{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=37","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=35","results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:613","gene_name":"apolipoprotein E","omim_gene":["107741"],"alias_name":null,"gene_symbol":"APOE","hgnc_symbol":"APOE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:45409011-45412650","ensembl_id":"ENSG00000130203"}},"GRch38":{"90":{"location":"19:44905754-44909393","ensembl_id":"ENSG00000130203"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"APOE","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Alzheimer disease 2, MIM# 104310"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":24,"hash_id":null,"name":"Early-onset Dementia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause frontotemporal dementia (FTD), Alzheimer's disease, other forms of dementia, and adult-onset cognitive decline. 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impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne 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Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1119"],"biotype":"protein_coding","hgnc_id":"HGNC:7603","gene_name":"myosin VB","omim_gene":["606540"],"alias_name":null,"gene_symbol":"MYO5B","hgnc_symbol":"MYO5B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:47349183-47721463","ensembl_id":"ENSG00000167306"}},"GRch38":{"90":{"location":"18:49822813-50195093","ensembl_id":"ENSG00000167306"}}},"hgnc_date_symbol_changed":"1996-04-04"},"entity_type":"gene","entity_name":"MYO5B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28027573","27532546","33525641"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Microvillus inclusion disease, MIM#251850","Cholestasis, progressive familial intrahepatic, 10, MIM# 619868"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":78,"hash_id":null,"name":"Cholestasis","disease_group":"Gastroenterological 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phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC33196","KIAA1336","IFT121","IFTA1"],"biotype":"protein_coding","hgnc_id":"HGNC:29250","gene_name":"WD repeat domain 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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":["FLJ23191"],"biotype":"protein_coding","hgnc_id":"HGNC:26256","gene_name":"neuron derived neurotrophic factor","omim_gene":["616506"],"alias_name":null,"gene_symbol":"NDNF","hgnc_symbol":"NDNF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:121956768-121994176","ensembl_id":"ENSG00000173376"}},"GRch38":{"90":{"location":"4:121035613-121073021","ensembl_id":"ENSG00000173376"}}},"hgnc_date_symbol_changed":"2011-07-05"},"entity_type":"gene","entity_name":"NDNF","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["31883645","40788466","36454653"],"evidence":["Literature","Expert Review Amber","Literature"],"phenotypes":["Hypogonadotropic hypogonadism 25 with anosmia MIM#618841"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":99,"hash_id":null,"name":"Differences of Sex Development","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.47","version_created":"2026-04-06T10:50:25.990411+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":141,"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":["nNOS"],"biotype":"protein_coding","hgnc_id":"HGNC:7872","gene_name":"nitric oxide synthase 1","omim_gene":["163731"],"alias_name":null,"gene_symbol":"NOS1","hgnc_symbol":"NOS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:117645947-117889975","ensembl_id":"ENSG00000089250"}},"GRch38":{"90":{"location":"12:117208142-117452170","ensembl_id":"ENSG00000089250"}}},"hgnc_date_symbol_changed":"1992-06-09"},"entity_type":"gene","entity_name":"NOS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36197968"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Hypogonadotropic hypogonadism, MONDO:0018555"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":99,"hash_id":null,"name":"Differences of Sex Development","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.47","version_created":"2026-04-06T10:50:25.990411+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":141,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6416","gene_name":"keratin 14","omim_gene":["148066"],"alias_name":["epidermolysis bullosa simplex, Dowling-Meara, Koebner"],"gene_symbol":"KRT14","hgnc_symbol":"KRT14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:39738531-39743173","ensembl_id":"ENSG00000186847"}},"GRch38":{"90":{"location":"17:41582279-41586921","ensembl_id":"ENSG00000186847"}}},"hgnc_date_symbol_changed":"1992-04-09"},"entity_type":"gene","entity_name":"KRT14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["16960809","18049449"],"evidence":["Expert Review Green","NHS GMS","Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Epidermolysis bullosa simplex, recessive 1, 601001","Dermatopathia pigmentosa reticularis, 125595","Epidermolysis bullosa simplex, Dowling-Meara type, 131760","Epidermolysis bullosa simplex, Koebner type, 131900","Epidermolysis bullosa simplex, Weber-Cockayne type, 131800","Naegeli-Franceschetti-Jadassohn syndrome, 161000"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":["MTPB"],"biotype":"protein_coding","hgnc_id":"HGNC:4803","gene_name":"hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta","omim_gene":["143450"],"alias_name":["mitochondrial trifunctional protein, beta subunit"],"gene_symbol":"HADHB","hgnc_symbol":"HADHB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:26466038-26513336","ensembl_id":"ENSG00000138029"}},"GRch38":{"90":{"location":"2:26243170-26290468","ensembl_id":"ENSG00000138029"}}},"hgnc_date_symbol_changed":"1994-12-16"},"entity_type":"gene","entity_name":"HADHB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30682426","28515471"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Trifunctional protein deficiency, MIM# 609015"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":103,"hash_id":null,"name":"Fatty Acid Oxidation Defects","disease_group":"Metabolic disorders","disease_sub_group":"","description":"Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism caused by disruption of either mitochondrial β-oxidation or the fatty acid transport using the carnitine transport pathway. The clinical presentation of a FAOD depends on the specific disorder, but commonly includes cardiomyopathy in the newborn period, liver dysfunction and hypoketotic hypoglycaemia during infancy and childhood, and episodic rhabdomyolysis during or after adolescence.\r\n\r\nThis panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt incorporates assessments by the ClinGen Fatty Acid Oxidation Disorders Working Group, McGlaughon et al 2019, PMID: 31399326.","status":"public","version":"1.15","version_created":"2025-11-20T16:48:15.748218+11:00","relevant_disorders":["Abnormal circulating fatty acid concentration","HP:0004359; Rhabdomyolysis","HP:0003201; Hypoglycaemia","HP:0001943"],"stats":{"number_of_genes":33,"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:2867","gene_name":"dihydroorotate dehydrogenase (quinone)","omim_gene":["126064"],"alias_name":null,"gene_symbol":"DHODH","hgnc_symbol":"DHODH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:72042487-72058954","ensembl_id":"ENSG00000102967"}},"GRch38":{"90":{"location":"16:72008588-72027664","ensembl_id":"ENSG00000102967"}}},"hgnc_date_symbol_changed":"1993-06-29"},"entity_type":"gene","entity_name":"DHODH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19915526","20220176","33262786","27370710"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Miller syndrome, MIM# 263750"],"mode_of_inheritance":"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":["MAP5","PPP1R102"],"biotype":"protein_coding","hgnc_id":"HGNC:6836","gene_name":"microtubule associated protein 1B","omim_gene":["157129"],"alias_name":["protein phosphatase 1, regulatory subunit 102"],"gene_symbol":"MAP1B","hgnc_symbol":"MAP1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:71403061-71505395","ensembl_id":"ENSG00000131711"}},"GRch38":{"90":{"location":"5:72107234-72209570","ensembl_id":"ENSG00000131711"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"MAP1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31317654","30150678","30214071"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":["Intellectual disability","seizures","PVNH","dysmorphic features","Periventricular nodular heterotopia 9, MIM# 618918","Deafness, autosomal dominant 83, MIM# 619808"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ADRBR","BAR","B2AR"],"biotype":"protein_coding","hgnc_id":"HGNC:286","gene_name":"adrenoceptor beta 2","omim_gene":["109690"],"alias_name":null,"gene_symbol":"ADRB2","hgnc_symbol":"ADRB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:148206156-148208196","ensembl_id":"ENSG00000169252"}},"GRch38":{"90":{"location":"5:148825245-148828687","ensembl_id":"ENSG00000169252"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"ADRB2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["PMID: 15724149"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Beta-2-adrenoreceptor agonist, reduced response to","{Asthma, nocturnal, susceptibility to} MIM#600807","{Obesity, susceptibility to} MIM#601665"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HEAB","hClp1"],"biotype":"protein_coding","hgnc_id":"HGNC:16999","gene_name":"cleavage and polyadenylation factor I subunit 1","omim_gene":["608757"],"alias_name":["ATP/GTPbinding protein","polyribonucleotide 5'-hydroxyl-kinase"],"gene_symbol":"CLP1","hgnc_symbol":"CLP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:57416465-57429340","ensembl_id":"ENSG00000172409"}},"GRch38":{"90":{"location":"11:57648992-57661868","ensembl_id":"ENSG00000172409"}}},"hgnc_date_symbol_changed":"2006-11-13"},"entity_type":"gene","entity_name":"CLP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24766809","29307788"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Pontocerebellar hypoplasia type 10, MIM# 615803"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1592"],"biotype":"protein_coding","hgnc_id":"HGNC:105","gene_name":"cyclin and CBS domain divalent metal cation transport mediator 4","omim_gene":["607805"],"alias_name":null,"gene_symbol":"CNNM4","hgnc_symbol":"CNNM4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:97426639-97477628","ensembl_id":"ENSG00000158158"}},"GRch38":{"90":{"location":"2:96760902-96811891","ensembl_id":"ENSG00000158158"}}},"hgnc_date_symbol_changed":"1999-12-07"},"entity_type":"gene","entity_name":"CNNM4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30705057"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Jalili syndrome\t217080","amelogenesis imperfecta, cone-rod dystrophy"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ11113","KIAA1461"],"biotype":"protein_coding","hgnc_id":"HGNC:20444","gene_name":"methyl-CpG binding domain protein 5","omim_gene":["611472"],"alias_name":null,"gene_symbol":"MBD5","hgnc_symbol":"MBD5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:148778580-149275805","ensembl_id":"ENSG00000204406"}},"GRch38":{"90":{"location":"2:148021011-148516971","ensembl_id":"ENSG00000204406"}}},"hgnc_date_symbol_changed":"2003-03-03"},"entity_type":"gene","entity_name":"MBD5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18812405","21981781","23708187","22726846","33912662"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mental retardation, autosomal dominant 1, MIM# 156200","MONDO:0007974"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MRG1","HsT18361"],"biotype":"protein_coding","hgnc_id":"HGNC:7001","gene_name":"Meis homeobox 2","omim_gene":["601740"],"alias_name":null,"gene_symbol":"MEIS2","hgnc_symbol":"MEIS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:37181406-37393504","ensembl_id":"ENSG00000134138"}},"GRch38":{"90":{"location":"15:36889204-37101299","ensembl_id":"ENSG00000134138"}}},"hgnc_date_symbol_changed":"1998-02-09"},"entity_type":"gene","entity_name":"MEIS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33427397","25712757"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cleft palate, cardiac defects, and mental retardation (MIM#600987)"],"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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It contains genes that cause syndromic and non-syndromic polydactyly.","status":"public","version":"0.301","version_created":"2026-03-12T11:30:58.449890+11:00","relevant_disorders":["Polydactyly","HP:0010442"],"stats":{"number_of_genes":141,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DTDST"],"biotype":"protein_coding","hgnc_id":"HGNC:10994","gene_name":"solute carrier family 26 member 2","omim_gene":["606718"],"alias_name":null,"gene_symbol":"SLC26A2","hgnc_symbol":"SLC26A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:149340300-149373018","ensembl_id":"ENSG00000155850"}},"GRch38":{"90":{"location":"5:149960737-149993455","ensembl_id":"ENSG00000155850"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"SLC26A2","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":160,"hash_id":null,"name":"Pierre Robin Sequence","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.61","version_created":"2026-01-26T17:52:14.382309+11:00","relevant_disorders":["Pierre Robin sequence","HP:0000201"],"stats":{"number_of_genes":54,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PTF1-p48","bHLHa29"],"biotype":"protein_coding","hgnc_id":"HGNC:23734","gene_name":"pancreas specific transcription factor, 1a","omim_gene":["607194"],"alias_name":null,"gene_symbol":"PTF1A","hgnc_symbol":"PTF1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:23481256-23483181","ensembl_id":"ENSG00000168267"}},"GRch38":{"90":{"location":"10:23192327-23194252","ensembl_id":"ENSG00000168267"}}},"hgnc_date_symbol_changed":"2003-12-04"},"entity_type":"gene","entity_name":"PTF1A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["21749365","15543146","19650412"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Pancreatic and cerebellar agenesis, MIM#609069"],"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. 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IIA, 158590","Charcot Marie Tooth disease, axonal, type 2L, 608673"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral 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22","omim_gene":["601097"],"alias_name":null,"gene_symbol":"PMP22","hgnc_symbol":"PMP22","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:15133095-15168643","ensembl_id":"ENSG00000109099"}},"GRch38":{"90":{"location":"17:15229777-15265326","ensembl_id":"ENSG00000109099"}}},"hgnc_date_symbol_changed":"1992-11-05"},"entity_type":"gene","entity_name":"PMP22","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32412171","31777123","32719652","32356557"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Royal Melbourne Hospital","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["Charcot-Marie-Tooth disease, type 1A, MIM# 118220","Charcot-Marie-Tooth disease, type 1E, MIM# 118300","Dejerine-Sottas disease, MIM# 145900","Neuropathy, recurrent, with pressure palsies 162500","Roussy-Levy syndrome 180800"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["SV/CNV"],"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":["HBVES","POP1","POPDC1"],"biotype":"protein_coding","hgnc_id":"HGNC:1152","gene_name":"blood vessel epicardial substance","omim_gene":["604577"],"alias_name":["popeye domain containing 1"],"gene_symbol":"BVES","hgnc_symbol":"BVES","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:105544697-105585049","ensembl_id":"ENSG00000112276"}},"GRch38":{"90":{"location":"6:105096822-105137174","ensembl_id":"ENSG00000112276"}}},"hgnc_date_symbol_changed":"2000-01-10"},"entity_type":"gene","entity_name":"BVES","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26642364 32528171 31119192"],"evidence":["Expert Review Green","Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Muscular dystrophy, limb-girdle, autosomal recessive 25 616812"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3071,"hash_id":null,"name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.65","version_created":"2026-01-21T10:59:30.179226+11:00","relevant_disorders":["Limb-girdle muscular dystrophy","MONDO:0016971; Proximal muscle weakness","HP:0003701; Distal myopathy MONDO:0018949"],"stats":{"number_of_genes":102,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Uae1"],"biotype":"protein_coding","hgnc_id":"HGNC:23657","gene_name":"glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase","omim_gene":["603824"],"alias_name":["bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase"],"gene_symbol":"GNE","hgnc_symbol":"GNE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:36214438-36277053","ensembl_id":"ENSG00000159921"}},"GRch38":{"90":{"location":"9:36214441-36277056","ensembl_id":"ENSG00000159921"}}},"hgnc_date_symbol_changed":"2003-11-28"},"entity_type":"gene","entity_name":"GNE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["22883483","20301439"],"evidence":["Expert Review Green","Expert Review","Victorian Clinical Genetics Services"],"phenotypes":["Nonaka myopathy (MIM#605820)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3071,"hash_id":null,"name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.65","version_created":"2026-01-21T10:59:30.179226+11:00","relevant_disorders":["Limb-girdle muscular dystrophy","MONDO:0016971; Proximal muscle weakness","HP:0003701; Distal myopathy MONDO:0018949"],"stats":{"number_of_genes":102,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1032","Munc13-1"],"biotype":"protein_coding","hgnc_id":"HGNC:23150","gene_name":"unc-13 homolog A","omim_gene":["609894"],"alias_name":null,"gene_symbol":"UNC13A","hgnc_symbol":"UNC13A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:17712137-17799401","ensembl_id":"ENSG00000130477"}},"GRch38":{"90":{"location":"19:17601328-17688365","ensembl_id":"ENSG00000130477"}}},"hgnc_date_symbol_changed":"2003-10-16"},"entity_type":"gene","entity_name":"UNC13A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40011789"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Monogenic diabetes, MONDO:0015967, UNC13A-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3093,"hash_id":null,"name":"Monogenic Diabetes","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).","status":"public","version":"0.224","version_created":"2026-04-06T18:03:06.439122+10:00","relevant_disorders":["Diabetes mellitus","HP:0000819"],"stats":{"number_of_genes":109,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CL640","FLJ26072"],"biotype":"protein_coding","hgnc_id":"HGNC:25223","gene_name":"coenzyme Q2, polyprenyltransferase","omim_gene":["609825"],"alias_name":["4-hydroxybenzoate polyprenyltransferase"],"gene_symbol":"COQ2","hgnc_symbol":"COQ2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:84182689-84206067","ensembl_id":"ENSG00000173085"}},"GRch38":{"90":{"location":"4:83261536-83284914","ensembl_id":"ENSG00000173085"}}},"hgnc_date_symbol_changed":"2005-07-05"},"entity_type":"gene","entity_name":"COQ2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16400613","30337132","26296322"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["coenzyme Q10 deficiency, primary, 1 MONDO:0011829"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3093,"hash_id":null,"name":"Monogenic Diabetes","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).","status":"public","version":"0.224","version_created":"2026-04-06T18:03:06.439122+10:00","relevant_disorders":["Diabetes mellitus","HP:0000819"],"stats":{"number_of_genes":109,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNU4ATAC1"],"biotype":"snRNA","hgnc_id":"HGNC:34016","gene_name":"RNA, U4atac small nuclear (U12-dependent splicing)","omim_gene":["601428"],"alias_name":null,"gene_symbol":"RNU4ATAC","hgnc_symbol":"RNU4ATAC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:122288457-122288583","ensembl_id":"ENSG00000264229"}},"GRch38":{"90":{"location":"2:121530881-121531007","ensembl_id":"ENSG00000264229"}}},"hgnc_date_symbol_changed":"2008-03-12"},"entity_type":"gene","entity_name":"RNU4ATAC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["2801768","29265708","30368667"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Roifman syndrome, MIM#\t616651","Lowry-Wood syndrome, MIM#\t226960"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["non-coding gene"],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.256","version_created":"2026-03-31T19:05:29.271183+11:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":138,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2217","gene_name":"collagen type IX alpha 1 chain","omim_gene":["120210"],"alias_name":null,"gene_symbol":"COL9A1","hgnc_symbol":"COL9A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:70924764-71012786","ensembl_id":"ENSG00000112280"}},"GRch38":{"90":{"location":"6:70215061-70303083","ensembl_id":"ENSG00000112280"}}},"hgnc_date_symbol_changed":"1989-05-08"},"entity_type":"gene","entity_name":"COL9A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16909383","21421862","31090205"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Stickler syndrome, type IV, MIM# 614134"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3114,"hash_id":null,"name":"Stickler Syndrome","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This is a consensus panel between VCGS and RMH.\r\n\r\nThis panel contains genes associated with Stickler syndrome, a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis.\r\n\r\nThe features of Stickler syndrome can be highly variable. Consider applying the Vitreoretinopathy, Deafness, Skeletal Dysplasia and Pierre Robin sequence panels if features are not entirely typical.","status":"public","version":"1.12","version_created":"2025-10-24T18:06:37.494562+11:00","relevant_disorders":["Myopia","HP:0000545; Retinal detachment","HP:0000541; Cleft palate","HP:0000175"],"stats":{"number_of_genes":10,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:13666","gene_name":"aladin WD repeat nucleoporin","omim_gene":["605378"],"alias_name":["aladin","Allgrove, triple-A","adracalin"],"gene_symbol":"AAAS","hgnc_symbol":"AAAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:53701240-53718648","ensembl_id":"ENSG00000094914"}},"GRch38":{"90":{"location":"12:53307456-53324864","ensembl_id":"ENSG00000094914"}}},"hgnc_date_symbol_changed":"2000-11-08"},"entity_type":"gene","entity_name":"AAAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Achalasia-addisonianism-alacrimia syndrome, 231550 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ25330","ODA7","CILD13","swt"],"biotype":"protein_coding","hgnc_id":"HGNC:30539","gene_name":"dynein axonemal assembly factor 1","omim_gene":["613190"],"alias_name":["outer row dynein assembly 7 homolog (Chlamydomonas)"],"gene_symbol":"DNAAF1","hgnc_symbol":"DNAAF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:84178865-84212373","ensembl_id":"ENSG00000154099"}},"GRch38":{"90":{"location":"16:84145287-84178767","ensembl_id":"ENSG00000154099"}}},"hgnc_date_symbol_changed":"2011-06-09"},"entity_type":"gene","entity_name":"DNAAF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ciliary dyskinesia, primary, 13, 613193 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mitochondrial complex I deficiency, 252010 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ33817","PPP1R166","CAMRQ2","SORF-2"],"biotype":"protein_coding","hgnc_id":"HGNC:26600","gene_name":"WD repeat domain 81","omim_gene":["614218"],"alias_name":["protein phosphatase 1, regulatory subunit 166"],"gene_symbol":"WDR81","hgnc_symbol":"WDR81","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:1619817-1641893","ensembl_id":"ENSG00000167716"}},"GRch38":{"90":{"location":"17:1716523-1738599","ensembl_id":"ENSG00000167716"}}},"hgnc_date_symbol_changed":"2005-12-16"},"entity_type":"gene","entity_name":"WDR81","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC12981","FLJ30131","ccp1"],"biotype":"protein_coding","hgnc_id":"HGNC:28178","gene_name":"coiled-coil domain containing 115","omim_gene":["613734"],"alias_name":null,"gene_symbol":"CCDC115","hgnc_symbol":"CCDC115","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:131095814-131099922","ensembl_id":"ENSG00000136710"}},"GRch38":{"90":{"location":"2:130338241-130342349","ensembl_id":"ENSG00000136710"}}},"hgnc_date_symbol_changed":"2006-07-03"},"entity_type":"gene","entity_name":"CCDC115","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Congenital disorder of glycosylation, type IIo, 616828 (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":["FLJ36445","Nesprin-4","Nesp4"],"biotype":"protein_coding","hgnc_id":"HGNC:26703","gene_name":"spectrin repeat containing nuclear envelope family member 4","omim_gene":["615535"],"alias_name":null,"gene_symbol":"SYNE4","hgnc_symbol":"SYNE4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:36494209-36499695","ensembl_id":"ENSG00000181392"}},"GRch38":{"90":{"location":"19:36003307-36008793","ensembl_id":"ENSG00000181392"}}},"hgnc_date_symbol_changed":"2012-05-31"},"entity_type":"gene","entity_name":"SYNE4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Hearing loss"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:333","gene_name":"angiotensinogen","omim_gene":["106150"],"alias_name":["alpha-1 antiproteinase, antitrypsin"],"gene_symbol":"AGT","hgnc_symbol":"AGT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:230838269-230850043","ensembl_id":"ENSG00000135744"}},"GRch38":{"90":{"location":"1:230702523-230714297","ensembl_id":"ENSG00000135744"}}},"hgnc_date_symbol_changed":"2001-06-29"},"entity_type":"gene","entity_name":"AGT","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Renal tubular dysgenesis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. 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It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MRLC2","HUMMLC2B","MYL11"],"biotype":"protein_coding","hgnc_id":"HGNC:29824","gene_name":"myosin light chain, phosphorylatable, fast skeletal muscle","omim_gene":["617378"],"alias_name":["myosin, light chain 11, regulatory","myosin regulatory light chain 2"],"gene_symbol":"MYLPF","hgnc_symbol":"MYLPF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:30382255-30389312","ensembl_id":"ENSG00000180209"}},"GRch38":{"90":{"location":"16:30370934-30377991","ensembl_id":"ENSG00000180209"}}},"hgnc_date_symbol_changed":"2009-03-06"},"entity_type":"gene","entity_name":"MYLPF","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32707087"],"evidence":["Expert Review Amber","Literature","Expert list"],"phenotypes":["Distal arthrogryposis type 1C (DA1C), MIM#619110"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. 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Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0733"],"biotype":"protein_coding","hgnc_id":"HGNC:17075","gene_name":"TGF-beta activated kinase 1/MAP3K7 binding protein 2","omim_gene":["605101"],"alias_name":null,"gene_symbol":"TAB2","hgnc_symbol":"TAB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:149539777-149732749","ensembl_id":"ENSG00000055208"}},"GRch38":{"90":{"location":"6:149218641-149411613","ensembl_id":"ENSG00000055208"}}},"hgnc_date_symbol_changed":"2010-02-05"},"entity_type":"gene","entity_name":"TAB2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Congenital heart disease, nonsyndromic"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2553","gene_name":"cullin 3","omim_gene":["603136"],"alias_name":null,"gene_symbol":"CUL3","hgnc_symbol":"CUL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:225334867-225450110","ensembl_id":"ENSG00000036257"}},"GRch38":{"90":{"location":"2:224470150-224585397","ensembl_id":"ENSG00000036257"}}},"hgnc_date_symbol_changed":"1998-10-29"},"entity_type":"gene","entity_name":"CUL3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22266938"],"evidence":["Expert Review Green","KidGen_AldoHypertension v38.1.0","Expert Review Green","KidGen_AldoHypertension v38.1.0"],"phenotypes":["Pseudohypoaldosteronism, type IIE, MIM# 614496"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["tuberin","LAM","PPP1R160"],"biotype":"protein_coding","hgnc_id":"HGNC:12363","gene_name":"TSC complex subunit 2","omim_gene":["191092"],"alias_name":["protein phosphatase 1, regulatory subunit 160"],"gene_symbol":"TSC2","hgnc_symbol":"TSC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:2097466-2138716","ensembl_id":"ENSG00000103197"}},"GRch38":{"90":{"location":"16:2047465-2088720","ensembl_id":"ENSG00000103197"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"TSC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["20301399"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["tuberous sclerosis MONDO:0001734"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4093,"hash_id":null,"name":"Facial papules","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes associated with diseases where facial papules and lesions can be a predominant feature of the phenotype, including coarse facies. It was developed by Prof Ingrid Winship from Royal Melbourne Hospital for use in the Genodermatosis clinic.","status":"public","version":"1.1","version_created":"2026-01-12T09:37:15.457047+11:00","relevant_disorders":["Papule HP:0200034"],"stats":{"number_of_genes":22,"number_of_strs":0,"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"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FRAG1","CWH43-N"],"biotype":"protein_coding","hgnc_id":"HGNC:17893","gene_name":"post-GPI attachment to proteins 2","omim_gene":["615187"],"alias_name":["FGF receptor activating protein 1","cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"],"gene_symbol":"PGAP2","hgnc_symbol":"PGAP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:3818954-3847601","ensembl_id":"ENSG00000148985"}},"GRch38":{"90":{"location":"11:3797724-3826371","ensembl_id":"ENSG00000148985"}}},"hgnc_date_symbol_changed":"2009-06-18"},"entity_type":"gene","entity_name":"PGAP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23561846","23561847","31805394","29119105","27871432"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0601","BHC110","LSD1"],"biotype":"protein_coding","hgnc_id":"HGNC:29079","gene_name":"lysine demethylase 1A","omim_gene":["609132"],"alias_name":null,"gene_symbol":"KDM1A","hgnc_symbol":"KDM1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:23345941-23410182","ensembl_id":"ENSG00000004487"}},"GRch38":{"90":{"location":"1:23019448-23083689","ensembl_id":"ENSG00000004487"}}},"hgnc_date_symbol_changed":"2009-09-29"},"entity_type":"gene","entity_name":"KDM1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34655521, 34906447"],"evidence":["Expert Review Green","Literature"],"phenotypes":["ACTH-independent macronodular adrenal hyperplasia 3, MONDO:0700299"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4488,"hash_id":null,"name":"Primary nodular adrenocortical disease","disease_group":"Endocrine disorders; Cancer Predisposition","disease_sub_group":"Adrenal disorders","description":"This panel contains genes associated with primary pigmented nodular adrenocortical disease and ACTH-independent macronodular adrenal hyperplasia.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.","status":"public","version":"0.15","version_created":"2026-02-02T07:59:54.010712+11:00","relevant_disorders":[],"stats":{"number_of_genes":6,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["S3-12"],"biotype":"protein_coding","hgnc_id":"HGNC:29393","gene_name":"perilipin 4","omim_gene":["613247"],"alias_name":null,"gene_symbol":"PLIN4","hgnc_symbol":"PLIN4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:4502204-4517716","ensembl_id":"ENSG00000167676"}},"GRch38":{"90":{"location":"19:4502180-4518465","ensembl_id":"ENSG00000167676"}}},"hgnc_date_symbol_changed":"2009-08-12"},"entity_type":"str","entity_name":"PLIN4_MRUPAV_33-mer","confidence_level":"3","penetrance":null,"publications":["32451610","37145156","36151849","35499779"],"evidence":["Expert Review Green","Literature"],"phenotypes":["myopathy, distal, with rimmed vacuoles MONDO:0014945"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"ACTGAAGACAGTGTCCTTGGTACCCATAAGCACAGCCTTGGAGGCGTCCACGCCGGTCTGCACGGTTCCTTTGGCCACATTCACTGCCCCCGTGACTCC","chromosome":"19","grch37_coordinates":[4510975,4511073],"grch38_coordinates":[4510963,4511061],"normal_repeats":31,"pathogenic_repeats":39,"tags":["adult-onset"],"panel":{"id":3597,"hash_id":null,"name":"Repeat Disorders","disease_group":"","disease_sub_group":"","description":"This panel contains reported short tandem repeat (STR) expansion disorders. The naming convention of the STRs is based on the name of the condition or fragile site that the expansion is associated with. \r\nThe panel was developed by RMH and WEHI, and is maintained by RMH.\r\n\r\nThis panel is used as a research panel by the Australian Genomics Acute Care study.","status":"public","version":"0.272","version_created":"2026-01-02T15:16:39.779953+11:00","relevant_disorders":[],"stats":{"number_of_genes":0,"number_of_strs":76,"number_of_regions":0},"types":[{"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"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}}]}