{"count":36042,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=237","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=235","results":[{"gene_data":{"alias":["F3","GP135"],"biotype":"protein_coding","hgnc_id":"HGNC:2171","gene_name":"contactin 1","omim_gene":["600016"],"alias_name":["glycoprotein gP135"],"gene_symbol":"CNTN1","hgnc_symbol":"CNTN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:41086244-41466220","ensembl_id":"ENSG00000018236"}},"GRch38":{"90":{"location":"12:40692442-41072418","ensembl_id":"ENSG00000018236"}}},"hgnc_date_symbol_changed":"1994-02-18"},"entity_type":"gene","entity_name":"CNTN1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID:19026398"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Congenital myopathy 12, OMIM #612540"],"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). 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(CAKUT)","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel contains genes associated with nonsyndromic and syndromic congenital anomalies of the kidney and urinary tract (CAKUT).","status":"public","version":"0.207","version_created":"2026-04-15T16:43:07.852176+10:00","relevant_disorders":["Abnormality of the urinary system HP:0000079"],"stats":{"number_of_genes":124,"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":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["XT-II","PXYLT2"],"biotype":"protein_coding","hgnc_id":"HGNC:15517","gene_name":"xylosyltransferase 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'Congenital Disorders of Glycosylation' panel v2.4 with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.85","version_created":"2026-04-02T10:46:27.496905+11:00","relevant_disorders":["Abnormal transferrin saturation","HP:0040135"],"stats":{"number_of_genes":141,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BAF47","Ini1","Snr1","hSNFS","Sfh1p","RDT","PPP1R144"],"biotype":"protein_coding","hgnc_id":"HGNC:11103","gene_name":"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1","omim_gene":["601607"],"alias_name":["sucrose nonfermenting, yeast, homolog-like 1","integrase interactor 1","malignant 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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":[]},{"gene_data":{"alias":["UNC104"],"biotype":"protein_coding","hgnc_id":"HGNC:888","gene_name":"kinesin family member 1A","omim_gene":["601255"],"alias_name":null,"gene_symbol":"KIF1A","hgnc_symbol":"KIF1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:241653181-241759725","ensembl_id":"ENSG00000130294"}},"GRch38":{"90":{"location":"2:240713764-240820308","ensembl_id":"ENSG00000130294"}}},"hgnc_date_symbol_changed":"2004-01-14"},"entity_type":"gene","entity_name":"KIF1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31700678"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spastic paraplegia 30, autosomal dominant, MIM#\t610357"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC16372","FLJ32660","CILD21"],"biotype":"protein_coding","hgnc_id":"HGNC:24245","gene_name":"dynein regulatory complex subunit 1","omim_gene":["615288"],"alias_name":null,"gene_symbol":"DRC1","hgnc_symbol":"DRC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:26624784-26679579","ensembl_id":"ENSG00000157856"}},"GRch38":{"90":{"location":"2:26401916-26456711","ensembl_id":"ENSG00000157856"}}},"hgnc_date_symbol_changed":"2013-03-14"},"entity_type":"gene","entity_name":"DRC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31960620"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 21, MIM# 615294"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["SV/CNV"],"panel":{"id":82,"hash_id":null,"name":"Ciliary Dyskinesia","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.75","version_created":"2026-03-30T10:17:46.701193+11:00","relevant_disorders":["Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205"],"stats":{"number_of_genes":77,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC10744"],"biotype":"protein_coding","hgnc_id":"HGNC:28128","gene_name":"transmembrane protein 107","omim_gene":["616183"],"alias_name":null,"gene_symbol":"TMEM107","hgnc_symbol":"TMEM107","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:8076555-8079717","ensembl_id":"ENSG00000179029"}},"GRch38":{"90":{"location":"17:8173237-8176399","ensembl_id":"ENSG00000179029"}}},"hgnc_date_symbol_changed":"2005-12-19"},"entity_type":"gene","entity_name":"TMEM107","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26518474","26595381","26123494"],"evidence":["Expert Review Green","Expert Review","Victorian Clinical Genetics Services"],"phenotypes":["Meckel syndrome 13 (MIM#617562)","Orofaciodigital syndrome XVI (MIM#617563)","Joubert syndrome 29 617562"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":84,"hash_id":null,"name":"Ciliopathies","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10724","MART-2","MART2","Skn","ski","rasp","sit","GUP2"],"biotype":"protein_coding","hgnc_id":"HGNC:18270","gene_name":"hedgehog acyltransferase","omim_gene":["605743"],"alias_name":null,"gene_symbol":"HHAT","hgnc_symbol":"HHAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:210501596-210849638","ensembl_id":"ENSG00000054392"}},"GRch38":{"90":{"location":"1:210328252-210676296","ensembl_id":"ENSG00000054392"}}},"hgnc_date_symbol_changed":"2004-09-15"},"entity_type":"gene","entity_name":"HHAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 24784881","33749989","35045414"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Nivelon-Nivelon-Mabille syndrome, OMIM:600092"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":99,"hash_id":null,"name":"Differences of Sex Development","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.50","version_created":"2026-04-12T14:14:27.453739+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":142,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:164","gene_name":"actinin alpha 2","omim_gene":["102573"],"alias_name":null,"gene_symbol":"ACTN2","hgnc_symbol":"ACTN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:236849754-236927931","ensembl_id":"ENSG00000077522"}},"GRch38":{"90":{"location":"1:236686454-236764631","ensembl_id":"ENSG00000077522"}}},"hgnc_date_symbol_changed":"1991-07-16"},"entity_type":"gene","entity_name":"ACTN2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30681346"],"evidence":["Expert Review","Expert Review Green"],"phenotypes":["Cardiomyopathy, hypertrophic, 23, with or without LVNC, MIM#\t612158","ACTN2-related cardiac and skeletal myopathy, MONDO:0700349"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":111,"hash_id":null,"name":"Hypertrophic cardiomyopathy","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes associated with hypertrophic cardiomyopathy or isolated left ventricular hypertrophy (including sarcomere, sarcomere-associated and syndromic conditions), typically with onset in adolescence or adulthood. For early-onset hypertrophic cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel was developed by VCGS and is maintained by VCGS and RMH. It has been compared against the Genomics England 'Hypertrophic Cardiomyopathy  - teen and adult' panel and incorporates gene-disease validity assessments by the ClinGen HCM working group (PMID: 30681346), 5/8/2020 and Hereditary Cardiovascular Disorders Gene Curation Expert Panel (PMID: 39132495).","status":"public","version":"1.25","version_created":"2026-03-11T18:45:28.302854+11:00","relevant_disorders":["Hypertrophic cardiomyopathy","HP:0001639"],"stats":{"number_of_genes":64,"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":["SPL"],"biotype":"protein_coding","hgnc_id":"HGNC:10817","gene_name":"sphingosine-1-phosphate lyase 1","omim_gene":["603729"],"alias_name":null,"gene_symbol":"SGPL1","hgnc_symbol":"SGPL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:72575717-72640930","ensembl_id":"ENSG00000166224"}},"GRch38":{"90":{"location":"10:70815961-70881173","ensembl_id":"ENSG00000166224"}}},"hgnc_date_symbol_changed":"1999-02-03"},"entity_type":"gene","entity_name":"SGPL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28165343","33074640"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Sphingosine Phosphate Lyase Insufficiency Syndrome","RENI syndrome (MIM#617575)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1955","gene_name":"cholinergic receptor nicotinic alpha 1 subunit","omim_gene":["100690"],"alias_name":["acetylcholine receptor, nicotinic, alpha 1 (muscle)"],"gene_symbol":"CHRNA1","hgnc_symbol":"CHRNA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:175612320-175629200","ensembl_id":"ENSG00000138435"}},"GRch38":{"90":{"location":"2:174747592-174787935","ensembl_id":"ENSG00000138435"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"CHRNA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Multiple pterygium syndrome, lethal type, MIM# 253290"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. 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VCGS.","status":"public","version":"0.126","version_created":"2025-10-16T15:50:33.114198+11:00","relevant_disorders":["Gastrointestinal inflammation","HP:0004386"],"stats":{"number_of_genes":85,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CSIF","TGIF","IL10A","IL-10"],"biotype":"protein_coding","hgnc_id":"HGNC:5962","gene_name":"interleukin 10","omim_gene":["124092"],"alias_name":["cytokine synthesis inhibitory factor","T-cell growth inhibitory 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VCGS.","status":"public","version":"0.126","version_created":"2025-10-16T15:50:33.114198+11:00","relevant_disorders":["Gastrointestinal inflammation","HP:0004386"],"stats":{"number_of_genes":85,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["JBTS12"],"biotype":"protein_coding","hgnc_id":"HGNC:30497","gene_name":"kinesin family member 7","omim_gene":["611254"],"alias_name":null,"gene_symbol":"KIF7","hgnc_symbol":"KIF7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:90152020-90198682","ensembl_id":"ENSG00000166813"}},"GRch38":{"90":{"location":"15:89608789-89655451","ensembl_id":"ENSG00000166813"}}},"hgnc_date_symbol_changed":"2005-02-07"},"entity_type":"gene","entity_name":"KIF7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21552264","21633164","19666503","30445565","26648833","26349186","26174511","25714560"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 12, MIM# 200990","Acrocallosal syndrome, MIM# 200990","MONDO:0008708","Hydrolethalus syndrome 2, MIM# 614120"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":129,"hash_id":null,"name":"Joubert syndrome and other neurological ciliopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes associated with Joubert syndrome, Meckel Gruber syndrome and other ciliopathies where structural CNS abnormalities are prominent.\r\n\r\nPlease consider also applying the Cerebellar and Pontocerebellar Hypoplasia panel in the presence of more non-specific cerebellar abnormalities and applying the Ciliopathy panel in the presence of additional clinical features suggestive of a multi-system ciliopathy.","status":"public","version":"1.33","version_created":"2025-12-16T12:55:34.757878+11:00","relevant_disorders":["Molar tooth sign on MRI","HP:0002419; Joubert syndrome","MONDO:0018772"],"stats":{"number_of_genes":69,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6971","gene_name":"malate dehydrogenase 2","omim_gene":["154100"],"alias_name":null,"gene_symbol":"MDH2","hgnc_symbol":"MDH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:75677369-75696826","ensembl_id":"ENSG00000146701"}},"GRch38":{"90":{"location":"7:76048051-76067508","ensembl_id":"ENSG00000146701"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"MDH2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34766628","27989324"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Developmental and epileptic encephalopathy 51 MIM#617339"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:20202","gene_name":"calcium voltage-gated channel auxiliary subunit alpha2delta 4","omim_gene":["608171"],"alias_name":null,"gene_symbol":"CACNA2D4","hgnc_symbol":"CACNA2D4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:1901123-2028002","ensembl_id":"ENSG00000151062"}},"GRch38":{"90":{"location":"12:1791957-1918836","ensembl_id":"ENSG00000151062"}}},"hgnc_date_symbol_changed":"2003-01-06"},"entity_type":"gene","entity_name":"CACNA2D4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17033974","26560832","26560832","33927996","34996991"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Retinal cone dystrophy 4 MIM#610478"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EIEE2","CFAP247"],"biotype":"protein_coding","hgnc_id":"HGNC:11411","gene_name":"cyclin dependent kinase like 5","omim_gene":["300203"],"alias_name":null,"gene_symbol":"CDKL5","hgnc_symbol":"CDKL5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:18443703-18671749","ensembl_id":"ENSG00000008086"}},"GRch38":{"90":{"location":"X:18425583-18653629","ensembl_id":"ENSG00000008086"}}},"hgnc_date_symbol_changed":"2002-11-29"},"entity_type":"gene","entity_name":"CDKL5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27080038","30842224"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Epileptic encephalopathy, early infantile, 2, MIM 300672"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["IL-23R"],"biotype":"protein_coding","hgnc_id":"HGNC:19100","gene_name":"interleukin 23 receptor","omim_gene":["607562"],"alias_name":null,"gene_symbol":"IL23R","hgnc_symbol":"IL23R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:67632083-67725662","ensembl_id":"ENSG00000162594"}},"GRch38":{"90":{"location":"1:67138907-67259979","ensembl_id":"ENSG00000162594"}}},"hgnc_date_symbol_changed":"2004-10-18"},"entity_type":"gene","entity_name":"IL23R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30578351","35829840","36763636"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency disease, MONDO:0021094","Inherited susceptibility to mycobacterial disease, MONDO:0019146, IL23R-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":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Klk6"],"biotype":"protein_coding","hgnc_id":"HGNC:6357","gene_name":"kallikrein 1","omim_gene":["147910"],"alias_name":null,"gene_symbol":"KLK1","hgnc_symbol":"KLK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:51322404-51327043","ensembl_id":"ENSG00000167748"}},"GRch38":{"90":{"location":"19:50819148-50823787","ensembl_id":"ENSG00000167748"}}},"hgnc_date_symbol_changed":"1988-06-27"},"entity_type":"gene","entity_name":"KLK1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31727138","17573418"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["[Kallikrein, decreased urinary activity of] 615953","Pulmonary arterial hypertension MONDO:0015924"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CYPOR","FLJ26468"],"biotype":"protein_coding","hgnc_id":"HGNC:9208","gene_name":"cytochrome p450 oxidoreductase","omim_gene":["124015"],"alias_name":null,"gene_symbol":"POR","hgnc_symbol":"POR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:75528518-75616173","ensembl_id":"ENSG00000127948"}},"GRch38":{"90":{"location":"7:75899200-75986855","ensembl_id":"ENSG00000127948"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"POR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27068427"],"evidence":["Expert Review Green","Expert list","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750","Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["R51H3","Trad","HsTRAD"],"biotype":"protein_coding","hgnc_id":"HGNC:9823","gene_name":"RAD51 paralog D","omim_gene":["602954"],"alias_name":["recombination repair protein","DNA repair protein RAD51 homolog 4"],"gene_symbol":"RAD51D","hgnc_symbol":"RAD51D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:33426811-33448541","ensembl_id":"ENSG00000185379"}},"GRch38":{"90":{"location":"17:35092208-35121522","ensembl_id":"ENSG00000185379"}}},"hgnc_date_symbol_changed":"2011-07-01"},"entity_type":"gene","entity_name":"RAD51D","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["28646019","31937788","26057125"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{Breast-ovarian cancer, familial, susceptibility to, 4} 614291"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ZNF796"],"biotype":"protein_coding","hgnc_id":"HGNC:10527","gene_name":"spalt like transcription factor 3","omim_gene":["605079"],"alias_name":null,"gene_symbol":"SALL3","hgnc_symbol":"SALL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:76740275-76762677","ensembl_id":"ENSG00000256463"}},"GRch38":{"90":{"location":"18:78980275-79002677","ensembl_id":"ENSG00000256463"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"SALL3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":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":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSMU1B","mu2","AP1-mu2"],"biotype":"protein_coding","hgnc_id":"HGNC:558","gene_name":"adaptor related protein complex 1 mu 2 subunit","omim_gene":["607309"],"alias_name":null,"gene_symbol":"AP1M2","hgnc_symbol":"AP1M2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:10683347-10697991","ensembl_id":"ENSG00000129354"}},"GRch38":{"90":{"location":"19:10572671-10587315","ensembl_id":"ENSG00000129354"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP1M2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["41451456"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Inborn error of immunity, MONDO:0003778"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC35154"],"biotype":"protein_coding","hgnc_id":"HGNC:28563","gene_name":"testis expressed 44","omim_gene":null,"alias_name":null,"gene_symbol":"TEX44","hgnc_symbol":"TEX44","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:232457575-232458994","ensembl_id":"ENSG00000177673"}},"GRch38":{"90":{"location":"2:231592901-231594283","ensembl_id":"ENSG00000177673"}}},"hgnc_date_symbol_changed":"2016-11-03"},"entity_type":"gene","entity_name":"TEX44","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40849303"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spermatogenic failure, MONDO:0004983, TEX44-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":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ25410"],"biotype":"protein_coding","hgnc_id":"HGNC:26348","gene_name":"septin 12","omim_gene":["611562"],"alias_name":null,"gene_symbol":"SEPT12","hgnc_symbol":"SEPT12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:4827670-4838522","ensembl_id":"ENSG00000140623"}},"GRch38":{"90":{"location":"16:4777669-4788521","ensembl_id":"ENSG00000140623"}}},"hgnc_date_symbol_changed":"2006-11-13"},"entity_type":"gene","entity_name":"SEPT12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["22479503","22275165","35547809"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spermatogenic failure 10, MIM#614822"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1240"],"biotype":"protein_coding","hgnc_id":"HGNC:29230","gene_name":"ATPase family, AAA domain containing 2B","omim_gene":["615347"],"alias_name":null,"gene_symbol":"ATAD2B","hgnc_symbol":"ATAD2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:23971534-24149984","ensembl_id":"ENSG00000119778"}},"GRch38":{"90":{"location":"2:23748664-23927114","ensembl_id":"ENSG00000119778"}}},"hgnc_date_symbol_changed":"2007-02-08"},"entity_type":"gene","entity_name":"ATAD2B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["39313616"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["neurodevelopmental disorder MONDO:0700092, ATAD2B-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":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["IKKE","IKK-i","KIAA0151"],"biotype":null,"hgnc_id":"HGNC:14552","gene_name":"inhibitor of nuclear factor kappa B kinase subunit epsilon","omim_gene":["605048"],"alias_name":null,"gene_symbol":"IKBKE","hgnc_symbol":"IKBKE","hgnc_release":"2017-11-03","ensembl_genes":{},"hgnc_date_symbol_changed":"2002-12-02"},"entity_type":"gene","entity_name":"IKBKE","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["37937644"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11302","gene_name":"signal recognition particle 68","omim_gene":["604858"],"alias_name":null,"gene_symbol":"SRP68","hgnc_symbol":"SRP68","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:74035184-74068734","ensembl_id":"ENSG00000167881"}},"GRch38":{"90":{"location":"17:76038775-76072653","ensembl_id":"ENSG00000167881"}}},"hgnc_date_symbol_changed":"1991-12-05"},"entity_type":"gene","entity_name":"SRP68","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32273475"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Neutropenia, severe congenital, 10, autosomal recessive, MIM# 620534"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["eIF3-epsilon","eIF3-p47","eIF3f"],"biotype":"protein_coding","hgnc_id":"HGNC:3275","gene_name":"eukaryotic translation initiation factor 3 subunit F","omim_gene":["603914"],"alias_name":null,"gene_symbol":"EIF3F","hgnc_symbol":"EIF3F","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:7991798-8023409","ensembl_id":"ENSG00000175390"}},"GRch38":{"90":{"location":"11:7970251-8001862","ensembl_id":"ENSG00000175390"}}},"hgnc_date_symbol_changed":"2007-07-27"},"entity_type":"gene","entity_name":"EIF3F","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 33736665"],"evidence":["Expert Review Green","Literature"],"phenotypes":["EIF3F-related neurodevelopmental disorder","Mental retardation, autosomal recessive 67, MIM# 618295"],"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":[]},{"gene_data":{"alias":["MGC27034","TRM10"],"biotype":"protein_coding","hgnc_id":"HGNC:28403","gene_name":"tRNA methyltransferase 10A","omim_gene":["616013"],"alias_name":null,"gene_symbol":"TRMT10A","hgnc_symbol":"TRMT10A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:100467866-100485189","ensembl_id":"ENSG00000145331"}},"GRch38":{"90":{"location":"4:99546709-99564032","ensembl_id":"ENSG00000145331"}}},"hgnc_date_symbol_changed":"2012-06-28"},"entity_type":"gene","entity_name":"TRMT10A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24204302","25053765","33448213","33067246","26535115","26526202","26297882"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033","MONDO:0000208"],"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":["NEM7"],"biotype":"protein_coding","hgnc_id":"HGNC:1875","gene_name":"cofilin 2","omim_gene":["601443"],"alias_name":["nemaline myopathy type 7"],"gene_symbol":"CFL2","hgnc_symbol":"CFL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:35179593-35184029","ensembl_id":"ENSG00000165410"}},"GRch38":{"90":{"location":"14:34706769-34714823","ensembl_id":"ENSG00000165410"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"CFL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["17160903","22560515","32160286"],"evidence":["Expert Review Green","Other","Expert Review Green"],"phenotypes":["Nemaline myopathy 7 (MONDO:0012538","MIM#610687)"],"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":["BK125H2.1"],"biotype":"protein_coding","hgnc_id":"HGNC:18150","gene_name":"myosin XVIIIB","omim_gene":["607295"],"alias_name":null,"gene_symbol":"MYO18B","hgnc_symbol":"MYO18B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:26138111-26427007","ensembl_id":"ENSG00000133454"}},"GRch38":{"90":{"location":"22:25742144-26031041","ensembl_id":"ENSG00000133454"}}},"hgnc_date_symbol_changed":"2002-04-29"},"entity_type":"gene","entity_name":"MYO18B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25748484","27858739","32637634","32184166","27879346"],"evidence":["Expert Review Green","Expert list","Expert Review Green"],"phenotypes":["Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO:0014689"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PUM","MYOD","bHLHc1"],"biotype":"protein_coding","hgnc_id":"HGNC:7611","gene_name":"myogenic differentiation 1","omim_gene":["159970"],"alias_name":["myoblast determination protein 1"],"gene_symbol":"MYOD1","hgnc_symbol":"MYOD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:17741115-17743678","ensembl_id":"ENSG00000129152"}},"GRch38":{"90":{"location":"11:17719568-17722131","ensembl_id":"ENSG00000129152"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"MYOD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26733463","31260566","30403323"],"evidence":["Expert Review Green","Other","Expert Review Green","Expert list"],"phenotypes":["Congenital Myopathy 17 (MIM#618975)"],"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":["RAB39","RAH","NARR"],"biotype":"protein_coding","hgnc_id":"HGNC:16519","gene_name":"RAB34, member RAS oncogene family","omim_gene":["610917"],"alias_name":["nine-amino acid residue-repeats"],"gene_symbol":"RAB34","hgnc_symbol":"RAB34","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:27041299-27045447","ensembl_id":"ENSG00000109113"}},"GRch38":{"90":{"location":"17:28714281-28718429","ensembl_id":"ENSG00000109113"}}},"hgnc_date_symbol_changed":"2001-09-14"},"entity_type":"gene","entity_name":"RAB34","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37619988","PMID: 37384395"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Orofaciodigital syndrome 20, MIM#620718"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":179,"hash_id":null,"name":"Skeletal Ciliopathies","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. \r\n\r\nThis panel contains genes associated with skeletal ciliopathies (including short rib polydactyly and jeune asphyxiating thoracic dystrophy).\r\n\r\nIt has been compared against the Genomics England PanelApp Skeletal Ciliopathy panel, with all differences resolved and reciprocal feedback provided to Genomics England, 24/05/2020.\r\n\r\nConsider applying the broader Skeletal Dysplasia panel if the clinical presentation is not entirely typical of a skeletal ciliopathy.","status":"public","version":"1.23","version_created":"2026-02-26T20:48:41.390236+11:00","relevant_disorders":["Short rib","HP:0000773; Polydactyly","HP:0010442; Bell-shaped thorax","HP:0001591"],"stats":{"number_of_genes":37,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LBN"],"biotype":"protein_coding","hgnc_id":"HGNC:19747","gene_name":"EvC ciliary complex subunit 2","omim_gene":["607261"],"alias_name":["limbin"],"gene_symbol":"EVC2","hgnc_symbol":"EVC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:5544499-5711275","ensembl_id":"ENSG00000173040"}},"GRch38":{"90":{"location":"4:5542772-5709548","ensembl_id":"ENSG00000173040"}}},"hgnc_date_symbol_changed":"2003-04-11"},"entity_type":"gene","entity_name":"EVC2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","KidGen_CilioNephronop v38.1.0"],"phenotypes":["Ellis van Creveld syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":193,"hash_id":null,"name":"Renal Ciliopathies and Nephronophthisis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen","status":"public","version":"1.53","version_created":"2026-03-19T17:14:29.802874+11:00","relevant_disorders":["Abnormality of renal medullary morphology","HP:0025361; Renal cyst","HP:0000107"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GPT","D11S366","DGPT","ALG7","CDG-Ij"],"biotype":"protein_coding","hgnc_id":"HGNC:2995","gene_name":"dolichyl-phosphate N-acetylglucosaminephosphotransferase 1","omim_gene":["191350"],"alias_name":["GlcNAc-1-P transferase 1","UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1"],"gene_symbol":"DPAGT1","hgnc_symbol":"DPAGT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118967213-118979041","ensembl_id":"ENSG00000172269"}},"GRch38":{"90":{"location":"11:119096503-119108331","ensembl_id":"ENSG00000172269"}}},"hgnc_date_symbol_changed":"1993-12-13"},"entity_type":"gene","entity_name":"DPAGT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12872255","22492991","22304930","31153949","30653653","30117111"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Congenital disorder of glycosylation, type Ij, MIM# 608093","DPAGT1-CDG MONDO:0011964"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.409","version_created":"2026-04-18T18:50:54.267331+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":["KIAA0375"],"biotype":"protein_coding","hgnc_id":"HGNC:23625","gene_name":"RUN and SH3 domain containing 2","omim_gene":["611053"],"alias_name":null,"gene_symbol":"RUSC2","hgnc_symbol":"RUSC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:35490124-35561895","ensembl_id":"ENSG00000198853"}},"GRch38":{"90":{"location":"9:35490127-35561898","ensembl_id":"ENSG00000198853"}}},"hgnc_date_symbol_changed":"2003-12-02"},"entity_type":"gene","entity_name":"RUSC2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["27612186"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Mental retardation, autosomal recessive 61, MIM#\t617773"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.409","version_created":"2026-04-18T18:50:54.267331+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":["EAP1","KIAA1865"],"biotype":"protein_coding","hgnc_id":"HGNC:14282","gene_name":"interferon regulatory factor 2 binding protein like","omim_gene":["611720"],"alias_name":["enhanced at puberty 1"],"gene_symbol":"IRF2BPL","hgnc_symbol":"IRF2BPL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:77490888-77495034","ensembl_id":"ENSG00000119669"}},"GRch38":{"90":{"location":"14:77024543-77028699","ensembl_id":"ENSG00000119669"}}},"hgnc_date_symbol_changed":"2011-02-23"},"entity_type":"gene","entity_name":"IRF2BPL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30057031","30166628"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088"],"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":"1.409","version_created":"2026-04-18T18:50:54.267331+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:5383","gene_name":"isocitrate dehydrogenase (NADP(+)) 2, mitochondrial","omim_gene":["147650"],"alias_name":null,"gene_symbol":"IDH2","hgnc_symbol":"IDH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:90626277-90645736","ensembl_id":"ENSG00000182054"}},"GRch38":{"90":{"location":"15:90083045-90102504","ensembl_id":"ENSG00000182054"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"IDH2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25778941","27142242","20847235","24049096"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["D-2-hydroxyglutaric aciduria 2, MIM# 613657"],"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":"1.409","version_created":"2026-04-18T18:50:54.267331+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":["HFK2","QIN","BF1","HFK1","HFK3","HBF-3"],"biotype":"protein_coding","hgnc_id":"HGNC:3811","gene_name":"forkhead box G1","omim_gene":["164874"],"alias_name":null,"gene_symbol":"FOXG1","hgnc_symbol":"FOXG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:29235050-29238870","ensembl_id":"ENSG00000176165"}},"GRch38":{"90":{"location":"14:28760330-28770277","ensembl_id":"ENSG00000176165"}}},"hgnc_date_symbol_changed":"2007-05-16"},"entity_type":"gene","entity_name":"FOXG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18571142","30842224"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Rett syndrome, congenital variant, MIM# 613454"],"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":"1.409","version_created":"2026-04-18T18:50:54.267331+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":["KIAA0436"],"biotype":"protein_coding","hgnc_id":"HGNC:30228","gene_name":"prolyl endopeptidase-like","omim_gene":["609557"],"alias_name":null,"gene_symbol":"PREPL","hgnc_symbol":"PREPL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:44543420-44589001","ensembl_id":"ENSG00000138078"}},"GRch38":{"90":{"location":"2:44316281-44361862","ensembl_id":"ENSG00000138078"}}},"hgnc_date_symbol_changed":"2005-02-25"},"entity_type":"gene","entity_name":"PREPL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28726805","27604308","24610330","34888501"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Literature","Literature"],"phenotypes":["Myasthenic syndrome, congenital, 22 MIM#616224","hypotonia-cystinuria syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EFTu","EF-TuMT","EFTU"],"biotype":"protein_coding","hgnc_id":"HGNC:12420","gene_name":"Tu translation elongation factor, mitochondrial","omim_gene":["602389"],"alias_name":null,"gene_symbol":"TUFM","hgnc_symbol":"TUFM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:28853732-28857729","ensembl_id":"ENSG00000178952"}},"GRch38":{"90":{"location":"16:28842411-28846408","ensembl_id":"ENSG00000178952"}}},"hgnc_date_symbol_changed":"1997-04-10"},"entity_type":"gene","entity_name":"TUFM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and 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pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MEGF1","CDHF8","HFAT2","CDHR9"],"biotype":"protein_coding","hgnc_id":"HGNC:3596","gene_name":"FAT atypical cadherin 2","omim_gene":["604269"],"alias_name":["cadherin-related family member 9"],"gene_symbol":"FAT2","hgnc_symbol":"FAT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:150883654-150948505","ensembl_id":"ENSG00000086570"}},"GRch38":{"90":{"location":"5:151504093-151568944","ensembl_id":"ENSG00000086570"}}},"hgnc_date_symbol_changed":"1998-03-25"},"entity_type":"gene","entity_name":"FAT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29053796","33884300"],"evidence":["GeneReviews","Royal Melbourne Hospital","Expert list","Expert list","Expert Review 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This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PMCA2"],"biotype":"protein_coding","hgnc_id":"HGNC:815","gene_name":"ATPase plasma membrane Ca2+ transporting 2","omim_gene":["108733"],"alias_name":["plasma membrane Ca2+ pump 2","plasma membrane calcium-transporting ATPase 2"],"gene_symbol":"ATP2B2","hgnc_symbol":"ATP2B2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:10365707-10749716","ensembl_id":"ENSG00000157087"}},"GRch38":{"90":{"location":"3:10324023-10708031","ensembl_id":"ENSG00000157087"}}},"hgnc_date_symbol_changed":"1992-06-26"},"entity_type":"gene","entity_name":"ATP2B2","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":["PMID: 37675773"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10681","gene_name":"succinate dehydrogenase complex iron sulfur subunit B","omim_gene":["185470"],"alias_name":["iron-sulfur subunit of complex II","succinate dehydrogenase [ubiquinone] iron-sulfur subunit"],"gene_symbol":"SDHB","hgnc_symbol":"SDHB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:17345217-17380665","ensembl_id":"ENSG00000117118"}},"GRch38":{"90":{"location":"1:17018722-17054170","ensembl_id":"ENSG00000117118"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"SDHB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22972948","26925370","27604842"],"evidence":["Expert Review Green","Royal Melbourne Hospital","Australian Genomcis Health Alliance Leukodystrophy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Succinate dehydrogenase-deficient leukoencephalopathy","Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224","Complex II deficiency","mitochondrial leucoencephalopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AIP1","ARMER","KIAA0069","SPG61"],"biotype":"protein_coding","hgnc_id":"HGNC:697","gene_name":"ADP ribosylation factor like GTPase 6 interacting protein 1","omim_gene":["607669"],"alias_name":null,"gene_symbol":"ARL6IP1","hgnc_symbol":"ARL6IP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:18802991-18813000","ensembl_id":"ENSG00000170540"}},"GRch38":{"90":{"location":"16:18791667-18801678","ensembl_id":"ENSG00000170540"}}},"hgnc_date_symbol_changed":"2006-09-26"},"entity_type":"gene","entity_name":"ARL6IP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["HSAN/SFN","Childhood-onset spastic paraplegia with mutilating, sensory>motor axonal neuropathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ERYF1","NFE1","GATA-1","NF-E1"],"biotype":"protein_coding","hgnc_id":"HGNC:4170","gene_name":"GATA binding protein 1","omim_gene":["305371"],"alias_name":["nuclear factor, erythroid 1"],"gene_symbol":"GATA1","hgnc_symbol":"GATA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48644962-48652716","ensembl_id":"ENSG00000102145"}},"GRch38":{"90":{"location":"X:48786554-48794311","ensembl_id":"ENSG00000102145"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"GATA1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["25251786","17148589"],"evidence":["Expert Review Amber","Royal Melbourne Hospital"],"phenotypes":["Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367","Congenital erythropoietic porphyria"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3077,"hash_id":null,"name":"Haem degradation and bilirubin metabolism defects","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause disorders of tetrapyrroles, including porphyria and disorders of bilirubin metabolism and biliary transport. \r\n\r\nThis panel is part of the Metabolic Disorders Superpanl. It was developed and maintained by RMH, and is a consensus panel used by VCGS.","status":"public","version":"0.20","version_created":"2026-02-22T15:38:52.606788+11:00","relevant_disorders":["Porphyria","MONDO:0037939;Abnormal circulating porphyrin concentration","HP:0010472;Hyperbilirubinemia","HP:0002904"],"stats":{"number_of_genes":25,"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":["S2P"],"biotype":"protein_coding","hgnc_id":"HGNC:15455","gene_name":"membrane bound transcription factor peptidase, site 2","omim_gene":["300294"],"alias_name":["site-2 protease"],"gene_symbol":"MBTPS2","hgnc_symbol":"MBTPS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:21857754-21903542","ensembl_id":"ENSG00000012174"}},"GRch38":{"90":{"location":"X:21839636-21885424","ensembl_id":"ENSG00000012174"}}},"hgnc_date_symbol_changed":"2001-03-30"},"entity_type":"gene","entity_name":"MBTPS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["19361614","22105905","24313295"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["IFAP syndrome with or without BRESHECK syndrome\tMIM#308205"],"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":3089,"hash_id":null,"name":"Ectodermal Dysplasia","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body.\r\n\r\nThis is a consensus panel used by RMH and VCGS.\r\n\r\nPlease refer to the Hair Disorders panel for disorders primarily affecting hair.","status":"public","version":"0.110","version_created":"2026-03-31T16:43:36.155380+11:00","relevant_disorders":["Ectodermal dysplasia","HP:0000968"],"stats":{"number_of_genes":61,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4173","gene_name":"GATA binding protein 4","omim_gene":["600576"],"alias_name":null,"gene_symbol":"GATA4","hgnc_symbol":"GATA4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:11534468-11617511","ensembl_id":"ENSG00000136574"}},"GRch38":{"90":{"location":"8:11676959-11760002","ensembl_id":"ENSG00000136574"}}},"hgnc_date_symbol_changed":"1994-11-30"},"entity_type":"gene","entity_name":"GATA4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27810688","24696446","20854389"],"evidence":["Expert Review Green","NHS GMS","UKGTN"],"phenotypes":["neonatal diabetes mellitus MONDO:0016391"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"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:6081","gene_name":"insulin","omim_gene":["176730"],"alias_name":null,"gene_symbol":"INS","hgnc_symbol":"INS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:2181009-2182571","ensembl_id":"ENSG00000254647"}},"GRch38":{"90":{"location":"11:2159779-2161341","ensembl_id":"ENSG00000254647"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"INS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17855560","18451997","18162506","18192540","32034745","30182532"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["diabetes mellitus, permanent neonatal 4 MONDO:0030089","maturity-onset diabetes of the young type 10 MONDO:0013240"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"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":["ABS","MGC8828"],"biotype":"protein_coding","hgnc_id":"HGNC:18674","gene_name":"DEAD-box helicase 41","omim_gene":["608170"],"alias_name":null,"gene_symbol":"DDX41","hgnc_symbol":"DDX41","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:176938578-176944470","ensembl_id":"ENSG00000183258"}},"GRch38":{"90":{"location":"5:177511577-177517469","ensembl_id":"ENSG00000183258"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"DDX41","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["41646732"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Inherited retinal dystrophy, MONDO:0019118, DDX41-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["preprint"],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.256","version_created":"2026-03-31T19:05:29.271183+11:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":138,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["EVEC","UP50","DANCE","ARMD3"],"biotype":"protein_coding","hgnc_id":"HGNC:3602","gene_name":"fibulin 5","omim_gene":["604580"],"alias_name":null,"gene_symbol":"FBLN5","hgnc_symbol":"FBLN5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:92335756-92414331","ensembl_id":"ENSG00000140092"}},"GRch38":{"90":{"location":"14:91869412-91947987","ensembl_id":"ENSG00000140092"}}},"hgnc_date_symbol_changed":"1999-06-25"},"entity_type":"gene","entity_name":"FBLN5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["3232707","22829427","11805835"],"evidence":["Expert Review Green","Expert list","GeneReviews"],"phenotypes":["Cutis laxa, autosomal recessive, type IA MIM#219100","Cutis laxa, autosomal dominant 2 MIM#614434"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["JTK13","CD221","IGFIR","MGC18216","IGFR"],"biotype":"protein_coding","hgnc_id":"HGNC:5465","gene_name":"insulin like growth factor 1 receptor","omim_gene":["147370"],"alias_name":null,"gene_symbol":"IGF1R","hgnc_symbol":"IGF1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:99192200-99507759","ensembl_id":"ENSG00000140443"}},"GRch38":{"90":{"location":"15:98648971-98964530","ensembl_id":"ENSG00000140443"}}},"hgnc_date_symbol_changed":"1988-07-07"},"entity_type":"gene","entity_name":"IGF1R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Insulin-like growth factor I, resistance to, 270450 (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":["FLJ22501","BLOC2S3"],"biotype":"protein_coding","hgnc_id":"HGNC:18817","gene_name":"HPS6, biogenesis of lysosomal organelles complex 2 subunit 3","omim_gene":["607522"],"alias_name":null,"gene_symbol":"HPS6","hgnc_symbol":"HPS6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:103825147-103827792","ensembl_id":"ENSG00000166189"}},"GRch38":{"90":{"location":"10:102065390-102068038","ensembl_id":"ENSG00000166189"}}},"hgnc_date_symbol_changed":"2004-02-04"},"entity_type":"gene","entity_name":"HPS6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hermansky-Pudlak syndrome 6, 614075 (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":["MGC10527","DKFZP564J0123","E3-3","2P1"],"biotype":"protein_coding","hgnc_id":"HGNC:29918","gene_name":"NADH:ubiquinone oxidoreductase complex assembly factor 3","omim_gene":["612911"],"alias_name":null,"gene_symbol":"NDUFAF3","hgnc_symbol":"NDUFAF3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:49057892-49060928","ensembl_id":"ENSG00000178057"}},"GRch38":{"90":{"location":"3:49020459-49023495","ensembl_id":"ENSG00000178057"}}},"hgnc_date_symbol_changed":"2009-03-18"},"entity_type":"gene","entity_name":"NDUFAF3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","MetBioNet","NHS GMS"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 18, 618240"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CNC1"],"biotype":"protein_coding","hgnc_id":"HGNC:9388","gene_name":"protein kinase cAMP-dependent type I regulatory subunit alpha","omim_gene":["188830"],"alias_name":["Carney complex type 1"],"gene_symbol":"PRKAR1A","hgnc_symbol":"PRKAR1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:66507921-66547460","ensembl_id":"ENSG00000108946"}},"GRch38":{"90":{"location":"17:68511780-68551319","ensembl_id":"ENSG00000108946"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"PRKAR1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Carney complex"],"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":["GBP","LCEH","LCHAD","MTPA"],"biotype":"protein_coding","hgnc_id":"HGNC:4801","gene_name":"hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha","omim_gene":["600890"],"alias_name":["gastrin-binding protein","long-chain-3-hydroxyacyl-CoA dehydrogenase","long-chain 2-enoyl-CoA hydratase","mitochondrial trifunctional protein, alpha subunit"],"gene_symbol":"HADHA","hgnc_symbol":"HADHA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:26413504-26467594","ensembl_id":"ENSG00000084754"}},"GRch38":{"90":{"location":"2:26190635-26244726","ensembl_id":"ENSG00000084754"}}},"hgnc_date_symbol_changed":"1994-12-16"},"entity_type":"gene","entity_name":"HADHA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Mitochondrial trifunctional protein deficiency"],"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":["PAHX","RD","PHYH1"],"biotype":"protein_coding","hgnc_id":"HGNC:8940","gene_name":"phytanoyl-CoA 2-hydroxylase","omim_gene":["602026"],"alias_name":["Refsum disease","phytanoyl-CoA dioxygenase"],"gene_symbol":"PHYH","hgnc_symbol":"PHYH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:13319796-13344412","ensembl_id":"ENSG00000107537"}},"GRch38":{"90":{"location":"10:13277796-13302412","ensembl_id":"ENSG00000107537"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"PHYH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Refsum disease"],"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":["p40phox","SH3PXD4"],"biotype":"protein_coding","hgnc_id":"HGNC:7662","gene_name":"neutrophil cytosolic factor 4","omim_gene":["601488"],"alias_name":["neutrophil NADPH oxidase factor 4"],"gene_symbol":"NCF4","hgnc_symbol":"NCF4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:37257030-37274057","ensembl_id":"ENSG00000100365"}},"GRch38":{"90":{"location":"22:36860988-36878015","ensembl_id":"ENSG00000100365"}}},"hgnc_date_symbol_changed":"1996-06-19"},"entity_type":"gene","entity_name":"NCF4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Chronic granulomatous disease"],"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":["HSHIN1","KIAA1046","DUBA6"],"biotype":"protein_coding","hgnc_id":"HGNC:24949","gene_name":"OTU deubiquitinase 4","omim_gene":["611744"],"alias_name":null,"gene_symbol":"OTUD4","hgnc_symbol":"OTUD4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:146031990-146101313","ensembl_id":"ENSG00000164164"}},"GRch38":{"90":{"location":"4:145110838-145180161","ensembl_id":"ENSG00000164164"}}},"hgnc_date_symbol_changed":"2005-09-28"},"entity_type":"gene","entity_name":"OTUD4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Hypogonadotropic hypogonadism, ataxia & dementia"],"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":["MGC88819","S10"],"biotype":"protein_coding","hgnc_id":"HGNC:10383","gene_name":"ribosomal protein S10","omim_gene":["603632"],"alias_name":null,"gene_symbol":"RPS10","hgnc_symbol":"RPS10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:34385231-34393902","ensembl_id":"ENSG00000124614"}},"GRch38":{"90":{"location":"6:34417454-34426125","ensembl_id":"ENSG00000124614"}}},"hgnc_date_symbol_changed":"1997-07-07"},"entity_type":"gene","entity_name":"RPS10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"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":["KIAA0526","LCB2","LCB2A","hLCB2a"],"biotype":"protein_coding","hgnc_id":"HGNC:11278","gene_name":"serine palmitoyltransferase long chain base subunit 2","omim_gene":["605713"],"alias_name":null,"gene_symbol":"SPTLC2","hgnc_symbol":"SPTLC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:77972340-78083116","ensembl_id":"ENSG00000100596"}},"GRch38":{"90":{"location":"14:77505997-77616773","ensembl_id":"ENSG00000100596"}}},"hgnc_date_symbol_changed":"2000-08-01"},"entity_type":"gene","entity_name":"SPTLC2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Neuropathy, hereditary sensory and autonomic, type IC"],"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":["MCCA"],"biotype":"protein_coding","hgnc_id":"HGNC:6936","gene_name":"methylcrotonoyl-CoA carboxylase 1","omim_gene":["609010"],"alias_name":["methylcrotonoyl-CoA carboxylase alpha"],"gene_symbol":"MCCC1","hgnc_symbol":"MCCC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:182733006-182833863","ensembl_id":"ENSG00000078070"}},"GRch38":{"90":{"location":"3:183015218-183116075","ensembl_id":"ENSG00000078070"}}},"hgnc_date_symbol_changed":"1992-12-07"},"entity_type":"gene","entity_name":"MCCC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36822454","31730530"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200","Organic acidurias"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2910","gene_name":"delta like canonical Notch ligand 4","omim_gene":["605185"],"alias_name":null,"gene_symbol":"DLL4","hgnc_symbol":"DLL4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:41221538-41231237","ensembl_id":"ENSG00000128917"}},"GRch38":{"90":{"location":"15:40929340-40939072","ensembl_id":"ENSG00000128917"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"DLL4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26299364","33899511","31261205","29924900"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Adams-Oliver syndrome 6, 616589"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3729,"hash_id":null,"name":"Hand and foot malformations","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.","status":"public","version":"0.89","version_created":"2026-04-07T13:49:34.993963+10:00","relevant_disorders":["Abnormal hand morphology","HP:0005922; Abnormal foot morphology","HP:0001760"],"stats":{"number_of_genes":101,"number_of_strs":1,"number_of_regions":5},"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":["DLDH"],"biotype":"protein_coding","hgnc_id":"HGNC:2898","gene_name":"dihydrolipoamide dehydrogenase","omim_gene":["238331"],"alias_name":["E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"],"gene_symbol":"DLD","hgnc_symbol":"DLD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:107531415-107572175","ensembl_id":"ENSG00000091140"}},"GRch38":{"90":{"location":"7:107890970-107931730","ensembl_id":"ENSG00000091140"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"DLD","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["3769994","8506365","9934985","17404228","21558426","21930696"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Dihydrolipoamide dehydrogenase deficiency MIM#246900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CPTASE"],"biotype":"protein_coding","hgnc_id":"HGNC:2330","gene_name":"carnitine palmitoyltransferase 2","omim_gene":["600650"],"alias_name":null,"gene_symbol":"CPT2","hgnc_symbol":"CPT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:53662101-53679869","ensembl_id":"ENSG00000157184"}},"GRch38":{"90":{"location":"1:53196429-53214197","ensembl_id":"ENSG00000157184"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"CPT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11477613","12410208"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["CPT II deficiency, lethal neonatal, MIM# 608836"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HDCMA18P","PIP7S","DKFZP564K112"],"biotype":"protein_coding","hgnc_id":"HGNC:24912","gene_name":"La ribonucleoprotein domain family member 7","omim_gene":["612026"],"alias_name":["P-TEFb-interaction protein for 7SK stability"],"gene_symbol":"LARP7","hgnc_symbol":"LARP7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:113558120-113578748","ensembl_id":"ENSG00000174720"}},"GRch38":{"90":{"location":"4:112636964-112657592","ensembl_id":"ENSG00000174720"}}},"hgnc_date_symbol_changed":"2006-07-05"},"entity_type":"gene","entity_name":"LARP7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22865833","21937992","30006060","33569879"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Alazami syndrome, MIM# 615071","Microcephalic primordial dwarfism, Alazami type MONDO:0014031"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Sm-E"],"biotype":"protein_coding","hgnc_id":"HGNC:11161","gene_name":"small nuclear ribonucleoprotein polypeptide E","omim_gene":["128260"],"alias_name":null,"gene_symbol":"SNRPE","hgnc_symbol":"SNRPE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:203830731-203839678","ensembl_id":"ENSG00000182004"}},"GRch38":{"90":{"location":"1:203861603-203870550","ensembl_id":"ENSG00000182004"}}},"hgnc_date_symbol_changed":"1988-11-28"},"entity_type":"gene","entity_name":"SNRPE","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp","Literature"],"phenotypes":["Hypotrichosis 11, MIM #615059"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC13453","N33","OST3A","MRT7"],"biotype":"protein_coding","hgnc_id":"HGNC:30242","gene_name":"tumor suppressor candidate 3","omim_gene":["601385"],"alias_name":["oligosaccharyltransferase 3 homolog A (S. cerevisiae)","Magnesium uptake/transporter TUSC3"],"gene_symbol":"TUSC3","hgnc_symbol":"TUSC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:15274724-15624158","ensembl_id":"ENSG00000104723"}},"GRch38":{"90":{"location":"8:15417215-15766649","ensembl_id":"ENSG00000104723"}}},"hgnc_date_symbol_changed":"2004-01-20"},"entity_type":"gene","entity_name":"TUSC3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["18452889","18455129","21739581","27148795","31606977"],"evidence":["Expert Review Red","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615","TUSC3-CDG (Disorders of protein N-glycosylation)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Gnathodiaphyseal dysplasia, MIM# 166260","Miyoshi muscular dystrophy 3, MIM# 613319","Muscular dystrophy, limb-girdle, autosomal recessive 12, MIM# 611307"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["S29"],"biotype":"protein_coding","hgnc_id":"HGNC:10419","gene_name":"ribosomal protein S29","omim_gene":["603633"],"alias_name":null,"gene_symbol":"RPS29","hgnc_symbol":"RPS29","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:50043390-50065408","ensembl_id":"ENSG00000213741"}},"GRch38":{"90":{"location":"14:49570984-49599164","ensembl_id":"ENSG00000213741"}}},"hgnc_date_symbol_changed":"1997-07-04"},"entity_type":"gene","entity_name":"RPS29","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Diamond-Blackfan anemia 13, MIM# 615909"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3829,"hash_id":null,"name":"IBMDx study","disease_group":"","disease_sub_group":"","description":"The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2,  BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.","status":"public","version":"0.42","version_created":"2026-03-19T18:45:41.236506+11:00","relevant_disorders":[],"stats":{"number_of_genes":101,"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":"Research","slug":"research","description":"Research panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["THTR2"],"biotype":"protein_coding","hgnc_id":"HGNC:16266","gene_name":"solute carrier family 19 member 3","omim_gene":["606152"],"alias_name":["thiamine transporter 2"],"gene_symbol":"SLC19A3","hgnc_symbol":"SLC19A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:228549926-228582728","ensembl_id":"ENSG00000135917"}},"GRch38":{"90":{"location":"2:227685210-227718012","ensembl_id":"ENSG00000135917"}}},"hgnc_date_symbol_changed":"2001-07-19"},"entity_type":"gene","entity_name":"SLC19A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15871139","19387023","20065143","23423671"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9498","gene_name":"prosaposin","omim_gene":["176801"],"alias_name":["variant Gaucher disease and variant metachromatic leukodystrophy"],"gene_symbol":"PSAP","hgnc_symbol":"PSAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:73576055-73611126","ensembl_id":"ENSG00000197746"}},"GRch38":{"90":{"location":"10:71816298-71851375","ensembl_id":"ENSG00000197746"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PSAP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10682309","30632081","11309366","19267410","8554069"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Metachromatic leukodystrophy due to SAP-b deficiency, MIM#249900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NEB177D"],"biotype":"protein_coding","hgnc_id":"HGNC:7720","gene_name":"nebulin","omim_gene":["161650"],"alias_name":["nemaline myopathy type 2"],"gene_symbol":"NEB","hgnc_symbol":"NEB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:152341850-152591001","ensembl_id":"ENSG00000183091"}},"GRch38":{"90":{"location":"2:151485336-151734487","ensembl_id":"ENSG00000183091"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NEB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10051637","22367672","26578207","33376055"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Nemaline myopathy 2, autosomal recessive (MIM#256030)","Arthrogryposis multiplex congenita 6 (MIM#619334)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:746","gene_name":"argininosuccinate lyase","omim_gene":["608310"],"alias_name":null,"gene_symbol":"ASL","hgnc_symbol":"ASL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:65540785-65558545","ensembl_id":"ENSG00000126522"}},"GRch38":{"90":{"location":"7:66075798-66093558","ensembl_id":"ENSG00000126522"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ASL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Argininosuccinic aciduria, MIM#207900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SHAPY","SCAN-1"],"biotype":"protein_coding","hgnc_id":"HGNC:19721","gene_name":"calcium activated nucleotidase 1","omim_gene":["613165"],"alias_name":["Soluble Ca-Activated Nucleotidase, isozyme 1"],"gene_symbol":"CANT1","hgnc_symbol":"CANT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:76987799-77005949","ensembl_id":"ENSG00000171302"}},"GRch38":{"90":{"location":"17:78991717-79009867","ensembl_id":"ENSG00000171302"}}},"hgnc_date_symbol_changed":"2004-10-15"},"entity_type":"gene","entity_name":"CANT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19853239","21037275","28742282"],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Desbuquois dysplasia 1, MIM# 251450","Epiphyseal dysplasia, multiple, 7, MIM# 617719"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EMT","PSCTK2","LYK"],"biotype":"protein_coding","hgnc_id":"HGNC:6171","gene_name":"IL2 inducible T-cell kinase","omim_gene":["186973"],"alias_name":null,"gene_symbol":"ITK","hgnc_symbol":"ITK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:156569944-156682201","ensembl_id":"ENSG00000113263"}},"GRch38":{"90":{"location":"5:157142933-157255191","ensembl_id":"ENSG00000113263"}}},"hgnc_date_symbol_changed":"1995-12-18"},"entity_type":"gene","entity_name":"ITK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["19425169","22289921","25061172","26056787","9311799","10213685"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Lymphoproliferative syndrome 1\tMIM#613011"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4389,"hash_id":null,"name":"Autoimmune Lymphoproliferative Syndrome","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel has been compiled based on the following study:\r\n\r\nGenetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital Medical Center (PMID: 39060684)","status":"public","version":"1.12","version_created":"2026-02-26T20:52:40.847942+11:00","relevant_disorders":[],"stats":{"number_of_genes":20,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]}]}