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If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GBA1"],"biotype":"protein_coding","hgnc_id":"HGNC:4177","gene_name":"glucosylceramidase beta","omim_gene":["606463"],"alias_name":null,"gene_symbol":"GBA","hgnc_symbol":"GBA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:155204243-155214490","ensembl_id":"ENSG00000177628"}},"GRch38":{"90":{"location":"1:155234452-155244699","ensembl_id":"ENSG00000177628"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GBA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32324335"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Gaucher disease"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":78,"hash_id":null,"name":"Cholestasis","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS.\r\n\r\nIt includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause cholestasis.\r\n\r\nPlease also consider using the Liver Failure_Paediatric panel if clinically indicated.\r\n\r\nThe content of this panel has been compared against the Genomics England PanelApp 'Cholestasis' panel V1.21, with all discrepancies reviewed and resolved, and reciprocal feedback provided to Genomics England.","status":"public","version":"1.10","version_created":"2026-03-26T17:26:27.105917+11:00","relevant_disorders":["Cholestasis HP:0001396"],"stats":{"number_of_genes":99,"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":["XPB","BTF2","RAD25","TFIIH","GTF2H"],"biotype":"protein_coding","hgnc_id":"HGNC:3435","gene_name":"ERCC excision repair 3, TFIIH core complex helicase subunit","omim_gene":["133510"],"alias_name":["xeroderma pigmentosum group B complementing"],"gene_symbol":"ERCC3","hgnc_symbol":"ERCC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:128014866-128051752","ensembl_id":"ENSG00000163161"}},"GRch38":{"90":{"location":"2:127257290-127294176","ensembl_id":"ENSG00000163161"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ERCC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["2167179","10447254","16947863","9012405","32557569","27004399"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Trichothiodystrophy 2, photosensitive, MIM# 616390","Xeroderma pigmentosum, group B 61, MIM#0651"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":79,"hash_id":null,"name":"Chromosome Breakage Disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created and is maintained by VCGS.\r\n\r\nChromosomal instability syndromes are a group of inherited disorders associated with chromosomal instability and breakage either spontaneously or in response to DNA damaging agents. 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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":"1.52","version_created":"2026-04-23T10:59:57.828482+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":["PCN","PLTN"],"biotype":"protein_coding","hgnc_id":"HGNC:9069","gene_name":"plectin","omim_gene":["601282"],"alias_name":null,"gene_symbol":"PLEC","hgnc_symbol":"PLEC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:144989321-145050902","ensembl_id":"ENSG00000178209"}},"GRch38":{"90":{"location":"8:143915147-143976734","ensembl_id":"ENSG00000178209"}}},"hgnc_date_symbol_changed":"2010-02-04"},"entity_type":"gene","entity_name":"PLEC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Epidermolysis bullosa simplex with nail dystrophy 616487 AR 3 Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670","Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138","Epidermolysis bullosa simplex, Ogna type, MIM# 131950"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":101,"hash_id":null,"name":"Epidermolysis bullosa","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.","status":"public","version":"1.27","version_created":"2026-03-08T22:19:30.435795+11:00","relevant_disorders":["Abnormal blistering of the skin","HP:0008066"],"stats":{"number_of_genes":46,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:8905","gene_name":"phosphoglucomutase 1","omim_gene":["171900"],"alias_name":null,"gene_symbol":"PGM1","hgnc_symbol":"PGM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:64058947-64125916","ensembl_id":"ENSG00000079739"}},"GRch38":{"90":{"location":"1:63593276-63660245","ensembl_id":"ENSG00000079739"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PGM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19625727","24499211"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type It 614921","Glycogen storage disorder XIV"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":106,"hash_id":null,"name":"Glycogen Storage Diseases","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).","status":"public","version":"1.4","version_created":"2025-11-21T17:00:56.134684+11:00","relevant_disorders":["Abnormal hepatic glycogen storage","HP:0500030; Abnormal muscle glycogen content","HP:0012269; Visceromegaly","HP:0003271;Hypoglycemia","HP:0001943"],"stats":{"number_of_genes":29,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC12435","1700010H15RiK","CILD16"],"biotype":"protein_coding","hgnc_id":"HGNC:23247","gene_name":"dynein axonemal light chain 1","omim_gene":["610062"],"alias_name":null,"gene_symbol":"DNAL1","hgnc_symbol":"DNAL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:74111578-74170435","ensembl_id":"ENSG00000119661"}},"GRch38":{"90":{"location":"14:73644875-73703732","ensembl_id":"ENSG00000119661"}}},"hgnc_date_symbol_changed":"2006-09-04"},"entity_type":"gene","entity_name":"DNAL1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["21496787"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 16, MIM# 614017"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":108,"hash_id":null,"name":"Heterotaxy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Laterality disorders and isomerism' panel V1.19, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.45","version_created":"2026-03-17T16:09:39.911604+11:00","relevant_disorders":["Heterotaxy","HP:0030853; Dextrocardia","HP:0001651; Asplenia","HP:0001746; Abnormal spatial orientation of cardiac segments","HP:0011534; Polysplenia","HP:0001748;Midline liver","HP:0034188"],"stats":{"number_of_genes":67,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC46235"],"biotype":"protein_coding","hgnc_id":"HGNC:21586","gene_name":"tubulin tyrosine ligase","omim_gene":["608291"],"alias_name":null,"gene_symbol":"TTL","hgnc_symbol":"TTL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:113239731-113299316","ensembl_id":"ENSG00000114999"}},"GRch38":{"90":{"location":"2:112482154-112541739","ensembl_id":"ENSG00000114999"}}},"hgnc_date_symbol_changed":"2004-01-13"},"entity_type":"gene","entity_name":"TTL","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40779454"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Hypertrophic cardiomyopathy, MONDO:0005045, TTL-related"],"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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7010","gene_name":"menin 1","omim_gene":["613733"],"alias_name":["menin"],"gene_symbol":"MEN1","hgnc_symbol":"MEN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:64570982-64578766","ensembl_id":"ENSG00000133895"}},"GRch38":{"90":{"location":"11:64803510-64811294","ensembl_id":"ENSG00000133895"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MEN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["20301710"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Insulinoma","Multiple endocrine neoplasia 1, MIM# 131100"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":118,"hash_id":null,"name":"Hyperinsulinism","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS and RMH.\r\n\r\nThis panel contains genes associated with hyperinsulinism (non-syndromic and syndromic). \r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital hyperinsulinism' panel V3.5, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nFor severe, persistent hypoglycaemia, consider also applying the Metabolic Disorders Superpanel, or more specifically, the Glycogen Storage Diseases and Fatty Acid Oxidation Defects panels.\r\n\r\nIf features of the following diagnoses, request alternate genetic test listed:\r\na) Beckwith-Wiedeman syndrome - request BWS methylation studies\r\nb) Congenital central hypoventilation syndrome - request PHOX2B poly-A expansion repeat testing","status":"public","version":"1.51","version_created":"2026-03-09T16:58:00.909830+11:00","relevant_disorders":["Hyperinsulinaemia","HP:0000842;Hypoglycemia","HP:0001943"],"stats":{"number_of_genes":35,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CSBP","TUNP"],"biotype":"protein_coding","hgnc_id":"HGNC:5044","gene_name":"heterogeneous nuclear ribonucleoprotein K","omim_gene":["600712"],"alias_name":["transformation upregulated nuclear protein"],"gene_symbol":"HNRNPK","hgnc_symbol":"HNRNPK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:86582998-86595569","ensembl_id":"ENSG00000165119"}},"GRch38":{"90":{"location":"9:83968083-83980616","ensembl_id":"ENSG00000165119"}}},"hgnc_date_symbol_changed":"2008-04-18"},"entity_type":"gene","entity_name":"HNRNPK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":134,"hash_id":null,"name":"Kabuki syndrome","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.17","version_created":"2025-11-13T11:58:53.337652+11:00","relevant_disorders":["Kabuki syndrome","MONDO:0016512"],"stats":{"number_of_genes":8,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RPAC2","RPA16","RPO1-3","RPA9","MGC9850"],"biotype":"protein_coding","hgnc_id":"HGNC:20422","gene_name":"RNA polymerase I subunit D","omim_gene":["613715"],"alias_name":null,"gene_symbol":"POLR1D","hgnc_symbol":"POLR1D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:28194903-28241548","ensembl_id":"ENSG00000186184"}},"GRch38":{"90":{"location":"13:27620742-27744237","ensembl_id":"ENSG00000186184"}}},"hgnc_date_symbol_changed":"2003-04-01"},"entity_type":"gene","entity_name":"POLR1D","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21131976","24603435","27448281","25790162"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Treacher Collins syndrome 2, MIM# 613717"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":136,"hash_id":null,"name":"Mandibulofacial Acrofacial dysostosis","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 contains genes associated with the facial dysostoses, which can be subdivided into mandibulofacial dysostoses, which present with craniofacial defects only, and acrofacial dysostoses, which encompass both craniofacial and limb anomalies. Facial dysostoses arise as a consequence of abnormal development of the first and second pharyngeal arches and their derivatives, including the upper and lower jaw and their hyoid support structures.","status":"public","version":"1.22","version_created":"2026-03-25T17:21:58.910310+11:00","relevant_disorders":["Craniofacial dysostosis","HP:0004439"],"stats":{"number_of_genes":35,"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":["CLP","MLP","CMD1M"],"biotype":"protein_coding","hgnc_id":"HGNC:2472","gene_name":"cysteine and glycine rich protein 3","omim_gene":["600824"],"alias_name":["cardiac LIM protein"],"gene_symbol":"CSRP3","hgnc_symbol":"CSRP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:19203578-19232120","ensembl_id":"ENSG00000129170"}},"GRch38":{"90":{"location":"11:19182030-19210573","ensembl_id":"ENSG00000129170"}}},"hgnc_date_symbol_changed":"1999-07-21"},"entity_type":"gene","entity_name":"CSRP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18505755","30681346","12507422","14567970","19412328"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["hypertrophic cardiomyopathy12 MIM#612124","dilated cardiomyopathy 1M MIM#607482"],"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":"1.4796","version_created":"2026-04-26T17:41:46.661582+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SBCAD","ACAD7"],"biotype":"protein_coding","hgnc_id":"HGNC:91","gene_name":"acyl-CoA dehydrogenase short/branched chain","omim_gene":["600301"],"alias_name":null,"gene_symbol":"ACADSB","hgnc_symbol":"ACADSB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:124768495-124817827","ensembl_id":"ENSG00000196177"}},"GRch38":{"90":{"location":"10:123008979-123058311","ensembl_id":"ENSG00000196177"}}},"hgnc_date_symbol_changed":"1994-10-14"},"entity_type":"gene","entity_name":"ACADSB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["PMID: 25778941","17945527"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["2-methylbutyrylglycinuria MIM#610006"],"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":"1.4796","version_created":"2026-04-26T17:41:46.661582+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CASQ2BP1","BAH","JCTN","HAAH"],"biotype":"protein_coding","hgnc_id":"HGNC:757","gene_name":"aspartate beta-hydroxylase","omim_gene":["600582"],"alias_name":["junctin","humbug","junctate"],"gene_symbol":"ASPH","hgnc_symbol":"ASPH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:62413116-62627155","ensembl_id":"ENSG00000198363"}},"GRch38":{"90":{"location":"8:61500556-61714640","ensembl_id":"ENSG00000198363"}}},"hgnc_date_symbol_changed":"1995-06-13"},"entity_type":"gene","entity_name":"ASPH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24768550","30194805","34018898","35697689"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Traboulsi syndrome , MIM#601552","Exertional heat illness","malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related"],"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":"1.4796","version_created":"2026-04-26T17:41:46.661582+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NNT1","BSF3","CLC","NR6","CISS2","BSF-3","NNT-1"],"biotype":"protein_coding","hgnc_id":"HGNC:17412","gene_name":"cardiotrophin like cytokine factor 1","omim_gene":["607672"],"alias_name":["B-cell stimulating factor 3","cold-induced sweating syndrome 2","novel neurotrophin-1"],"gene_symbol":"CLCF1","hgnc_symbol":"CLCF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:67131639-67141648","ensembl_id":"ENSG00000175505"}},"GRch38":{"90":{"location":"11:67364168-67374177","ensembl_id":"ENSG00000175505"}}},"hgnc_date_symbol_changed":"2005-02-22"},"entity_type":"gene","entity_name":"CLCF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16782820","20400119","21370513"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cold-induced sweating syndrome 2 MIM#610313"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4796","version_created":"2026-04-26T17:41:46.661582+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GK001"],"biotype":"protein_coding","hgnc_id":"HGNC:24856","gene_name":"coiled-coil domain containing 47","omim_gene":null,"alias_name":["Calumin"],"gene_symbol":"CCDC47","hgnc_symbol":"CCDC47","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:61822610-61853711","ensembl_id":"ENSG00000108588"}},"GRch38":{"90":{"location":"17:63745250-63776351","ensembl_id":"ENSG00000108588"}}},"hgnc_date_symbol_changed":"2005-12-19"},"entity_type":"gene","entity_name":"CCDC47","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30401460"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Trichohepatoneurodevelopmental syndrome, 618268"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4796","version_created":"2026-04-26T17:41:46.661582+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3631","gene_name":"farnesyl diphosphate synthase","omim_gene":["134629"],"alias_name":["farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"],"gene_symbol":"FDPS","hgnc_symbol":"FDPS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:155278539-155290457","ensembl_id":"ENSG00000160752"}},"GRch38":{"90":{"location":"1:155308748-155320666","ensembl_id":"ENSG00000160752"}}},"hgnc_date_symbol_changed":"1992-03-13"},"entity_type":"gene","entity_name":"FDPS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26202976","30561051","38283795","41240373"],"evidence":["Expert Review Green","Literature"],"phenotypes":["porokeratosis 9, multiple types MONDO:0014713"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4796","version_created":"2026-04-26T17:41:46.661582+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["P56","KKIAMRE"],"biotype":"protein_coding","hgnc_id":"HGNC:1782","gene_name":"cyclin dependent kinase like 2","omim_gene":["603442"],"alias_name":null,"gene_symbol":"CDKL2","hgnc_symbol":"CDKL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:76503215-76555900","ensembl_id":"ENSG00000138769"}},"GRch38":{"90":{"location":"4:75578005-75630716","ensembl_id":"ENSG00000138769"}}},"hgnc_date_symbol_changed":"1999-09-07"},"entity_type":"gene","entity_name":"CDKL2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"Other","publications":["PMID: 40088891"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, CDKL2-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":"1.4796","version_created":"2026-04-26T17:41:46.661582+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P160","PAP2","FLJ37886","Pol5"],"biotype":"protein_coding","hgnc_id":"HGNC:7546","gene_name":"MYB binding protein 1a","omim_gene":["604885"],"alias_name":["p53-activated protein-2"],"gene_symbol":"MYBBP1A","hgnc_symbol":"MYBBP1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:4442192-4458926","ensembl_id":"ENSG00000132382"}},"GRch38":{"90":{"location":"17:4538897-4555631","ensembl_id":"ENSG00000132382"}}},"hgnc_date_symbol_changed":"1999-06-25"},"entity_type":"gene","entity_name":"MYBBP1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39191491","28425981"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hydrops fetalis, MONDO:0015193, MYBBP1A-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":"1.4796","version_created":"2026-04-26T17:41:46.661582+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RBQ3","SWD1"],"biotype":"protein_coding","hgnc_id":"HGNC:9888","gene_name":"RB binding protein 5, histone lysine methyltransferase complex subunit","omim_gene":["600697"],"alias_name":["SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"],"gene_symbol":"RBBP5","hgnc_symbol":"RBBP5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:205055270-205091143","ensembl_id":"ENSG00000117222"}},"GRch38":{"90":{"location":"1:205086142-205122015","ensembl_id":"ENSG00000117222"}}},"hgnc_date_symbol_changed":"1995-05-30"},"entity_type":"gene","entity_name":"RBBP5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39036895"],"evidence":["Expert Review Green","Literature"],"phenotypes":["neurodevelopmental disorder MONDO:0700092, RBBP5-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":"1.4796","version_created":"2026-04-26T17:41:46.661582+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DKFZp434H2226"],"biotype":"protein_coding","hgnc_id":"HGNC:25287","gene_name":"LMBR1 domain containing 2","omim_gene":null,"alias_name":null,"gene_symbol":"LMBRD2","hgnc_symbol":"LMBRD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:36098514-36152063","ensembl_id":"ENSG00000164187"}},"GRch38":{"90":{"location":"5:36098412-36151961","ensembl_id":"ENSG00000164187"}}},"hgnc_date_symbol_changed":"2005-07-25"},"entity_type":"gene","entity_name":"LMBRD2","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":["32820033","https://doi.org/10.1101/797787"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental delay with variable neurologic and brain abnormalities, MIM# 619694","Global developmental delay","Intellectual disability","Microcephaly","Seizures","Abnormality of nervous system morphology","Abnormality of the eye"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4796","version_created":"2026-04-26T17:41:46.661582+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["p21","pp21","SIIR","P21","WEX9"],"biotype":"protein_coding","hgnc_id":"HGNC:11616","gene_name":"transcription elongation factor A like 1","omim_gene":["300237"],"alias_name":null,"gene_symbol":"TCEAL1","hgnc_symbol":"TCEAL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:102883632-102885881","ensembl_id":"ENSG00000172465"}},"GRch38":{"90":{"location":"X:103628704-103630953","ensembl_id":"ENSG00000172465"}}},"hgnc_date_symbol_changed":"1998-09-21"},"entity_type":"gene","entity_name":"TCEAL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 36368327"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4796","version_created":"2026-04-26T17:41:46.661582+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["U2AF65"],"biotype":"protein_coding","hgnc_id":"HGNC:23156","gene_name":"U2 small nuclear RNA auxiliary factor 2","omim_gene":["191318"],"alias_name":["U2 small nuclear ribonucleoprotein auxiliary factor (65kD)","splicing factor U2AF 65 kD subunit","U2 snRNP auxiliary factor large subunit"],"gene_symbol":"U2AF2","hgnc_symbol":"U2AF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:56165512-56186081","ensembl_id":"ENSG00000063244"}},"GRch38":{"90":{"location":"19:55654146-55674715","ensembl_id":"ENSG00000063244"}}},"hgnc_date_symbol_changed":"2003-10-28"},"entity_type":"gene","entity_name":"U2AF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34112922","37092751","36747105","37134193"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental delay, dysmorphic facies, and brain anomalies, MIM#\t620535"],"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":"1.4796","version_created":"2026-04-26T17:41:46.661582+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MDS010","MGC32995","9630046K23Rik","MDSRP","hCLP46","KDELCL1","Rumi"],"biotype":"protein_coding","hgnc_id":"HGNC:22954","gene_name":"protein O-glucosyltransferase 1","omim_gene":["615618"],"alias_name":["KDELC family like 1"],"gene_symbol":"POGLUT1","hgnc_symbol":"POGLUT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:119187785-119213555","ensembl_id":"ENSG00000163389"}},"GRch38":{"90":{"location":"3:119468938-119494708","ensembl_id":"ENSG00000163389"}}},"hgnc_date_symbol_changed":"2010-09-29"},"entity_type":"gene","entity_name":"POGLUT1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33861953"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Muscular dystrophy, MONDO:0020121, POGLUT1-related"],"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":["LGMD2N"],"biotype":"protein_coding","hgnc_id":"HGNC:19743","gene_name":"protein O-mannosyltransferase 2","omim_gene":["607439"],"alias_name":["Dolichyl-phosphate-mannose--protein mannosyltransferase"],"gene_symbol":"POMT2","hgnc_symbol":"POMT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:77741299-77787227","ensembl_id":"ENSG00000009830"}},"GRch38":{"90":{"location":"14:77274956-77320884","ensembl_id":"ENSG00000009830"}}},"hgnc_date_symbol_changed":"2003-01-17"},"entity_type":"gene","entity_name":"POMT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:16410","gene_name":"DnaJ heat shock protein family (Hsp40) member C30","omim_gene":null,"alias_name":null,"gene_symbol":"DNAJC30","hgnc_symbol":"DNAJC30","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:73095299-73097783","ensembl_id":"ENSG00000176410"}},"GRch38":{"90":{"location":"7:73680969-73683453","ensembl_id":"ENSG00000176410"}}},"hgnc_date_symbol_changed":"2008-06-17"},"entity_type":"gene","entity_name":"DNAJC30","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33465056"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Leber Hereditary Optic Neuropathy, MIM#619382"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":149,"hash_id":null,"name":"Optic Atrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH and contains genes associated with isolated and complex optic atrophy.","status":"public","version":"1.72","version_created":"2026-03-31T18:57:17.873049+11:00","relevant_disorders":["Optic atrophy","HP:0000648"],"stats":{"number_of_genes":80,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1052","NPHP15"],"biotype":"protein_coding","hgnc_id":"HGNC:29182","gene_name":"centrosomal protein 164","omim_gene":["614848"],"alias_name":null,"gene_symbol":"CEP164","hgnc_symbol":"CEP164","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:117185273-117283984","ensembl_id":"ENSG00000110274"}},"GRch38":{"90":{"location":"11:117314557-117413268","ensembl_id":"ENSG00000110274"}}},"hgnc_date_symbol_changed":"2005-12-01"},"entity_type":"gene","entity_name":"CEP164","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34132027","34013113","32055034","27708425","22863007"],"evidence":["Expert Review Green","KidGen_CilioNephronop v38.1.0"],"phenotypes":["Bardet-Biedl syndrome","Nephronophthisis 15, MIM# 614845","Oro-facio-digital 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":["GRCC10","C10"],"biotype":"protein_coding","hgnc_id":"HGNC:29521","gene_name":"chromosome 12 open reading frame 57","omim_gene":["615140"],"alias_name":["gene rich cluster C10 gene"],"gene_symbol":"C12orf57","hgnc_symbol":"C12orf57","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:7052141-7055166","ensembl_id":"ENSG00000111678"}},"GRch38":{"90":{"location":"12:6942978-6946003","ensembl_id":"ENSG00000111678"}}},"hgnc_date_symbol_changed":"2006-01-27"},"entity_type":"gene","entity_name":"C12orf57","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29383837","31853307"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Temtamy syndrome MIM#218340"],"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":"1.412","version_created":"2026-04-26T17:44:15.608548+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1155,"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":["TRKB"],"biotype":"protein_coding","hgnc_id":"HGNC:8032","gene_name":"neurotrophic receptor tyrosine kinase 2","omim_gene":["600456"],"alias_name":null,"gene_symbol":"NTRK2","hgnc_symbol":"NTRK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:87283466-87638505","ensembl_id":"ENSG00000148053"}},"GRch38":{"90":{"location":"9:84668551-85027070","ensembl_id":"ENSG00000148053"}}},"hgnc_date_symbol_changed":"1991-07-18"},"entity_type":"gene","entity_name":"NTRK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29100083"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Epileptic encephalopathy, early infantile, 58, MIM#\t617830"],"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":"1.412","version_created":"2026-04-26T17:44:15.608548+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1155,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["COX11P"],"biotype":"protein_coding","hgnc_id":"HGNC:2261","gene_name":"COX11, cytochrome c oxidase copper chaperone","omim_gene":["603648"],"alias_name":["cytochrome c oxidase subunit 11","cytochrome c oxidase assembly protein COX11"],"gene_symbol":"COX11","hgnc_symbol":"COX11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:53029263-53046146","ensembl_id":"ENSG00000166260"}},"GRch38":{"90":{"location":"17:54951902-54968785","ensembl_id":"ENSG00000166260"}}},"hgnc_date_symbol_changed":"1998-07-03"},"entity_type":"gene","entity_name":"COX11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36030551"],"evidence":["Expert Review Green","Expert Review Green","Literature","Literature"],"phenotypes":["Mitochondrial disease (MONDO:0044970), COX11-related"],"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":"1.412","version_created":"2026-04-26T17:44:15.608548+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1155,"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":["B14.7"],"biotype":"protein_coding","hgnc_id":"HGNC:20371","gene_name":"NADH:ubiquinone oxidoreductase subunit A11","omim_gene":["612638"],"alias_name":["complex I B14.7 subunit"],"gene_symbol":"NDUFA11","hgnc_symbol":"NDUFA11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:5891287-5904017","ensembl_id":"ENSG00000174886"}},"GRch38":{"90":{"location":"19:5891276-5904006","ensembl_id":"ENSG00000174886"}}},"hgnc_date_symbol_changed":"2003-12-03"},"entity_type":"gene","entity_name":"NDUFA11","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["18306244","31074871"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 14, MIM#618236"],"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":["FLJ12660","IND1","huInd1"],"biotype":"protein_coding","hgnc_id":"HGNC:20278","gene_name":"nucleotide binding protein like","omim_gene":["613621"],"alias_name":["iron-sulfur protein required for NADH dehydrogenase"],"gene_symbol":"NUBPL","hgnc_symbol":"NUBPL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:31959162-32330430","ensembl_id":"ENSG00000151413"}},"GRch38":{"90":{"location":"14:31489956-31861224","ensembl_id":"ENSG00000151413"}}},"hgnc_date_symbol_changed":"2005-01-07"},"entity_type":"gene","entity_name":"NUBPL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20818383","32518176","23553477","31917109","32518176","31787496","30897263","22826544"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242"],"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":["KIAA1416","FLJ20357","FLJ20361"],"biotype":"protein_coding","hgnc_id":"HGNC:20626","gene_name":"chromodomain helicase DNA binding protein 7","omim_gene":["608892"],"alias_name":null,"gene_symbol":"CHD7","hgnc_symbol":"CHD7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:61591337-61779465","ensembl_id":"ENSG00000171316"}},"GRch38":{"90":{"location":"8:60678778-60868028","ensembl_id":"ENSG00000171316"}}},"hgnc_date_symbol_changed":"2004-06-22"},"entity_type":"gene","entity_name":"CHD7","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 is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"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":["Kv7.4"],"biotype":"protein_coding","hgnc_id":"HGNC:6298","gene_name":"potassium voltage-gated channel subfamily Q member 4","omim_gene":["603537"],"alias_name":null,"gene_symbol":"KCNQ4","hgnc_symbol":"KCNQ4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:41249684-41306124","ensembl_id":"ENSG00000117013"}},"GRch38":{"90":{"location":"1:40784012-40840452","ensembl_id":"ENSG00000117013"}}},"hgnc_date_symbol_changed":"1999-02-05"},"entity_type":"gene","entity_name":"KCNQ4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10369879"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal dominant 2A, MIM# 600101"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD132"],"biotype":"protein_coding","hgnc_id":"HGNC:6010","gene_name":"interleukin 2 receptor subunit gamma","omim_gene":["308380"],"alias_name":null,"gene_symbol":"IL2RG","hgnc_symbol":"IL2RG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:70327254-70331958","ensembl_id":"ENSG00000147168"}},"GRch38":{"90":{"location":"X:71107404-71112108","ensembl_id":"ENSG00000147168"}}},"hgnc_date_symbol_changed":"1992-11-30"},"entity_type":"gene","entity_name":"IL2RG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301584","8462096","8401490","7883965","9399950"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Combined immunodeficiency, X-linked, moderate MIM# 312863","Severe combined immunodeficiency, X-linked MIM# 300400","recurrent viral/fungal/bacterial infections","Low T/NK cells","Low Ig levels","lymphocytopaenia","hypogammaglobulinaemia","failure to thrive","diarrhoea","Pneumonia","Thymic hypoplasia"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.145","version_created":"2026-03-02T21:55:19.238904+11:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CPAMD4","C5a","C5b"],"biotype":"protein_coding","hgnc_id":"HGNC:1331","gene_name":"complement C5","omim_gene":["120900"],"alias_name":["prepro-C5","C5a anaphylatoxin"],"gene_symbol":"C5","hgnc_symbol":"C5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:123714616-123812554","ensembl_id":"ENSG00000106804"}},"GRch38":{"90":{"location":"9:120952335-121050276","ensembl_id":"ENSG00000106804"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"C5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23743184","15488949","15778377","23371790"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["C5 deficiency MIM#609536"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":224,"hash_id":null,"name":"Complement Deficiencies","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains all the genes that are associated with complement deficiencies.\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.2","version_created":"2025-10-30T13:50:05.331358+11:00","relevant_disorders":["Abnormality of complement system","HP:0005339"],"stats":{"number_of_genes":34,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TYKY","CI-23k"],"biotype":"protein_coding","hgnc_id":"HGNC:7715","gene_name":"NADH:ubiquinone oxidoreductase core subunit S8","omim_gene":["602141"],"alias_name":["complex I 23kDa subunit","NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial"],"gene_symbol":"NDUFS8","hgnc_symbol":"NDUFS8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:67798084-67804111","ensembl_id":"ENSG00000110717"}},"GRch38":{"90":{"location":"11:68030617-68036644","ensembl_id":"ENSG00000110717"}}},"hgnc_date_symbol_changed":"1996-07-26"},"entity_type":"gene","entity_name":"NDUFS8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23430795","9837812","15159508","22499348","20818383","20819849"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 2 MIM#618222"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.760","version_created":"2026-04-26T17:50:23.271073+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MLLT2-like"],"biotype":"protein_coding","hgnc_id":"HGNC:6473","gene_name":"AF4/FMR2 family member 3","omim_gene":["601464"],"alias_name":null,"gene_symbol":"AFF3","hgnc_symbol":"AFF3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:100162323-100759201","ensembl_id":"ENSG00000144218"}},"GRch38":{"90":{"location":"2:99545419-100142739","ensembl_id":"ENSG00000144218"}}},"hgnc_date_symbol_changed":"2005-06-27"},"entity_type":"gene","entity_name":"AFF3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31388108","33961779"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["KINSSHIP syndrome, MIM# 619297"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.760","version_created":"2026-04-26T17:50:23.271073+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["APCL"],"biotype":"protein_coding","hgnc_id":"HGNC:24036","gene_name":"APC2, WNT signaling pathway regulator","omim_gene":["612034"],"alias_name":["adenomatous polyposis coli like"],"gene_symbol":"APC2","hgnc_symbol":"APC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:1446300-1473243","ensembl_id":"ENSG00000115266"}},"GRch38":{"90":{"location":"19:1446302-1473244","ensembl_id":"ENSG00000115266"}}},"hgnc_date_symbol_changed":"2004-03-18"},"entity_type":"gene","entity_name":"APC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31585108"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cortical dysplasia, complex, with other brain malformations 10, MIM#618677"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.760","version_created":"2026-04-26T17:50:23.271073+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC4293"],"biotype":"protein_coding","hgnc_id":"HGNC:28662","gene_name":"deoxyhypusine hydroxylase","omim_gene":["611262"],"alias_name":null,"gene_symbol":"DOHH","hgnc_symbol":"DOHH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:3490819-3500938","ensembl_id":"ENSG00000129932"}},"GRch38":{"90":{"location":"19:3490822-3500940","ensembl_id":"ENSG00000129932"}}},"hgnc_date_symbol_changed":"2006-05-22"},"entity_type":"gene","entity_name":"DOHH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 35858628"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.760","version_created":"2026-04-26T17:50:23.271073+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC25181","D2HGD","FLJ42195"],"biotype":"protein_coding","hgnc_id":"HGNC:28358","gene_name":"D-2-hydroxyglutarate dehydrogenase","omim_gene":["609186"],"alias_name":null,"gene_symbol":"D2HGDH","hgnc_symbol":"D2HGDH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:242673994-242708231","ensembl_id":"ENSG00000180902"}},"GRch38":{"90":{"location":"2:241734579-241768816","ensembl_id":"ENSG00000180902"}}},"hgnc_date_symbol_changed":"2006-03-09"},"entity_type":"gene","entity_name":"D2HGDH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15609246","16081310","31349060","20020533","38825343"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["D-2-hydroxyglutaric aciduria MIM#600721"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.760","version_created":"2026-04-26T17:50:23.271073+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC33211","DKFZP667C165"],"biotype":"protein_coding","hgnc_id":"HGNC:25387","gene_name":"katanin catalytic subunit A1 like 2","omim_gene":["614697"],"alias_name":null,"gene_symbol":"KATNAL2","hgnc_symbol":"KATNAL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:44497455-44627658","ensembl_id":"ENSG00000167216"}},"GRch38":{"90":{"location":"18:46917492-47102243","ensembl_id":"ENSG00000167216"}}},"hgnc_date_symbol_changed":"2005-01-14"},"entity_type":"gene","entity_name":"KATNAL2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22495311","21572417","22495309","22495306"],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":["Autism"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.760","version_created":"2026-04-26T17:50:23.271073+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["bHLHb37"],"biotype":"protein_coding","hgnc_id":"HGNC:15977","gene_name":"hes family bHLH transcription factor 7","omim_gene":["608059"],"alias_name":["bHLH factor Hes7"],"gene_symbol":"HES7","hgnc_symbol":"HES7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:8023908-8027410","ensembl_id":"ENSG00000179111"}},"GRch38":{"90":{"location":"17:8120590-8124092","ensembl_id":"ENSG00000179111"}}},"hgnc_date_symbol_changed":"2001-06-28"},"entity_type":"gene","entity_name":"HES7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Spondylocostal dysostosis 4, autosomal recessive 613686"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.433","version_created":"2026-04-23T20:38:03.561440+10:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":7},"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":["AST","SD","ISSD","NSD","SIALIN","SLD"],"biotype":"protein_coding","hgnc_id":"HGNC:10933","gene_name":"solute carrier family 17 member 5","omim_gene":["604322"],"alias_name":null,"gene_symbol":"SLC17A5","hgnc_symbol":"SLC17A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:74303102-74363878","ensembl_id":"ENSG00000119899"}},"GRch38":{"90":{"location":"6:73593379-73654155","ensembl_id":"ENSG00000119899"}}},"hgnc_date_symbol_changed":"2000-01-06"},"entity_type":"gene","entity_name":"SLC17A5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["16417876"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Salla disease\t604369","Sialic acid storage disorder, infantile\t269920"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ22329"],"biotype":"protein_coding","hgnc_id":"HGNC:26182","gene_name":"collagen beta(1-O)galactosyltransferase 1","omim_gene":["617531"],"alias_name":["Procollagen galactosyltransferase","Hydroxylysine galactosyltransferase"],"gene_symbol":"COLGALT1","hgnc_symbol":"COLGALT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:17666403-17693971","ensembl_id":"ENSG00000130309"}},"GRch38":{"90":{"location":"19:17555594-17583162","ensembl_id":"ENSG00000130309"}}},"hgnc_date_symbol_changed":"2013-02-27"},"entity_type":"gene","entity_name":"COLGALT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30412317","33709034","31759980"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Brain small vessel disease 3 MIM#618360"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1766","MTMR13","DENND7B"],"biotype":"protein_coding","hgnc_id":"HGNC:2135","gene_name":"SET binding factor 2","omim_gene":["607697"],"alias_name":["myotubularin related 13"],"gene_symbol":"SBF2","hgnc_symbol":"SBF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:9800214-10315754","ensembl_id":"ENSG00000133812"}},"GRch38":{"90":{"location":"11:9778667-10294207","ensembl_id":"ENSG00000133812"}}},"hgnc_date_symbol_changed":"2004-11-12"},"entity_type":"gene","entity_name":"SBF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12554688","15477569","12687498","15304601","31772832","31070812"],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green"],"phenotypes":["HMSN","Charcot Marie Tooth disease, type 4B2, MIM#604563"],"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":["TRNS2","RP8"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7498","gene_name":"mitochondrially encoded tRNA serine 2 (AGU/C)","omim_gene":["590085"],"alias_name":null,"gene_symbol":"MT-TS2","hgnc_symbol":"MT-TS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:12207-12265","ensembl_id":"ENSG00000210184"}},"GRch38":{"90":{"location":"MT:12207-12265","ensembl_id":"ENSG00000210184"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["9792552","10090882","16950817","21257182","22369973","22378285"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TS2-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"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":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"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":["TRK","TRKA","MTC"],"biotype":"protein_coding","hgnc_id":"HGNC:8031","gene_name":"neurotrophic receptor tyrosine kinase 1","omim_gene":["191315"],"alias_name":["high affinity nerve growth factor receptor"],"gene_symbol":"NTRK1","hgnc_symbol":"NTRK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:156785432-156851642","ensembl_id":"ENSG00000198400"}},"GRch38":{"90":{"location":"1:156815640-156881850","ensembl_id":"ENSG00000198400"}}},"hgnc_date_symbol_changed":"1991-07-18"},"entity_type":"gene","entity_name":"NTRK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11668614","8696348","18077166"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["HSAN 4","Insensitivity to pain, congenital, with anhidrosis, 256800","Hereditary sensory neuropathy type IV"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3126,"hash_id":null,"name":"Pain syndromes","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Mendelian disorders of pain perception, including insensitivity to pain or increased pain perception, with thanks to Genomics England PanelApp.","status":"public","version":"0.38","version_created":"2026-02-22T15:47:27.675595+11:00","relevant_disorders":["Pain","HP:0012531"],"stats":{"number_of_genes":31,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["B17","C2TA","DKFZP434M035"],"biotype":"protein_coding","hgnc_id":"HGNC:2993","gene_name":"downstream neighbor of SON","omim_gene":["611428"],"alias_name":null,"gene_symbol":"DONSON","hgnc_symbol":"DONSON","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:34931848-34961014","ensembl_id":"ENSG00000159147"}},"GRch38":{"90":{"location":"21:33559542-33588708","ensembl_id":"ENSG00000159147"}}},"hgnc_date_symbol_changed":"2000-02-18"},"entity_type":"gene","entity_name":"DONSON","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Microcephaly, short stature, and limb abnormalities, 617604 (3), Autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNF74","MGC43321"],"biotype":"protein_coding","hgnc_id":"HGNC:9831","gene_name":"recombination activating 1","omim_gene":["179615"],"alias_name":["recombination activating protein 1","RING finger protein 74","V(D)J recombination-activating protein 1"],"gene_symbol":"RAG1","hgnc_symbol":"RAG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:36532259-36614706","ensembl_id":"ENSG00000166349"}},"GRch38":{"90":{"location":"11:36510709-36593156","ensembl_id":"ENSG00000166349"}}},"hgnc_date_symbol_changed":"1990-06-18"},"entity_type":"gene","entity_name":"RAG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Severe combined immunodeficiency, B cell-negative, 601457 (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. 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The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TEL"],"biotype":"protein_coding","hgnc_id":"HGNC:3495","gene_name":"ETS variant 6","omim_gene":["600618"],"alias_name":["TEL oncogene"],"gene_symbol":"ETV6","hgnc_symbol":"ETV6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:11802788-12048336","ensembl_id":"ENSG00000139083"}},"GRch38":{"90":{"location":"12:11649854-11895402","ensembl_id":"ENSG00000139083"}}},"hgnc_date_symbol_changed":"1995-11-28"},"entity_type":"gene","entity_name":"ETV6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NSW Health Pathology","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3437,"hash_id":null,"name":"Incidentalome_PREGEN_DRAFT","disease_group":"","disease_sub_group":"","description":"Imported to facilitate update work. Do not use while labeled as DRAFT","status":"public","version":"0.43","version_created":"2021-01-20T16:42:09.286633+11:00","relevant_disorders":[],"stats":{"number_of_genes":173,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LCB1","SPTI","HSAN1","hLCB1"],"biotype":"protein_coding","hgnc_id":"HGNC:11277","gene_name":"serine palmitoyltransferase long chain base subunit 1","omim_gene":["605712"],"alias_name":null,"gene_symbol":"SPTLC1","hgnc_symbol":"SPTLC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:94794281-94877666","ensembl_id":"ENSG00000090054"}},"GRch38":{"90":{"location":"9:92031999-92115384","ensembl_id":"ENSG00000090054"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"SPTLC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27604308","20097765","21618344","20097765","30420926"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Neuropathy, hereditary sensory and autonomic, type IA, MIM#\t162400","Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["FLJ31300","HMFN0320"],"biotype":"protein_coding","hgnc_id":"HGNC:26444","gene_name":"urocanate hydratase 1","omim_gene":["613012"],"alias_name":["urocanase 1"],"gene_symbol":"UROC1","hgnc_symbol":"UROC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:126200124-126236616","ensembl_id":"ENSG00000159650"}},"GRch38":{"90":{"location":"3:126481281-126517773","ensembl_id":"ENSG00000159650"}}},"hgnc_date_symbol_changed":"2005-02-07"},"entity_type":"gene","entity_name":"UROC1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["19304569","30619714"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Urocanase deficiency, MIM#276880"],"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":["FLJ38144","hang"],"biotype":"protein_coding","hgnc_id":"HGNC:24750","gene_name":"zinc finger protein 699","omim_gene":["609571"],"alias_name":null,"gene_symbol":"ZNF699","hgnc_symbol":"ZNF699","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:9404951-9420514","ensembl_id":"ENSG00000196110"}},"GRch38":{"90":{"location":"19:9294275-9309838","ensembl_id":"ENSG00000196110"}}},"hgnc_date_symbol_changed":"2005-08-11"},"entity_type":"gene","entity_name":"ZNF699","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33875846"],"evidence":["Expert Review Green","Literature"],"phenotypes":["DEGCAGS syndrome, MIM# 619488"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.104","version_created":"2026-04-26T12:53:45.051003+10:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DKFZP586M0122","FLJ21915","RPO1-4","RPA1"],"biotype":"protein_coding","hgnc_id":"HGNC:17264","gene_name":"RNA polymerase I subunit A","omim_gene":["616404"],"alias_name":null,"gene_symbol":"POLR1A","hgnc_symbol":"POLR1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:86247339-86333278","ensembl_id":"ENSG00000068654"}},"GRch38":{"90":{"location":"2:86020216-86106155","ensembl_id":"ENSG00000068654"}}},"hgnc_date_symbol_changed":"2003-04-01"},"entity_type":"gene","entity_name":"POLR1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Acrofacial dysostosis, Cincinnati type 616462"],"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":["p300","KAT3B"],"biotype":"protein_coding","hgnc_id":"HGNC:3373","gene_name":"E1A binding protein p300","omim_gene":["602700"],"alias_name":["histone acetyltransferase p300"],"gene_symbol":"EP300","hgnc_symbol":"EP300","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:41487790-41576081","ensembl_id":"ENSG00000100393"}},"GRch38":{"90":{"location":"22:41091786-41180079","ensembl_id":"ENSG00000100393"}}},"hgnc_date_symbol_changed":"1998-07-31"},"entity_type":"gene","entity_name":"EP300","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29506490","29460469"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Rubinstein-Taybi syndrome 2, MIM# 613684","Menke-Hennekam syndrome , MIM#2 618333"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FBLN4","UPH1"],"biotype":"protein_coding","hgnc_id":"HGNC:3219","gene_name":"EGF containing fibulin extracellular matrix protein 2","omim_gene":["604633"],"alias_name":["fibulin 4"],"gene_symbol":"EFEMP2","hgnc_symbol":"EFEMP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65633912-65641063","ensembl_id":"ENSG00000172638"}},"GRch38":{"90":{"location":"11:65866441-65873592","ensembl_id":"ENSG00000172638"}}},"hgnc_date_symbol_changed":"2000-03-01"},"entity_type":"gene","entity_name":"EFEMP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30140196","23532871","31548410","19664000"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4006","gene_name":"alpha-L-fucosidase 1","omim_gene":["612280"],"alias_name":["α-L-fucosidase 1","tissue fucosidase","a-L-fucosidase 1"],"gene_symbol":"FUCA1","hgnc_symbol":"FUCA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:24171567-24194784","ensembl_id":"ENSG00000179163"}},"GRch38":{"90":{"location":"1:23845077-23868294","ensembl_id":"ENSG00000179163"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"FUCA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Fucosidosis, MIM# 230000"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PNK"],"biotype":"protein_coding","hgnc_id":"HGNC:9154","gene_name":"polynucleotide kinase 3'-phosphatase","omim_gene":["605610"],"alias_name":null,"gene_symbol":"PNKP","hgnc_symbol":"PNKP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:50364461-50371166","ensembl_id":"ENSG00000039650"}},"GRch38":{"90":{"location":"19:49859882-49878351","ensembl_id":"ENSG00000039650"}}},"hgnc_date_symbol_changed":"1999-12-22"},"entity_type":"gene","entity_name":"PNKP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31436889","31707899","20118933","23224214","29243230","2578773","27066567"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Charcot-Marie-Tooth disease, type 2B2  MIM#605589","Ataxia-oculomotor apraxia 4 MIM#616267","Microcephaly, seizures, and developmental delay MIM#613402"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3661","gene_name":"fibrinogen alpha chain","omim_gene":["134820"],"alias_name":null,"gene_symbol":"FGA","hgnc_symbol":"FGA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:155504278-155511918","ensembl_id":"ENSG00000171560"}},"GRch38":{"90":{"location":"4:154583126-154590766","ensembl_id":"ENSG00000171560"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"FGA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Afibrinogenemia, congenital, 202400 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:14544","gene_name":"WNK lysine deficient protein kinase 4","omim_gene":["601844"],"alias_name":null,"gene_symbol":"WNK4","hgnc_symbol":"WNK4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40932696-40948954","ensembl_id":"ENSG00000126562"}},"GRch38":{"90":{"location":"17:42780678-42796936","ensembl_id":"ENSG00000126562"}}},"hgnc_date_symbol_changed":"2005-01-19"},"entity_type":"gene","entity_name":"WNK4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 22073419, PMID: 31795491, PMID: 10869238,"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Pseudohypoaldosteronism, type IIB MIM#614491"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GCSP","NKH"],"biotype":"protein_coding","hgnc_id":"HGNC:4313","gene_name":"glycine decarboxylase","omim_gene":["238300"],"alias_name":["glycine cleavage system protein P","glycine dehydrogenase"],"gene_symbol":"GLDC","hgnc_symbol":"GLDC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:6532464-6645650","ensembl_id":"ENSG00000178445"}},"GRch38":{"90":{"location":"9:6532464-6645783","ensembl_id":"ENSG00000178445"}}},"hgnc_date_symbol_changed":"1992-04-08"},"entity_type":"gene","entity_name":"GLDC","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["16404748","34513771","35683414"],"evidence":["Expert Review Amber","BabySeq Category A gene"],"phenotypes":["Glycine encephalopathy, MIM# 605899"],"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":["DUP","RIS2"],"biotype":"protein_coding","hgnc_id":"HGNC:24576","gene_name":"chromatin licensing and DNA replication factor 1","omim_gene":["605525"],"alias_name":null,"gene_symbol":"CDT1","hgnc_symbol":"CDT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:88869621-88875666","ensembl_id":"ENSG00000167513"}},"GRch38":{"90":{"location":"16:88803213-88809258","ensembl_id":"ENSG00000167513"}}},"hgnc_date_symbol_changed":"2006-05-25"},"entity_type":"gene","entity_name":"CDT1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22333897","21358632","21358631","33338304"],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Meier-Gorlin syndrome 4, MIM# 613804","MONDO:0013431"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["QP-C","QCR7","UQCR6"],"biotype":"protein_coding","hgnc_id":"HGNC:12582","gene_name":"ubiquinol-cytochrome c reductase binding protein","omim_gene":["191330"],"alias_name":["ubiquinol-cytochrome c reductase, complex III subunit VI","cytochrome b-c1 complex subunit 7"],"gene_symbol":"UQCRB","hgnc_symbol":"UQCRB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:97238148-97247862","ensembl_id":"ENSG00000156467"}},"GRch38":{"90":{"location":"8:96225920-96235634","ensembl_id":"ENSG00000156467"}}},"hgnc_date_symbol_changed":"1991-08-20"},"entity_type":"gene","entity_name":"UQCRB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Mitochondrial complex III deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["merlin","ACN","SCH","BANF"],"biotype":"protein_coding","hgnc_id":"HGNC:7773","gene_name":"neurofibromin 2","omim_gene":["607379"],"alias_name":["moesin-ezrin-radixin like","schwannomin"],"gene_symbol":"NF2","hgnc_symbol":"NF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:29999545-30094587","ensembl_id":"ENSG00000186575"}},"GRch38":{"90":{"location":"22:29603556-29698598","ensembl_id":"ENSG00000186575"}}},"hgnc_date_symbol_changed":"1992-01-01"},"entity_type":"gene","entity_name":"NF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance"],"phenotypes":["Neurofibromatosis, type 2, MIM# 101000"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TNSALP"],"biotype":"protein_coding","hgnc_id":"HGNC:438","gene_name":"alkaline phosphatase, liver/bone/kidney","omim_gene":["171760"],"alias_name":null,"gene_symbol":"ALPL","hgnc_symbol":"ALPL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:21835858-21904905","ensembl_id":"ENSG00000162551"}},"GRch38":{"90":{"location":"1:21509372-21578412","ensembl_id":"ENSG00000162551"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ALPL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["disorder of bone metabolism","Hypophosphatasia"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp761P0710","KIAA0686","FEB4","VLGR1"],"biotype":"protein_coding","hgnc_id":"HGNC:17416","gene_name":"adhesion G protein-coupled receptor V1","omim_gene":["602851"],"alias_name":null,"gene_symbol":"ADGRV1","hgnc_symbol":"ADGRV1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:89825161-90460038","ensembl_id":"ENSG00000164199"}},"GRch38":{"90":{"location":"5:90529344-91164437","ensembl_id":"ENSG00000164199"}}},"hgnc_date_symbol_changed":"2015-03-03"},"entity_type":"gene","entity_name":"ADGRV1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19357117"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Usher syndrome, type 2C, MIM# 605472"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.1","version_created":"2026-04-24T17:01:18.976102+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9586","gene_name":"patched 2","omim_gene":["603673"],"alias_name":null,"gene_symbol":"PTCH2","hgnc_symbol":"PTCH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45285516-45308735","ensembl_id":"ENSG00000117425"}},"GRch38":{"90":{"location":"1:44819844-44843063","ensembl_id":"ENSG00000117425"}}},"hgnc_date_symbol_changed":"1998-10-19"},"entity_type":"gene","entity_name":"PTCH2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 34170463, 18285427, 23479190, 30820324, 38354379"],"evidence":["Expert Review Red","Expert Review","Literature"],"phenotypes":["Basal cell carcinoma, MONDO:0020804","Nevoid basal cell carcinoma syndrome, MONDO:0007187"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4360,"hash_id":null,"name":"Basal Cell Cancer","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with basal cell cancer. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with basal cell cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.1","version_created":"2024-11-01T16:26:31.314601+11:00","relevant_disorders":[],"stats":{"number_of_genes":3,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DP2","DP3","DP2.5","PPP1R46"],"biotype":"protein_coding","hgnc_id":"HGNC:583","gene_name":"APC, WNT signaling pathway regulator","omim_gene":["611731"],"alias_name":["protein phosphatase 1, regulatory subunit 46"],"gene_symbol":"APC","hgnc_symbol":"APC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:112043195-112181936","ensembl_id":"ENSG00000134982"}},"GRch38":{"90":{"location":"5:112707498-112846239","ensembl_id":"ENSG00000134982"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"APC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Thyroid cancer, MONDO:0002108","Thyroid gland papillary carcinoma, MONDO:0005075","Familial adenomatous polyposis 1, MONDO:0021056","Adenomatous polyposis coli, MIM#175100"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4362,"hash_id":null,"name":"Thyroid Cancer","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with thyroid cancer. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with thyroid cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.1","version_created":"2024-11-01T16:36:20.733311+11:00","relevant_disorders":[],"stats":{"number_of_genes":6,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ20315","DKFZp781H0392","URCC"],"biotype":"protein_coding","hgnc_id":"HGNC:18505","gene_name":"ring finger protein 43","omim_gene":["612482"],"alias_name":null,"gene_symbol":"RNF43","hgnc_symbol":"RNF43","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:56429861-56494956","ensembl_id":"ENSG00000108375"}},"GRch38":{"90":{"location":"17:58352500-58417595","ensembl_id":"ENSG00000108375"}}},"hgnc_date_symbol_changed":"2002-04-18"},"entity_type":"gene","entity_name":"RNF43","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 24512911, 34541672, 27329244, 27081527, 29330307"],"evidence":["Expert Review Green","Literature","Expert Review","Expert list"],"phenotypes":["Colorectal cancer, MONDO:0005575","Polyposis, MONDO:0000147","Sessile serrated polyposis cancer syndrome, MONDO:0014919","Sessile serrated polyposis cancer syndrome, MIM#617108"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4371,"hash_id":null,"name":"Colorectal Cancer and Polyposis","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.4","version_created":"2025-11-20T12:31:46.390137+11:00","relevant_disorders":[],"stats":{"number_of_genes":22,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HBLP1","VRP","AD3","GRAMD8"],"biotype":"protein_coding","hgnc_id":"HGNC:17791","gene_name":"TBC1 domain family member 8","omim_gene":null,"alias_name":["BUB2-like protein 1","vascular Rab-GAP/TBC-containing protein"],"gene_symbol":"TBC1D8","hgnc_symbol":"TBC1D8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:101624079-101869328","ensembl_id":"ENSG00000204634"}},"GRch38":{"90":{"location":"2:101007617-101252866","ensembl_id":"ENSG00000204634"}}},"hgnc_date_symbol_changed":"2003-05-19"},"entity_type":"gene","entity_name":"TBC1D8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["41556581"],"evidence":["Literature","Expert Review Green","Expert Review Green","Literature"],"phenotypes":["non obstructive azoospermia or cryptozoospermia MONDO:0005372"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.149","version_created":"2026-04-26T14:05:44.766760+10:00","relevant_disorders":[],"stats":{"number_of_genes":266,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1463","FLJ34278"],"biotype":"protein_coding","hgnc_id":"HGNC:29284","gene_name":"disco interacting protein 2 homolog B","omim_gene":["611379"],"alias_name":null,"gene_symbol":"DIP2B","hgnc_symbol":"DIP2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:50898768-51142450","ensembl_id":"ENSG00000066084"}},"GRch38":{"90":{"location":"12:50504985-50748667","ensembl_id":"ENSG00000066084"}}},"hgnc_date_symbol_changed":"2006-01-13"},"entity_type":"str","entity_name":"DIP2B_FRA12A_CGG","confidence_level":"2","penetrance":null,"publications":["17236128","33510257","39854091","41028987"],"evidence":["Expert Review Amber","Other"],"phenotypes":["Mental retardation, FRA12A type MIM#136630"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CGG","chromosome":"12","grch37_coordinates":[50898787,50898807],"grch38_coordinates":[50505004,50505024],"normal_repeats":23,"pathogenic_repeats":280,"tags":["5'UTR"],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.760","version_created":"2026-04-26T17:50:23.271073+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}}]}