entity_type":"gene","entity_name":"CACNA1C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31983240"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Long QT syndrome 8, MIM# 618447","Timothy syndrome, MIM# 601005"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:186","gene_name":"adenosine deaminase","omim_gene":["608958"],"alias_name":null,"gene_symbol":"ADA","hgnc_symbol":"ADA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:43248163-43280874","ensembl_id":"ENSG00000196839"}},"GRch38":{"90":{"location":"20:44619522-44652233","ensembl_id":"ENSG00000196839"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ADA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301656","8673127"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Severe combined immunodeficiency due to ADA deficiency MIM#102700","Adenosine deaminase deficiency, partial MIM#102700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.1","version_created":"2026-04-24T17:01:18.976102+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CP24","P450-CC24"],"biotype":"protein_coding","hgnc_id":"HGNC:2602","gene_name":"cytochrome P450 family 24 subfamily A member 1","omim_gene":["126065"],"alias_name":null,"gene_symbol":"CYP24A1","hgnc_symbol":"CYP24A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:52769988-52790512","ensembl_id":"ENSG00000019186"}},"GRch38":{"90":{"location":"20:54153449-54173973","ensembl_id":"ENSG00000019186"}}},"hgnc_date_symbol_changed":"2003-02-28"},"entity_type":"gene","entity_name":"CYP24A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21675912, 22047572, 33516786, 33186763, 32866123, 32743688"],"evidence":["Expert Review Green"],"phenotypes":["Other disorders of vitamin metabolism","hypercalcemia, infantile, 1 MONDO:0020739"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4257,"hash_id":null,"name":"Vitamin metabolism disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"The gene panel contains genes that cause inborn errors of vitamin metabolism.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.7","version_created":"2024-09-18T09:35:00.495806+10:00","relevant_disorders":["Abnormality of vitamin metabolism","HP:0100508"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ25330","ODA7","CILD13","swt"],"biotype":"protein_coding","hgnc_id":"HGNC:30539","gene_name":"dynein axonemal assembly factor 1","omim_gene":["613190"],"alias_name":["outer row dynein assembly 7 homolog (Chlamydomonas)"],"gene_symbol":"DNAAF1","hgnc_symbol":"DNAAF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:84178865-84212373","ensembl_id":"ENSG00000154099"}},"GRch38":{"90":{"location":"16:84145287-84178767","ensembl_id":"ENSG00000154099"}}},"hgnc_date_symbol_changed":"2011-06-09"},"entity_type":"gene","entity_name":"DNAAF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["19944400","19944405","33174003"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Primary ciliary dyskinesia 13, #MIM 613193"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.148","version_created":"2026-04-21T17:36:51.081048+10:00","relevant_disorders":[],"stats":{"number_of_genes":266,"number_of_strs":0,"number_of_regions":1},"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":["PDZ-GEF1","RA-GEF","DKFZP586O1422","KIAA0313"],"biotype":"protein_coding","hgnc_id":"HGNC:16854","gene_name":"Rap guanine nucleotide exchange factor 2","omim_gene":["609530"],"alias_name":["Rap GEP"],"gene_symbol":"RAPGEF2","hgnc_symbol":"RAPGEF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:160025330-160281321","ensembl_id":"ENSG00000109756"}},"GRch38":{"90":{"location":"4:159104178-159360169","ensembl_id":"ENSG00000109756"}}},"hgnc_date_symbol_changed":"2004-03-01"},"entity_type":"str","entity_name":"RAPGEF2_FAME7_TTTCA","confidence_level":"2","penetrance":null,"publications":["29507423","30351492","33791773"],"evidence":["Literature","Expert Review Amber","Expert Review Amber","Literature"],"phenotypes":["Epilepsy, familial adult myoclonic, 7 MIM#618075"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"TTTCA","chromosome":"4","grch37_coordinates":[160263679,160263768],"grch38_coordinates":[159342527,159342616],"normal_repeats":0,"pathogenic_repeats":1,"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":[]}},{"gene_data":{"alias":["NOTCH2NLC"],"biotype":"gene with protein product","hgnc_id":"HGNC:53924","gene_name":"Notch 2 N-Terminal Like C","omim_gene":["618025"],"alias_name":["notch 2 N-terminal like C"],"gene_symbol":"NOTCH2NLC","hgnc_symbol":"NOTCH2NLC","hgnc_release":"2000-01-01","ensembl_genes":{"GRch37":{"82":{"location":"1:150077036-150158248","ensembl_id":"ENSG00000286219"}},"GRch38":{"90":{"location":"1:149390621-149471833","ensembl_id":"ENSG00000286219"}}},"hgnc_date_symbol_changed":"2000-01-01"},"entity_type":"str","entity_name":"NOTCH2NLC_NIID_GGC","confidence_level":"3","penetrance":null,"publications":["31178126","31332381","31819945","33887199","33943039","32250060","31332380","32852534","32989102","34333668"],"evidence":["Literature","Expert Review Green","Expert Review Green","Literature"],"phenotypes":["Neuronal intranuclear inclusion disease MIM#603472","Oculopharyngodistal myopathy 3 MIM#619473","Tremor, hereditary essential, 6 MIM#618866"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"GGC","chromosome":"1","grch37_coordinates":[145209324,145209344],"grch38_coordinates":[149390803,149390829],"normal_repeats":40,"pathogenic_repeats":60,"tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:13997","gene_name":"PR/SET domain 12","omim_gene":["616458"],"alias_name":["PR-domain containing protein 12","PR-domain zinc finger protein 12"],"gene_symbol":"PRDM12","hgnc_symbol":"PRDM12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:133539981-133558368","ensembl_id":"ENSG00000130711"}},"GRch38":{"90":{"location":"9:130664594-130682981","ensembl_id":"ENSG00000130711"}}},"hgnc_date_symbol_changed":"2000-11-28"},"entity_type":"str","entity_name":"PRDM12_HSAN8_GCC","confidence_level":"3","penetrance":null,"publications":["26005867"],"evidence":["Literature","Expert Review Green","Expert Review Green","Literature","Literature","Expert Review Green","Expert Review Green","Literature"],"phenotypes":["Neuropathy, hereditary sensory and autonomic, type VIII MIM#616488"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","repeated_sequence":"GCC","chromosome":"9","grch37_coordinates":[133556993,133557026],"grch38_coordinates":[130681606,130681639],"normal_repeats":14,"pathogenic_repeats":18,"tags":["paediatric-onset"],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]}}]}