{"count":36038,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=283","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=281","results":[{"gene_data":{"alias":["beta-4","CFEOM3","CFEOM3A"],"biotype":"protein_coding","hgnc_id":"HGNC:20772","gene_name":"tubulin beta 3 class III","omim_gene":["602661"],"alias_name":["class III beta-tubulin"],"gene_symbol":"TUBB3","hgnc_symbol":"TUBB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:89987800-90005169","ensembl_id":"ENSG00000258947"}},"GRch38":{"90":{"location":"16:89921392-89938761","ensembl_id":"ENSG00000258947"}}},"hgnc_date_symbol_changed":"2004-11-22"},"entity_type":"gene","entity_name":"TUBB3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20829227","25059107","33318778"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":["Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":21,"hash_id":null,"name":"Tubulinopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nTubulinopathies refer to a wide spectrum of cortical malformations that result from defects in genes encoding the tubulin protein that regulates neuronal migration during brain development.\r\n\r\nBrain malformations include:\r\n-A range of lissencephalies (classic lissencephaly, lissencephaly with cerebellar hypoplasia, lissencephaly with agenesis of the corpus callosum, and centrally predominant pachygyria),\r\n-Polymicrogyria-like cortical dysplasia,\r\n-Simplified gyral pattern, and\r\n-Microlissencephaly often in combination with dysplastic basal ganglia, corpus callosum abnormalities, and hypoplasia or dysplasia of the brain stem and cerebellum.\r\n\r\nClinical features include motor and intellectual disabilities, epilepsy, and ocular findings of varying severity.\r\n\r\nWhere imaging and clinical features are less specific, consider applying the Malformations of Cortical Development superpanel.","status":"public","version":"1.2","version_created":"2024-09-11T12:06:06.122951+10:00","relevant_disorders":["Abnormal cortical gyration","HP:0002536"],"stats":{"number_of_genes":9,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1301","NEDL2"],"biotype":"protein_coding","hgnc_id":"HGNC:29853","gene_name":"HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2","omim_gene":["617245"],"alias_name":null,"gene_symbol":"HECW2","hgnc_symbol":"HECW2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:197059094-197458416","ensembl_id":"ENSG00000138411"}},"GRch38":{"90":{"location":"2:196194370-196593692","ensembl_id":"ENSG00000138411"}}},"hgnc_date_symbol_changed":"2004-12-13"},"entity_type":"gene","entity_name":"HECW2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"Other","publications":["29807643","29395664","27334371","27389779"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM# 617268","intellectual disability","epilepsy","regression","microcephaly"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":41,"hash_id":null,"name":"Angelman Rett like syndromes","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"1.14","version_created":"2025-11-28T14:40:40.364746+11:00","relevant_disorders":[],"stats":{"number_of_genes":38,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FREAC3","ARA","IGDA","IHG1"],"biotype":"protein_coding","hgnc_id":"HGNC:3800","gene_name":"forkhead box C1","omim_gene":["601090"],"alias_name":null,"gene_symbol":"FOXC1","hgnc_symbol":"FOXC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:1610681-1614127","ensembl_id":"ENSG00000054598"}},"GRch38":{"90":{"location":"6:1609972-1613897","ensembl_id":"ENSG00000054598"}}},"hgnc_date_symbol_changed":"1995-06-05"},"entity_type":"gene","entity_name":"FOXC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Anterior segment dysgenesis 3, multiple subtypes, MIM# 601631","Axenfeld-Rieger syndrome, type 3, MIM# 602482"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":43,"hash_id":null,"name":"Eye Anterior Segment Abnormalities","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nAnterior segment dysgeneses are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. Clinical features include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface.\r\n\r\nAnterior segment dysgenesis can occur in isolation or as part of a more complex eye malformation or syndromic disorder. Also consider applying the Anophthalmia_Microphthalmia_Coloboma and Cataracts panels as indicated.","status":"public","version":"1.21","version_created":"2026-04-07T13:50:26.927276+10:00","relevant_disorders":["Abnormal anterior eye segment morphology","HP:0004328"],"stats":{"number_of_genes":29,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7525","gene_name":"muscle associated receptor tyrosine kinase","omim_gene":["601296"],"alias_name":null,"gene_symbol":"MUSK","hgnc_symbol":"MUSK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:113431051-113563859","ensembl_id":"ENSG00000030304"}},"GRch38":{"90":{"location":"9:110668771-110801620","ensembl_id":"ENSG00000030304"}}},"hgnc_date_symbol_changed":"1997-04-10"},"entity_type":"gene","entity_name":"MUSK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25537362","25612909","8653786","31750350"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Fetal akinesia deformation sequence 1, MIM# 208150","MONDO:0100101"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ14813","THC2","Gwl"],"biotype":"protein_coding","hgnc_id":"HGNC:19042","gene_name":"microtubule associated serine/threonine kinase like","omim_gene":["608221"],"alias_name":["greatwall kinase homolog"],"gene_symbol":"MASTL","hgnc_symbol":"MASTL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:27443753-27475853","ensembl_id":"ENSG00000120539"}},"GRch38":{"90":{"location":"10:27154824-27186924","ensembl_id":"ENSG00000120539"}}},"hgnc_date_symbol_changed":"2004-02-10"},"entity_type":"gene","entity_name":"MASTL","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":56,"hash_id":null,"name":"Bone Marrow Failure","disease_group":"Haematological disorders","disease_sub_group":"","description":"Bone marrow failure (BMF) refers to the decreased production of one or more major haematopoietic lineages which leads to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.","status":"public","version":"1.141","version_created":"2026-03-17T18:48:23.244194+11:00","relevant_disorders":["Abnormality of multiple cell lineages of the bone marrow","HP:0012145"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HFK2","QIN","BF1","HFK1","HFK3","HBF-3"],"biotype":"protein_coding","hgnc_id":"HGNC:3811","gene_name":"forkhead box G1","omim_gene":["164874"],"alias_name":null,"gene_symbol":"FOXG1","hgnc_symbol":"FOXG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:29235050-29238870","ensembl_id":"ENSG00000176165"}},"GRch38":{"90":{"location":"14:28760330-28770277","ensembl_id":"ENSG00000176165"}}},"hgnc_date_symbol_changed":"2007-05-16"},"entity_type":"gene","entity_name":"FOXG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34077496","33528536"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cerebral Palsy","Rett syndrome, congenital variant MIM# 613454"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ARHGEF23"],"biotype":"protein_coding","hgnc_id":"HGNC:12303","gene_name":"trio Rho guanine nucleotide exchange factor","omim_gene":["601893"],"alias_name":null,"gene_symbol":"TRIO","hgnc_symbol":"TRIO","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:14143811-14532235","ensembl_id":"ENSG00000038382"}},"GRch38":{"90":{"location":"5:14143702-14532128","ensembl_id":"ENSG00000038382"}}},"hgnc_date_symbol_changed":"1997-01-29"},"entity_type":"gene","entity_name":"TRIO","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 39213953"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11773","gene_name":"transforming growth factor beta receptor 2","omim_gene":["190182"],"alias_name":null,"gene_symbol":"TGFBR2","hgnc_symbol":"TGFBR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:30647994-30735634","ensembl_id":"ENSG00000163513"}},"GRch38":{"90":{"location":"3:30606502-30694142","ensembl_id":"ENSG00000163513"}}},"hgnc_date_symbol_changed":"1993-09-30"},"entity_type":"gene","entity_name":"TGFBR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Loeys-Dietz syndrome 2, MIM# 610168"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":76,"hash_id":null,"name":"Congenital Heart Defect","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.","status":"public","version":"0.534","version_created":"2026-03-30T13:14:35.719896+11:00","relevant_disorders":["Abnormal heart morphology HP:0001627"],"stats":{"number_of_genes":253,"number_of_strs":1,"number_of_regions":10},"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":["IGDS","RS","Brx1","Otlx2","ARP1"],"biotype":"protein_coding","hgnc_id":"HGNC:9005","gene_name":"paired like homeodomain 2","omim_gene":["601542"],"alias_name":null,"gene_symbol":"PITX2","hgnc_symbol":"PITX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:111538579-111563279","ensembl_id":"ENSG00000164093"}},"GRch38":{"90":{"location":"4:110617423-110642123","ensembl_id":"ENSG00000164093"}}},"hgnc_date_symbol_changed":"1992-10-05"},"entity_type":"gene","entity_name":"PITX2","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":76,"hash_id":null,"name":"Congenital Heart Defect","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.","status":"public","version":"0.534","version_created":"2026-03-30T13:14:35.719896+11:00","relevant_disorders":["Abnormal heart morphology HP:0001627"],"stats":{"number_of_genes":253,"number_of_strs":1,"number_of_regions":10},"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":["FAD","FA-D2"],"biotype":"protein_coding","hgnc_id":"HGNC:3585","gene_name":"Fanconi anemia complementation group D2","omim_gene":["613984"],"alias_name":null,"gene_symbol":"FANCD2","hgnc_symbol":"FANCD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:10068098-10143614","ensembl_id":"ENSG00000144554"}},"GRch38":{"90":{"location":"3:10026414-10101930","ensembl_id":"ENSG00000144554"}}},"hgnc_date_symbol_changed":"2001-10-05"},"entity_type":"gene","entity_name":"FANCD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17436244"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anaemia, complementation group D2, MIM# 227646","MONDO:0009214"],"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. They include ataxia telangiectasia, Bloom syndrome, Fanconi anaemia, Nijmegen breakage syndrome, immunodeficiency/centromeric instability/facial anomalies syndrome, Cockayne syndrome, trichothiodystrophy, xeroderma pigmentosum, DNA ligase I deficiency, and DNA recombinase repair defects.\r\n\r\nTypical features include impairment of growth, immunodeficiency, predisposition to infectious disease, and the risk of developing certain types of malignancies.","status":"public","version":"1.24","version_created":"2025-10-16T15:58:38.818741+11:00","relevant_disorders":["Chromosome breakage HP:0040012"],"stats":{"number_of_genes":60,"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":["RU2","KIAA1154","DCDC2A","NPHP19"],"biotype":"protein_coding","hgnc_id":"HGNC:18141","gene_name":"doublecortin domain containing 2","omim_gene":["605755"],"alias_name":null,"gene_symbol":"DCDC2","hgnc_symbol":"DCDC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:24171984-24358280","ensembl_id":"ENSG00000146038"}},"GRch38":{"90":{"location":"6:24171756-24358052","ensembl_id":"ENSG00000146038"}}},"hgnc_date_symbol_changed":"2003-05-20"},"entity_type":"gene","entity_name":"DCDC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25557784","31821705"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Nephronophthisis 19, MIM# 616217"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":84,"hash_id":null,"name":"Ciliopathies","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SLRR2B"],"biotype":"protein_coding","hgnc_id":"HGNC:6309","gene_name":"keratocan","omim_gene":["603288"],"alias_name":["keratocan proteoglycan"],"gene_symbol":"KERA","hgnc_symbol":"KERA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:91444268-91451760","ensembl_id":"ENSG00000139330"}},"GRch38":{"90":{"location":"12:91050491-91057983","ensembl_id":"ENSG00000139330"}}},"hgnc_date_symbol_changed":"1999-08-26"},"entity_type":"gene","entity_name":"KERA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23834557","11726611","10802664"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cornea plana 2, autosomal recessive, MIM#\t217300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":91,"hash_id":null,"name":"Corneal Dystrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe corneal dystrophies are a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea, causing opacification. The corneal dystrophies can be divided into three groups based on the sole or predominant anatomical location of the abnormalities: (a). the anterior corneal dystrophies affect primarily the corneal epithelium and its basement membrane or Bowman layer and the superficial corneal stroma, (b).the stromal corneal dystrophies affect the corneal stroma, (c). the posterior corneal dystrophies affect the Descemet membrane and the corneal endothelium. \r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Corneal Dystrophy' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 27/07/2020.","status":"public","version":"1.21","version_created":"2026-02-22T15:53:37.257206+11:00","relevant_disorders":["Abnormal corneal morphology","HP:0000481"],"stats":{"number_of_genes":33,"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":[]},{"gene_data":{"alias":["hsa-mir-184"],"biotype":"miRNA","hgnc_id":"HGNC:31555","gene_name":"microRNA 184","omim_gene":["613146"],"alias_name":null,"gene_symbol":"MIR184","hgnc_symbol":"MIR184","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:79502130-79502213","ensembl_id":"ENSG00000207695"}},"GRch38":{"90":{"location":"15:79209788-79209871","ensembl_id":"ENSG00000207695"}}},"hgnc_date_symbol_changed":"2008-12-18"},"entity_type":"gene","entity_name":"MIR184","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40852795","21996275","22131394","25373792","24138095"],"evidence":["Expert Review Green","Literature"],"phenotypes":["EDICT syndrome (MIM#614303)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":91,"hash_id":null,"name":"Corneal Dystrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe corneal dystrophies are a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea, causing opacification. The corneal dystrophies can be divided into three groups based on the sole or predominant anatomical location of the abnormalities: (a). the anterior corneal dystrophies affect primarily the corneal epithelium and its basement membrane or Bowman layer and the superficial corneal stroma, (b).the stromal corneal dystrophies affect the corneal stroma, (c). the posterior corneal dystrophies affect the Descemet membrane and the corneal endothelium. \r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Corneal Dystrophy' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 27/07/2020.","status":"public","version":"1.21","version_created":"2026-02-22T15:53:37.257206+11:00","relevant_disorders":["Abnormal corneal morphology","HP:0000481"],"stats":{"number_of_genes":33,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3666","gene_name":"fibroblast growth factor 10","omim_gene":["602115"],"alias_name":null,"gene_symbol":"FGF10","hgnc_symbol":"FGF10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:44303646-44389808","ensembl_id":"ENSG00000070193"}},"GRch38":{"90":{"location":"5:44303544-44389706","ensembl_id":"ENSG00000070193"}}},"hgnc_date_symbol_changed":"1996-12-16"},"entity_type":"gene","entity_name":"FGF10","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["29215649"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Craniosynostosis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":93,"hash_id":null,"name":"Craniosynostosis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH. It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.","status":"public","version":"1.85","version_created":"2026-04-07T13:46:55.940488+10:00","relevant_disorders":["Craniosynostosis HP:0001363"],"stats":{"number_of_genes":105,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CDHF5"],"biotype":"protein_coding","hgnc_id":"HGNC:3049","gene_name":"desmoglein 2","omim_gene":["125671"],"alias_name":null,"gene_symbol":"DSG2","hgnc_symbol":"DSG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:29078006-29128971","ensembl_id":"ENSG00000046604"}},"GRch38":{"90":{"location":"18:31498043-31549008","ensembl_id":"ENSG00000046604"}}},"hgnc_date_symbol_changed":"1991-11-15"},"entity_type":"gene","entity_name":"DSG2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["23071725","33949662","18678517","21859740","28764973","35941102"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Arrhythmogenic right ventricular dysplasia, 10, 610193","Cardiomyopathy, dilated, 1BB, 612877"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":95,"hash_id":null,"name":"Dilated Cardiomyopathy","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes typically associated with isolated dilated cardiomyopathy, with onset in adolescence or adulthood. For early onset dilated 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 has been compared against the Genomics England 'Dilated Cardiomyopathy - teen and adult' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England 5/8/2020.\r\n\r\nThe panel is aligned with the assessments of DCM genes by ClinGen, Jordan E et al, 2021, PMID 33947203.","status":"public","version":"1.66","version_created":"2026-04-02T19:34:23.537467+11:00","relevant_disorders":["Dilated cardiomyopathy","HP:0001644"],"stats":{"number_of_genes":69,"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":["L26"],"biotype":"protein_coding","hgnc_id":"HGNC:10327","gene_name":"ribosomal protein L26","omim_gene":["603704"],"alias_name":null,"gene_symbol":"RPL26","hgnc_symbol":"RPL26","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:8280838-8286531","ensembl_id":"ENSG00000161970"}},"GRch38":{"90":{"location":"17:8377520-8383213","ensembl_id":"ENSG00000161970"}}},"hgnc_date_symbol_changed":"1993-06-15"},"entity_type":"gene","entity_name":"RPL26","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22431104"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Diamond-Blackfan anemia 11, MIM# 614900"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":98,"hash_id":null,"name":"Diamond Blackfan anaemia","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nDiamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. Main features are:\r\n-normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow\r\n-growth retardation\r\n-craniofacial, upper limb, heart, and urinary system congenital malformations.\r\n\r\nIncreased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F are typical; however, there is significant variability.\r\n\r\nDBA is caused by variants in the large and small ribosomal protein genes. Deletions are common, and may not be reported as part of some NGS assays.\r\n\r\nPlease also refer to the Bone Marrow Failure, Chromosome Breakage Disorders, and Bleeding and Platelet disorders panels if a broader differential diagnosis is being considered.","status":"public","version":"1.16","version_created":"2026-03-17T20:20:46.699102+11:00","relevant_disorders":["Anemia","HP:0001903; Abnormality of thumb morphology","HP:0001172"],"stats":{"number_of_genes":28,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["StAR","STARD1"],"biotype":"protein_coding","hgnc_id":"HGNC:11359","gene_name":"steroidogenic acute regulatory protein","omim_gene":["600617"],"alias_name":["StAR related lipid transfer (START) domain containing 1"],"gene_symbol":"STAR","hgnc_symbol":"STAR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:38001167-38008783","ensembl_id":"ENSG00000147465"}},"GRch38":{"90":{"location":"8:38143649-38151265","ensembl_id":"ENSG00000147465"}}},"hgnc_date_symbol_changed":"1996-04-24"},"entity_type":"gene","entity_name":"STAR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7892608","8634702"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Lipoid adrenal hyperplasia (MIM#201710)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":99,"hash_id":null,"name":"Differences of Sex Development","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.50","version_created":"2026-04-12T14:14:27.453739+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":142,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P85B","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8980","gene_name":"phosphoinositide-3-kinase regulatory subunit 2","omim_gene":["603157"],"alias_name":["phosphoinositide-3-kinase regulatory subunit beta"],"gene_symbol":"PIK3R2","hgnc_symbol":"PIK3R2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:18263928-18281350","ensembl_id":"ENSG00000105647"}},"GRch38":{"90":{"location":"19:18153118-18170540","ensembl_id":"ENSG00000105647"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":115,"hash_id":null,"name":"Hydrocephalus_Ventriculomegaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.","status":"public","version":"0.134","version_created":"2026-01-28T12:49:29.963583+11:00","relevant_disorders":["Hydrocephalus","HP:0000238; Ventriculomegaly","HP:0002119"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["VAKTI","LEKTI","LETKI","NETS","NS","FLJ21544","FLJ97536","FLJ97596","FLJ99794","DKFZp686K19184"],"biotype":"protein_coding","hgnc_id":"HGNC:15464","gene_name":"serine peptidase inhibitor, Kazal type 5","omim_gene":["605010"],"alias_name":["lymphoepithelial Kazal-type-related inhibitor"],"gene_symbol":"SPINK5","hgnc_symbol":"SPINK5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:147405246-147516852","ensembl_id":"ENSG00000133710"}},"GRch38":{"90":{"location":"5:148025683-148137289","ensembl_id":"ENSG00000133710"}}},"hgnc_date_symbol_changed":"2001-03-30"},"entity_type":"gene","entity_name":"SPINK5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["10712206","15590704","31977080"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Netherton syndrome MIM#256500"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":124,"hash_id":null,"name":"Ichthyosis and Porokeratosis","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH. It contains genes that cause non-syndromic and syndromic ichthyosis and porokeratosis.","status":"public","version":"1.25","version_created":"2026-03-19T12:26:58.874178+11:00","relevant_disorders":["Ichthyosis","HP:0008064;Porokeratosis","HP:0200044"],"stats":{"number_of_genes":65,"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":"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":["SLP-76"],"biotype":"protein_coding","hgnc_id":"HGNC:6529","gene_name":"lymphocyte cytosolic protein 2","omim_gene":["601603"],"alias_name":["76 kDa tyrosine phosphoprotein","SH2 domain-containing leukocyte protein of 76kD"],"gene_symbol":"LCP2","hgnc_symbol":"LCP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:169673241-169725231","ensembl_id":"ENSG00000043462"}},"GRch38":{"90":{"location":"5:170246237-170298227","ensembl_id":"ENSG00000043462"}}},"hgnc_date_symbol_changed":"1996-03-12"},"entity_type":"gene","entity_name":"LCP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33231617","36474126"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Immunodeficiency 81, MIM# 619374","Severe combined immunodeficiency"],"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":"1.4739","version_created":"2026-04-12T14:08:16.491946+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":[]},{"gene_data":{"alias":["Cka1","Cka2"],"biotype":"protein_coding","hgnc_id":"HGNC:2457","gene_name":"casein kinase 2 alpha 1","omim_gene":["115440"],"alias_name":null,"gene_symbol":"CSNK2A1","hgnc_symbol":"CSNK2A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:459116-524465","ensembl_id":"ENSG00000101266"}},"GRch38":{"90":{"location":"20:473591-543821","ensembl_id":"ENSG00000101266"}}},"hgnc_date_symbol_changed":"1992-02-13"},"entity_type":"gene","entity_name":"CSNK2A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27048600","29240241","29383814"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Okur-Chung neurodevelopmental syndrome, MIM# 617062"],"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":"1.4739","version_created":"2026-04-12T14:08:16.491946+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":["PPP1R88"],"biotype":"protein_coding","hgnc_id":"HGNC:31673","gene_name":"glutaredoxin and cysteine rich domain containing 1","omim_gene":["613283"],"alias_name":["protein phosphatase 1, regulatory subunit 88"],"gene_symbol":"GRXCR1","hgnc_symbol":"GRXCR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:42895284-43032675","ensembl_id":"ENSG00000215203"}},"GRch38":{"90":{"location":"4:42893267-43030658","ensembl_id":"ENSG00000215203"}}},"hgnc_date_symbol_changed":"2008-07-04"},"entity_type":"gene","entity_name":"GRXCR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20137778","25802247","26226137","26445815","26969326","20137774"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal recessive 25, MIM# 613285"],"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":"1.4739","version_created":"2026-04-12T14:08:16.491946+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":["TONEBP","KIAA0827","NFATL1","OREBP","NFATZ","NF-AT5"],"biotype":"protein_coding","hgnc_id":"HGNC:7774","gene_name":"nuclear factor of activated T-cells 5","omim_gene":["604708"],"alias_name":["tonicity-responsive enhancer binding protein"],"gene_symbol":"NFAT5","hgnc_symbol":"NFAT5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:69598997-69738569","ensembl_id":"ENSG00000102908"}},"GRch38":{"90":{"location":"16:69565094-69704666","ensembl_id":"ENSG00000102908"}}},"hgnc_date_symbol_changed":"1999-07-16"},"entity_type":"gene","entity_name":"NFAT5","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["25667416","36238298"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Immune deficiency disease, MONDO:0003778, NFAT5-related","Recurrent infections","Autoimmune enterocolopathy","EBV susceptibility","HLH"],"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":"1.4739","version_created":"2026-04-12T14:08:16.491946+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":["COUP-TFII","COUPTFB","SVP40","NF-E3"],"biotype":"protein_coding","hgnc_id":"HGNC:7976","gene_name":"nuclear receptor subfamily 2 group F member 2","omim_gene":["107773"],"alias_name":null,"gene_symbol":"NR2F2","hgnc_symbol":"NR2F2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:96869167-96883492","ensembl_id":"ENSG00000185551"}},"GRch38":{"90":{"location":"15:96325938-96340263","ensembl_id":"ENSG00000185551"}}},"hgnc_date_symbol_changed":"1995-03-21"},"entity_type":"gene","entity_name":"NR2F2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["37500725","24702954","29478779","31687637","27363585","29222010","29663647"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Syndromic disease, MONDO:0002254, NR2F2-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":"1.4739","version_created":"2026-04-12T14:08:16.491946+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":["TSPAN22","rd2","CACD2"],"biotype":"protein_coding","hgnc_id":"HGNC:9942","gene_name":"peripherin 2","omim_gene":["179605"],"alias_name":null,"gene_symbol":"PRPH2","hgnc_symbol":"PRPH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:42664340-42690312","ensembl_id":"ENSG00000112619"}},"GRch38":{"90":{"location":"6:42696600-42722574","ensembl_id":"ENSG00000112619"}}},"hgnc_date_symbol_changed":"2006-11-23"},"entity_type":"gene","entity_name":"PRPH2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32660024"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["PRPH2-related retinopathy MONDO:1040055"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":"1.4739","version_created":"2026-04-12T14:08:16.491946+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":["RX"],"biotype":"protein_coding","hgnc_id":"HGNC:18662","gene_name":"retina and anterior neural fold homeobox","omim_gene":["601881"],"alias_name":null,"gene_symbol":"RAX","hgnc_symbol":"RAX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:56934267-56941318","ensembl_id":"ENSG00000134438"}},"GRch38":{"90":{"location":"18:59267035-59274086","ensembl_id":"ENSG00000134438"}}},"hgnc_date_symbol_changed":"2002-05-22"},"entity_type":"gene","entity_name":"RAX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14662654","18783408","30811539","24033328","22524605"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Microphthalmia, isolated 3, MIM# 611038"],"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":"1.4739","version_created":"2026-04-12T14:08:16.491946+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":["TIF1GAMMA","FLJ11429","KIAA1113","TIFGAMMA","RFG7","TF1G","TIF1G","PTC7"],"biotype":"protein_coding","hgnc_id":"HGNC:16290","gene_name":"tripartite motif containing 33","omim_gene":["605769"],"alias_name":["transcriptional intermediary factor 1 gamma","ret-fused gene 7"],"gene_symbol":"TRIM33","hgnc_symbol":"TRIM33","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:114935399-115053781","ensembl_id":"ENSG00000197323"}},"GRch38":{"90":{"location":"1:114392777-114511160","ensembl_id":"ENSG00000197323"}}},"hgnc_date_symbol_changed":"2001-08-10"},"entity_type":"gene","entity_name":"TRIM33","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["39054052"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Developmental dysplasia of the hip 4, MIM# 621311"],"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":"1.4739","version_created":"2026-04-12T14:08:16.491946+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":["MGC27034","TRM10"],"biotype":"protein_coding","hgnc_id":"HGNC:28403","gene_name":"tRNA methyltransferase 10A","omim_gene":["616013"],"alias_name":null,"gene_symbol":"TRMT10A","hgnc_symbol":"TRMT10A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:100467866-100485189","ensembl_id":"ENSG00000145331"}},"GRch38":{"90":{"location":"4:99546709-99564032","ensembl_id":"ENSG00000145331"}}},"hgnc_date_symbol_changed":"2012-06-28"},"entity_type":"gene","entity_name":"TRMT10A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24204302","25053765","33448213","33067246","26535115","26526202","26297882"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033","MONDO:0000208"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":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":"1.4739","version_created":"2026-04-12T14:08:16.491946+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":["Pwdmp","KIAA1638","FLJ23127","ORF26","DYF-2","Oseg6","IFT144","NPHP13"],"biotype":"protein_coding","hgnc_id":"HGNC:18340","gene_name":"WD repeat domain 19","omim_gene":["608151"],"alias_name":["intraflagellar transport 144 homolog (Chlamydomonas)"],"gene_symbol":"WDR19","hgnc_symbol":"WDR19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:39184024-39287430","ensembl_id":"ENSG00000157796"}},"GRch38":{"90":{"location":"4:39182404-39285810","ensembl_id":"ENSG00000157796"}}},"hgnc_date_symbol_changed":"2002-04-26"},"entity_type":"gene","entity_name":"WDR19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33946315","33875766","33606107","22019273","23559409","23683095","32055034"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Nephronophthisis 13, MIM# 614377","Senior-Loken syndrome 8, MIM# 616307","Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376","Cranioectodermal dysplasia 4, MIM# 614378"],"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":"1.4739","version_created":"2026-04-12T14:08:16.491946+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":["UGPP1"],"biotype":"protein_coding","hgnc_id":"HGNC:12527","gene_name":"UDP-glucose pyrophosphorylase 2","omim_gene":["191760"],"alias_name":["UTP--glucose-1-phosphate uridylyltransferase"],"gene_symbol":"UGP2","hgnc_symbol":"UGP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:64068074-64118696","ensembl_id":"ENSG00000169764"}},"GRch38":{"90":{"location":"2:63840940-63891562","ensembl_id":"ENSG00000169764"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"UGP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31820119"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Epileptic encephalopathy","intellectual disability","microcephaly"],"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":"1.4739","version_created":"2026-04-12T14:08:16.491946+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":[]},{"gene_data":{"alias":["FLJ21522","MGC16817"],"biotype":"protein_coding","hgnc_id":"HGNC:21297","gene_name":"EPS8 like 3","omim_gene":["614989"],"alias_name":null,"gene_symbol":"EPS8L3","hgnc_symbol":"EPS8L3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:110292702-110306649","ensembl_id":"ENSG00000198758"}},"GRch38":{"90":{"location":"1:109750080-109764027","ensembl_id":"ENSG00000198758"}}},"hgnc_date_symbol_changed":"2003-06-05"},"entity_type":"gene","entity_name":"EPS8L3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["23099647"],"evidence":["Literature"],"phenotypes":["Marie Unna hereditary hypotrichosis MONDO:0018631"],"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":"1.4739","version_created":"2026-04-12T14:08:16.491946+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":[]},{"gene_data":{"alias":["TLSP"],"biotype":"protein_coding","hgnc_id":"HGNC:6359","gene_name":"kallikrein related peptidase 11","omim_gene":["604434"],"alias_name":null,"gene_symbol":"KLK11","hgnc_symbol":"KLK11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:51525472-51531295","ensembl_id":"ENSG00000167757"}},"GRch38":{"90":{"location":"19:51022216-51028039","ensembl_id":"ENSG00000167757"}}},"hgnc_date_symbol_changed":"1999-10-19"},"entity_type":"gene","entity_name":"KLK11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36689511","37212630"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ichthyosis with erythrokeratoderma, MIM# 620507"],"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":"1.4739","version_created":"2026-04-12T14:08:16.491946+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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12787","gene_name":"Wnt family member 7B","omim_gene":["601967"],"alias_name":null,"gene_symbol":"WNT7B","hgnc_symbol":"WNT7B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:46316242-46373009","ensembl_id":"ENSG00000188064"}},"GRch38":{"90":{"location":"22:45920362-45977129","ensembl_id":"ENSG00000188064"}}},"hgnc_date_symbol_changed":"1997-04-21"},"entity_type":"gene","entity_name":"WNT7B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35790350"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome","Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-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":"1.4739","version_created":"2026-04-12T14:08:16.491946+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":[]},{"gene_data":{"alias":["FLJ32821","TAF(II)43"],"biotype":"protein_coding","hgnc_id":"HGNC:17300","gene_name":"TATA-box binding protein associated factor 8","omim_gene":["609514"],"alias_name":null,"gene_symbol":"TAF8","hgnc_symbol":"TAF8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:42018251-42055199","ensembl_id":"ENSG00000137413"}},"GRch38":{"90":{"location":"6:42050513-42087461","ensembl_id":"ENSG00000137413"}}},"hgnc_date_symbol_changed":"2007-07-30"},"entity_type":"gene","entity_name":"TAF8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29648665","35759269"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM# 619972"],"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":"1.4739","version_created":"2026-04-12T14:08:16.491946+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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3677","gene_name":"fibroblast growth factor 20","omim_gene":["605558"],"alias_name":null,"gene_symbol":"FGF20","hgnc_symbol":"FGF20","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:16849678-16859690","ensembl_id":"ENSG00000078579"}},"GRch38":{"90":{"location":"8:16992169-17002181","ensembl_id":"ENSG00000078579"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"FGF20","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["22698282"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Renal hypodysplasia/aplasia 2, MIM#615721"],"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":"1.4739","version_created":"2026-04-12T14:08:16.491946+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":[]},{"gene_data":{"alias":["ShrmL","SHRM","KIAA1481","APXL3"],"biotype":"protein_coding","hgnc_id":"HGNC:30422","gene_name":"shroom family member 3","omim_gene":["604570"],"alias_name":null,"gene_symbol":"SHROOM3","hgnc_symbol":"SHROOM3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:77356253-77704406","ensembl_id":"ENSG00000138771"}},"GRch38":{"90":{"location":"4:76435100-76783253","ensembl_id":"ENSG00000138771"}}},"hgnc_date_symbol_changed":"2006-07-20"},"entity_type":"gene","entity_name":"SHROOM3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32621286"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Anencephaly","cleft lip and palate"],"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":"1.4739","version_created":"2026-04-12T14:08:16.491946+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":[]},{"gene_data":{"alias":["KIDCR","DCR","SDR20C1"],"biotype":"protein_coding","hgnc_id":"HGNC:18985","gene_name":"dicarbonyl and L-xylulose reductase","omim_gene":["608347"],"alias_name":["short chain dehydrogenase/reductase family 20C, member 1"],"gene_symbol":"DCXR","hgnc_symbol":"DCXR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:79993012-79995608","ensembl_id":"ENSG00000169738"}},"GRch38":{"90":{"location":"17:82035136-82037732","ensembl_id":"ENSG00000169738"}}},"hgnc_date_symbol_changed":"2002-07-25"},"entity_type":"gene","entity_name":"DCXR","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["22042873"],"evidence":["Expert Review Amber","Expert list","Expert Review Amber","NHS GMS"],"phenotypes":["Pentosuria MIM#260800","Disorders of pentose metabolism"],"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":"1.4739","version_created":"2026-04-12T14:08:16.491946+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":[]},{"gene_data":{"alias":["HSPC139"],"biotype":"protein_coding","hgnc_id":"HGNC:14312","gene_name":"CXXC repeat containing interactor of PDZ3 domain","omim_gene":["604594"],"alias_name":null,"gene_symbol":"CRIPT","hgnc_symbol":"CRIPT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:46843555-46852881","ensembl_id":"ENSG00000119878"}},"GRch38":{"90":{"location":"2:46616416-46625742","ensembl_id":"ENSG00000119878"}}},"hgnc_date_symbol_changed":"2006-06-22"},"entity_type":"gene","entity_name":"CRIPT","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["24389050","27250922","36630262","37013901"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Short stature with microcephaly and distinctive facies (MIM#615789)","Rothmund-Thomson syndrome MONDO:0010002"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CGI-10"],"biotype":"protein_coding","hgnc_id":"HGNC:20233","gene_name":"coenzyme Q6, monooxygenase","omim_gene":["614647"],"alias_name":null,"gene_symbol":"COQ6","hgnc_symbol":"COQ6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:74416629-74430373","ensembl_id":"ENSG00000119723"}},"GRch38":{"90":{"location":"14:73949926-73963670","ensembl_id":"ENSG00000119723"}}},"hgnc_date_symbol_changed":"2003-01-10"},"entity_type":"gene","entity_name":"COQ6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":144,"hash_id":null,"name":"Proteinuria","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"To be used in individuals with suspected nephrotic syndrome and related conditions, part of the Renal Glomerular Disease Superpanel.\r\n\r\n09/01/2020: This panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.","status":"public","version":"0.239","version_created":"2026-03-12T18:51:41.043263+11:00","relevant_disorders":["Proteinuria HP:0000093"],"stats":{"number_of_genes":88,"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":"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6427","gene_name":"keratin 17","omim_gene":["148069"],"alias_name":null,"gene_symbol":"KRT17","hgnc_symbol":"KRT17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:39775689-39781094","ensembl_id":"ENSG00000128422"}},"GRch38":{"90":{"location":"17:41619437-41624842","ensembl_id":"ENSG00000128422"}}},"hgnc_date_symbol_changed":"1993-10-18"},"entity_type":"gene","entity_name":"KRT17","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":148,"hash_id":null,"name":"Oligodontia","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.33","version_created":"2026-02-21T15:35:59.668194+11:00","relevant_disorders":["Abnormal number of teeth HP:0006483"],"stats":{"number_of_genes":14,"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":["FLJ22501","BLOC2S3"],"biotype":"protein_coding","hgnc_id":"HGNC:18817","gene_name":"HPS6, biogenesis of lysosomal organelles complex 2 subunit 3","omim_gene":["607522"],"alias_name":null,"gene_symbol":"HPS6","hgnc_symbol":"HPS6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:103825147-103827792","ensembl_id":"ENSG00000166189"}},"GRch38":{"90":{"location":"10:102065390-102068038","ensembl_id":"ENSG00000166189"}}},"hgnc_date_symbol_changed":"2004-02-04"},"entity_type":"gene","entity_name":"HPS6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Hermansky-Pudlak syndrome 6, MIM#\t614075"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":162,"hash_id":null,"name":"Pulmonary Fibrosis_Interstitial Lung Disease","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.","status":"public","version":"1.10","version_created":"2026-03-17T11:39:32.713501+11:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":97,"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"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EMAPII","EMAP-2","p43"],"biotype":"protein_coding","hgnc_id":"HGNC:10648","gene_name":"aminoacyl tRNA synthetase complex interacting multifunctional protein 1","omim_gene":["603605"],"alias_name":["EMAP II","ARS-interacting multifunctional protein 1"],"gene_symbol":"AIMP1","hgnc_symbol":"AIMP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:107236701-107270383","ensembl_id":"ENSG00000164022"}},"GRch38":{"90":{"location":"4:106315544-106349226","ensembl_id":"ENSG00000164022"}}},"hgnc_date_symbol_changed":"2009-05-20"},"entity_type":"gene","entity_name":"AIMP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21092922","24958424","33402283","32531460","30486714","30477741"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Leukodystrophy, hypomyelinating, 3, MIM# 260600"],"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":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSS","MPS3A","SFMD"],"biotype":"protein_coding","hgnc_id":"HGNC:10818","gene_name":"N-sulfoglucosamine sulfohydrolase","omim_gene":["605270"],"alias_name":["sulfamidase","mucopolysaccharidosis type IIIA"],"gene_symbol":"SGSH","hgnc_symbol":"SGSH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:78180515-78194722","ensembl_id":"ENSG00000181523"}},"GRch38":{"90":{"location":"17:80206716-80220923","ensembl_id":"ENSG00000181523"}}},"hgnc_date_symbol_changed":"1997-06-24"},"entity_type":"gene","entity_name":"SGSH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["21061399","30593151"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900"],"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":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0079"],"biotype":"protein_coding","hgnc_id":"HGNC:10705","gene_name":"SEC24 homolog C, COPII coat complex component","omim_gene":["607185"],"alias_name":null,"gene_symbol":"SEC24C","hgnc_symbol":"SEC24C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:75504120-75531919","ensembl_id":"ENSG00000176986"}},"GRch38":{"90":{"location":"10:73744384-73772161","ensembl_id":"ENSG00000176986"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"SEC24C","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40131364"],"evidence":["Expert Review Red","Literature","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, SEC24C-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":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ND1","NAD1"],"biotype":"protein_coding","hgnc_id":"HGNC:7455","gene_name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1","omim_gene":["516000"],"alias_name":["complex I ND1 subunit","NADH-ubiquinone oxidoreductase chain 1"],"gene_symbol":"MT-ND1","hgnc_symbol":"MT-ND1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:3307-4262","ensembl_id":"ENSG00000198888"}},"GRch38":{"90":{"location":"MT:3307-4262","ensembl_id":"ENSG00000198888"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-ND1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39147111","36717040","34656796"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-ND1-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"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":[]},{"gene_data":{"alias":["KARS2","KARS1"],"biotype":"protein_coding","hgnc_id":"HGNC:6215","gene_name":"lysyl-tRNA synthetase","omim_gene":["601421"],"alias_name":["lysine tRNA ligase"],"gene_symbol":"KARS","hgnc_symbol":"KARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:75661622-75682541","ensembl_id":"ENSG00000065427"}},"GRch38":{"90":{"location":"16:75627474-75648643","ensembl_id":"ENSG00000065427"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"KARS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23768514","23768514","14975237"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196","Deafness, autosomal recessive 89, MIM#\t613916"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:8616","gene_name":"paired box 2","omim_gene":["167409"],"alias_name":null,"gene_symbol":"PAX2","hgnc_symbol":"PAX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:102495360-102589698","ensembl_id":"ENSG00000075891"}},"GRch38":{"90":{"location":"10:100735603-100829941","ensembl_id":"ENSG00000075891"}}},"hgnc_date_symbol_changed":"1993-06-07"},"entity_type":"gene","entity_name":"PAX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16971658","8588587"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Papillorenal syndrome, MIM#\t120330"],"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":["PU.1","SPI-A","OF","SFPI1","SPI-1"],"biotype":"protein_coding","hgnc_id":"HGNC:11241","gene_name":"Spi-1 proto-oncogene","omim_gene":["165170"],"alias_name":["hematopoietic transcription factor PU.1","31 kDa transforming protein"],"gene_symbol":"SPI1","hgnc_symbol":"SPI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:47376411-47400127","ensembl_id":"ENSG00000066336"}},"GRch38":{"90":{"location":"11:47354860-47378576","ensembl_id":"ENSG00000066336"}}},"hgnc_date_symbol_changed":"1988-07-04"},"entity_type":"gene","entity_name":"SPI1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33951726"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Agammaglobulinaemia 10, autosomal dominant, MIM# 619707"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":222,"hash_id":null,"name":"Predominantly Antibody Deficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause predominantly antibody deficiency, including:\r\n- Agammaglobulinemia\r\n- Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia \r\n- CVID Phenotype\r\n- Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype\r\n- Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM\r\n- Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.4","version_created":"2025-09-11T18:11:50.640122+10:00","relevant_disorders":["Decreased immunoglobulin level","HP:0041078"],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11429","gene_name":"syntaxin 11","omim_gene":["605014"],"alias_name":null,"gene_symbol":"STX11","hgnc_symbol":"STX11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:144471663-144509507","ensembl_id":"ENSG00000135604"}},"GRch38":{"90":{"location":"6:144150526-144188370","ensembl_id":"ENSG00000135604"}}},"hgnc_date_symbol_changed":"1998-11-30"},"entity_type":"gene","entity_name":"STX11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15703195","16278825","16582076","24459464"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.43","version_created":"2026-04-06T13:01:39.255117+10:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":118,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12563","gene_name":"uridine monophosphate synthetase","omim_gene":["613891"],"alias_name":["orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"],"gene_symbol":"UMPS","hgnc_symbol":"UMPS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:124449213-124464040","ensembl_id":"ENSG00000114491"}},"GRch38":{"90":{"location":"3:124730366-124749273","ensembl_id":"ENSG00000114491"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"UMPS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9042911","33489760"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Orotic aciduria MIM# 258900"],"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":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"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":["DJ1042K10.2","RUSC3","RabGAP-5","RABGAP5"],"biotype":"protein_coding","hgnc_id":"HGNC:25228","gene_name":"small G protein signaling modulator 3","omim_gene":["610440"],"alias_name":["RUN and SH3 containing 3"],"gene_symbol":"SGSM3","hgnc_symbol":"SGSM3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:40766595-40806293","ensembl_id":"ENSG00000100359"}},"GRch38":{"90":{"location":"22:40370591-40410289","ensembl_id":"ENSG00000100359"}}},"hgnc_date_symbol_changed":"2007-08-14"},"entity_type":"gene","entity_name":"SGSM3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37833060","39390489"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder, autosomal recessive 84, MIM#\t620401"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"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":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"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":["HUNKI","MCAP","CAP","HUNK1"],"biotype":"protein_coding","hgnc_id":"HGNC:13575","gene_name":"bromodomain containing 4","omim_gene":["608749"],"alias_name":["chromosome-associated protein"],"gene_symbol":"BRD4","hgnc_symbol":"BRD4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:15347647-15443356","ensembl_id":"ENSG00000141867"}},"GRch38":{"90":{"location":"19:15235519-15332545","ensembl_id":"ENSG00000141867"}}},"hgnc_date_symbol_changed":"2000-09-26"},"entity_type":"gene","entity_name":"BRD4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29379197","30302754","11997514","34035299"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Cornelia de Lange syndrome"],"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":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"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":["Mi-2b","Mi2-BETA"],"biotype":"protein_coding","hgnc_id":"HGNC:1919","gene_name":"chromodomain helicase DNA binding protein 4","omim_gene":["603277"],"alias_name":null,"gene_symbol":"CHD4","hgnc_symbol":"CHD4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:6679249-6716642","ensembl_id":"ENSG00000111642"}},"GRch38":{"90":{"location":"12:6570083-6607476","ensembl_id":"ENSG00000111642"}}},"hgnc_date_symbol_changed":"1998-03-20"},"entity_type":"gene","entity_name":"CHD4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31388190"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Sifrim-Hitz-Weiss syndrome, MIM 617159"],"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":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"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":["NAG"],"biotype":"protein_coding","hgnc_id":"HGNC:7632","gene_name":"N-acetyl-alpha-glucosaminidase","omim_gene":["609701"],"alias_name":["Sanfilippo disease IIIB"],"gene_symbol":"NAGLU","hgnc_symbol":"NAGLU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40688190-40696467","ensembl_id":"ENSG00000108784"}},"GRch38":{"90":{"location":"17:42536172-42544449","ensembl_id":"ENSG00000108784"}}},"hgnc_date_symbol_changed":"1995-09-15"},"entity_type":"gene","entity_name":"NAGLU","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review Amber","Royal Melbourne Hospital","Illumina TruGenome Clinical Sequencing Services","UKGTN","Radboud University Medical Center, Nijmegen","Expert Review Green","NHS GMS","Expert list","Emory Genetics Laboratory","Victorian Clinical Genetics Services"],"phenotypes":["Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920"],"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":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CDHR15"],"biotype":"protein_coding","hgnc_id":"HGNC:14674","gene_name":"protocadherin related 15","omim_gene":["605514"],"alias_name":["cadherin-related family member 15"],"gene_symbol":"PCDH15","hgnc_symbol":"PCDH15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:55562531-57387702","ensembl_id":"ENSG00000150275"}},"GRch38":{"90":{"location":"10:53802771-55627942","ensembl_id":"ENSG00000150275"}}},"hgnc_date_symbol_changed":"2001-02-27"},"entity_type":"gene","entity_name":"PCDH15","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Emory Genetics Laboratory","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ATP6","ATPase-6","Su6m"],"biotype":"protein_coding","hgnc_id":"HGNC:7414","gene_name":"mitochondrially encoded ATP synthase 6","omim_gene":["516060"],"alias_name":null,"gene_symbol":"MT-ATP6","hgnc_symbol":"MT-ATP6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:8527-9207","ensembl_id":"ENSG00000198899"}},"GRch38":{"90":{"location":"MT:8527-9207","ensembl_id":"ENSG00000198899"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-ATP6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40112238"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["BARS"],"biotype":"protein_coding","hgnc_id":"HGNC:2494","gene_name":"C-terminal binding protein 1","omim_gene":["602618"],"alias_name":["brefeldin A-ribosylated substrate"],"gene_symbol":"CTBP1","hgnc_symbol":"CTBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:1205236-1243741","ensembl_id":"ENSG00000159692"}},"GRch38":{"90":{"location":"4:1211448-1249953","ensembl_id":"ENSG00000159692"}}},"hgnc_date_symbol_changed":"1997-08-22"},"entity_type":"gene","entity_name":"CTBP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27094857","28955726","31041561"],"evidence":["Expert Review Green","Expert list","Expert Review Green","Expert list"],"phenotypes":["Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, MIM#617915"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["BART1","BART"],"biotype":"protein_coding","hgnc_id":"HGNC:17146","gene_name":"ADP ribosylation factor like GTPase 2 binding protein","omim_gene":["615407"],"alias_name":["binder of Arl2"],"gene_symbol":"ARL2BP","hgnc_symbol":"ARL2BP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:57279010-57287516","ensembl_id":"ENSG00000102931"}},"GRch38":{"90":{"location":"16:57245098-57253635","ensembl_id":"ENSG00000102931"}}},"hgnc_date_symbol_changed":"2004-02-12"},"entity_type":"gene","entity_name":"ARL2BP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Retinitis pigmentosa with or without situs inversus, 615434"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":277,"hash_id":null,"name":"Retinitis pigmentosa","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.","status":"public","version":"0.245","version_created":"2026-03-28T13:33:23.781842+11:00","relevant_disorders":["Abnormal retinal morphology","HP:0000479"],"stats":{"number_of_genes":159,"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:2711","gene_name":"dynactin subunit 1","omim_gene":["601143"],"alias_name":["p150 glued homolog (Drosophila)"],"gene_symbol":"DCTN1","hgnc_symbol":"DCTN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74588281-74619214","ensembl_id":"ENSG00000204843"}},"GRch38":{"90":{"location":"2:74361154-74392087","ensembl_id":"ENSG00000204843"}}},"hgnc_date_symbol_changed":"1995-10-03"},"entity_type":"gene","entity_name":"DCTN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["24343258"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Perry syndrome MIM#168605"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DALRD1"],"biotype":"protein_coding","hgnc_id":"HGNC:9870","gene_name":"arginyl-tRNA synthetase","omim_gene":["107820"],"alias_name":["arginine tRNA ligase 1, cytoplasmic"],"gene_symbol":"RARS","hgnc_symbol":"RARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:167913450-167946304","ensembl_id":"ENSG00000113643"}},"GRch38":{"90":{"location":"5:168486445-168519299","ensembl_id":"ENSG00000113643"}}},"hgnc_date_symbol_changed":"1996-10-26"},"entity_type":"gene","entity_name":"RARS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital","Expert Review Green","Australian Genomcis Health Alliance Leukodystrophy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Leukodystrophy, hypomyelinating, 9 616140"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ETFQO"],"biotype":"protein_coding","hgnc_id":"HGNC:3483","gene_name":"electron transfer flavoprotein dehydrogenase","omim_gene":["231675"],"alias_name":null,"gene_symbol":"ETFDH","hgnc_symbol":"ETFDH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:159593277-159630775","ensembl_id":"ENSG00000171503"}},"GRch38":{"90":{"location":"4:158672125-158709623","ensembl_id":"ENSG00000171503"}}},"hgnc_date_symbol_changed":"1993-12-13"},"entity_type":"gene","entity_name":"ETFDH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Mitochondrial Leukoencephalopathy","Glutaric Acidemia IIC"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AYP1","AGS3"],"biotype":"protein_coding","hgnc_id":"HGNC:24116","gene_name":"ribonuclease H2 subunit C","omim_gene":["610330"],"alias_name":["Aicardi-Goutieres syndrome 3"],"gene_symbol":"RNASEH2C","hgnc_symbol":"RNASEH2C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65482367-65488418","ensembl_id":"ENSG00000172922"}},"GRch38":{"90":{"location":"11:65714896-65720947","ensembl_id":"ENSG00000172922"}}},"hgnc_date_symbol_changed":"2006-08-17"},"entity_type":"gene","entity_name":"RNASEH2C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["16845400","23322642"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Aicardi-Goutieres syndrome 3, MIM#\t610329"],"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":["KIAA0078","hHR21","SCC1"],"biotype":"protein_coding","hgnc_id":"HGNC:9811","gene_name":"RAD21 cohesin complex component","omim_gene":["606462"],"alias_name":["sister chromatid cohesion 1","kleisin"],"gene_symbol":"RAD21","hgnc_symbol":"RAD21","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:117858174-117887105","ensembl_id":"ENSG00000164754"}},"GRch38":{"90":{"location":"8:116845935-116874866","ensembl_id":"ENSG00000164754"}}},"hgnc_date_symbol_changed":"1996-06-12"},"entity_type":"gene","entity_name":"RAD21","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14638363","32193685","25575569"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Mungan syndrome, MIM# 611376: Barrett esophagus, megaduodenum, cardiac abnormalities"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3087,"hash_id":null,"name":"Gastrointestinal neuromuscular disease","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel contains genes that cause disorders where intestinal pseudo-obstruction is a prominent feature of the condition.\r\n\r\nIt was previously known as 'Visceral Myopathy', and was developed and is maintained by RMH. It is a consensus panel used by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp \"Gastrointestinal neuromuscular disorders\" panel V1.15, 31/07/2021, with all discordances resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.26","version_created":"2026-03-26T19:32:59.997765+11:00","relevant_disorders":["Gastrointestinal dysmotility","HP:0002579"],"stats":{"number_of_genes":41,"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":["FLJ20644","G4-1","G5PR"],"biotype":"protein_coding","hgnc_id":"HGNC:17485","gene_name":"protein phosphatase 2 regulatory subunit B''gamma","omim_gene":["615902"],"alias_name":null,"gene_symbol":"PPP2R3C","hgnc_symbol":"PPP2R3C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:35554673-35591723","ensembl_id":"ENSG00000092020"}},"GRch38":{"90":{"location":"14:35085467-35122517","ensembl_id":"ENSG00000092020"}}},"hgnc_date_symbol_changed":"2007-01-22"},"entity_type":"gene","entity_name":"PPP2R3C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30893644","34714774","34750818"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM # 618419"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"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":["StAR","STARD1"],"biotype":"protein_coding","hgnc_id":"HGNC:11359","gene_name":"steroidogenic acute regulatory protein","omim_gene":["600617"],"alias_name":["StAR related lipid transfer (START) domain containing 1"],"gene_symbol":"STAR","hgnc_symbol":"STAR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:38001167-38008783","ensembl_id":"ENSG00000147465"}},"GRch38":{"90":{"location":"8:38143649-38151265","ensembl_id":"ENSG00000147465"}}},"hgnc_date_symbol_changed":"1996-04-24"},"entity_type":"gene","entity_name":"STAR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Lipoid adrenal hyperplasia, 201710 (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":["DAPLE","HkRP2","SCA40"],"biotype":"protein_coding","hgnc_id":"HGNC:19967","gene_name":"coiled-coil domain containing 88C","omim_gene":["611204"],"alias_name":["Dvl-associating protein with a high frequency of leucine residues","spinocerebellar ataxia 40"],"gene_symbol":"CCDC88C","hgnc_symbol":"CCDC88C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:91737667-91884188","ensembl_id":"ENSG00000015133"}},"GRch38":{"90":{"location":"14:91271323-91417844","ensembl_id":"ENSG00000015133"}}},"hgnc_date_symbol_changed":"2007-05-31"},"entity_type":"gene","entity_name":"CCDC88C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8654","gene_name":"propionyl-CoA carboxylase beta subunit","omim_gene":["232050"],"alias_name":null,"gene_symbol":"PCCB","hgnc_symbol":"PCCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:135969148-136056738","ensembl_id":"ENSG00000114054"}},"GRch38":{"90":{"location":"3:136250306-136337896","ensembl_id":"ENSG00000114054"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PCCB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Propionicacidemia, 606054 (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":["LAS"],"biotype":"protein_coding","hgnc_id":"HGNC:16429","gene_name":"lipoic acid synthetase","omim_gene":["607031"],"alias_name":null,"gene_symbol":"LIAS","hgnc_symbol":"LIAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:39460620-39479273","ensembl_id":"ENSG00000121897"}},"GRch38":{"90":{"location":"4:39458587-39485109","ensembl_id":"ENSG00000121897"}}},"hgnc_date_symbol_changed":"2001-11-30"},"entity_type":"gene","entity_name":"LIAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 (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":["CEMCOX2"],"biotype":"protein_coding","hgnc_id":"HGNC:2263","gene_name":"COX15, cytochrome c oxidase assembly homolog","omim_gene":["603646"],"alias_name":null,"gene_symbol":"COX15","hgnc_symbol":"COX15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:101471601-101491857","ensembl_id":"ENSG00000014919"}},"GRch38":{"90":{"location":"10:99711844-99732100","ensembl_id":"ENSG00000014919"}}},"hgnc_date_symbol_changed":"1998-07-03"},"entity_type":"gene","entity_name":"COX15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (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":["ST3GalV","SIATGM3S"],"biotype":"protein_coding","hgnc_id":"HGNC:10872","gene_name":"ST3 beta-galactoside alpha-2,3-sialyltransferase 5","omim_gene":["604402"],"alias_name":null,"gene_symbol":"ST3GAL5","hgnc_symbol":"ST3GAL5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:86066267-86116137","ensembl_id":"ENSG00000115525"}},"GRch38":{"90":{"location":"2:85837120-85905199","ensembl_id":"ENSG00000115525"}}},"hgnc_date_symbol_changed":"2005-02-07"},"entity_type":"gene","entity_name":"ST3GAL5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Salt and pepper developmental regression syndrome, 609056 (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":["NR3A2","Erb","ER-beta"],"biotype":"protein_coding","hgnc_id":"HGNC:3468","gene_name":"estrogen receptor 2","omim_gene":["601663"],"alias_name":["ER beta","estrogen receptor beta","oestrogen receptor beta","nuclear receptor subfamily 3 group A member 2"],"gene_symbol":"ESR2","hgnc_symbol":"ESR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:64550950-64804830","ensembl_id":"ENSG00000140009"}},"GRch38":{"90":{"location":"14:64084232-64338112","ensembl_id":"ENSG00000140009"}}},"hgnc_date_symbol_changed":"1997-01-17"},"entity_type":"gene","entity_name":"ESR2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Expert Review Amber","Royal Melbourne Hospital"],"phenotypes":["?Ovarian dysgenesis 8 618187"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.410","version_created":"2026-04-06T10:52:55.877866+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5022","gene_name":"forkhead box A2","omim_gene":["600288"],"alias_name":null,"gene_symbol":"FOXA2","hgnc_symbol":"FOXA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:22561643-22566093","ensembl_id":"ENSG00000125798"}},"GRch38":{"90":{"location":"20:22581005-22585455","ensembl_id":"ENSG00000125798"}}},"hgnc_date_symbol_changed":"2002-09-20"},"entity_type":"gene","entity_name":"FOXA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28973288, 29329447, 30414530, 33729509, 31294511, 33999151"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Hypopituitarism, MONDO:0005152","Hyperinsulinism, MONDO:0002177"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3236,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.208","version_created":"2026-04-02T15:15:10.893013+11:00","relevant_disorders":["Hypopituitarism","HP:0040075"],"stats":{"number_of_genes":118,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["VIP-21","LGMD1C","VIP21","LQT9"],"biotype":"protein_coding","hgnc_id":"HGNC:1529","gene_name":"caveolin 3","omim_gene":["601253"],"alias_name":["M-caveolin"],"gene_symbol":"CAV3","hgnc_symbol":"CAV3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:8775486-8883492","ensembl_id":"ENSG00000182533"}},"GRch38":{"90":{"location":"3:8733800-8841808","ensembl_id":"ENSG00000182533"}}},"hgnc_date_symbol_changed":"1998-05-14"},"entity_type":"gene","entity_name":"CAV3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene","BabySeq Category A gene"],"phenotypes":["Muscular dystrophy, limb-girdle, type IC","Caveolinopathy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Nav1.5","LQT3","HB1","HBBD","PFHB1","IVF","HB2","HH1","SSS1","CDCD2","CMPD2","ICCD"],"biotype":"protein_coding","hgnc_id":"HGNC:10593","gene_name":"sodium voltage-gated channel alpha subunit 5","omim_gene":["600163"],"alias_name":["long QT syndrome 3"],"gene_symbol":"SCN5A","hgnc_symbol":"SCN5A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:38589548-38691164","ensembl_id":"ENSG00000183873"}},"GRch38":{"90":{"location":"3:38548057-38649673","ensembl_id":"ENSG00000183873"}}},"hgnc_date_symbol_changed":"1992-04-10"},"entity_type":"gene","entity_name":"SCN5A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category B gene"],"phenotypes":["Brugada syndrome","Long QT syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LEAP-1","HEPC","HFE2B","LEAP1"],"biotype":"protein_coding","hgnc_id":"HGNC:15598","gene_name":"hepcidin antimicrobial peptide","omim_gene":["606464"],"alias_name":null,"gene_symbol":"HAMP","hgnc_symbol":"HAMP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:35771619-35776046","ensembl_id":"ENSG00000105697"}},"GRch38":{"90":{"location":"19:35280716-35285143","ensembl_id":"ENSG00000105697"}}},"hgnc_date_symbol_changed":"2001-05-29"},"entity_type":"gene","entity_name":"HAMP","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Haemochromatosis"],"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":["PEO","PEO1","TWINKLE","FLJ21832","TWINL"],"biotype":"protein_coding","hgnc_id":"HGNC:1160","gene_name":"twinkle mtDNA helicase","omim_gene":["606075"],"alias_name":["T7 helicase-related protein with intramitochondrial nucleoid localization"],"gene_symbol":"TWNK","hgnc_symbol":"TWNK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:102747124-102754158","ensembl_id":"ENSG00000107815"}},"GRch38":{"90":{"location":"10:100987367-100994401","ensembl_id":"ENSG00000107815"}}},"hgnc_date_symbol_changed":"2016-10-11"},"entity_type":"gene","entity_name":"TWNK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Spinocerebellar ataxia infantile-onset"],"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":["KARS2","KARS1"],"biotype":"protein_coding","hgnc_id":"HGNC:6215","gene_name":"lysyl-tRNA synthetase","omim_gene":["601421"],"alias_name":["lysine tRNA ligase"],"gene_symbol":"KARS","hgnc_symbol":"KARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:75661622-75682541","ensembl_id":"ENSG00000065427"}},"GRch38":{"90":{"location":"16:75627474-75648643","ensembl_id":"ENSG00000065427"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"KARS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30737337","31116475","30715177"],"evidence":["Expert Review Green","BabySeq Category C gene"],"phenotypes":["deafness with progressive leukodystrophy"],"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:15832","gene_name":"BSCL2, seipin lipid droplet biogenesis associated","omim_gene":["606158"],"alias_name":null,"gene_symbol":"BSCL2","hgnc_symbol":"BSCL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:62457747-62477317","ensembl_id":"ENSG00000168000"}},"GRch38":{"90":{"location":"11:62690275-62709845","ensembl_id":"ENSG00000168000"}}},"hgnc_date_symbol_changed":"2001-07-02"},"entity_type":"gene","entity_name":"BSCL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene","BabySeq Category A gene"],"phenotypes":["Berardinelli-Seip lipodystrophy","Lipodystrophy, congenital generalized, type 2, MIM# 269700"],"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:186","gene_name":"adenosine deaminase","omim_gene":["608958"],"alias_name":null,"gene_symbol":"ADA","hgnc_symbol":"ADA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:43248163-43280874","ensembl_id":"ENSG00000196839"}},"GRch38":{"90":{"location":"20:44619522-44652233","ensembl_id":"ENSG00000196839"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ADA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Severe combined immunodeficiency due to ADA deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MFH-1"],"biotype":"protein_coding","hgnc_id":"HGNC:3801","gene_name":"forkhead box C2","omim_gene":["602402"],"alias_name":["mesenchyme forkhead 1"],"gene_symbol":"FOXC2","hgnc_symbol":"FOXC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:86600857-86602539","ensembl_id":"ENSG00000176692"}},"GRch38":{"90":{"location":"16:86567251-86569728","ensembl_id":"ENSG00000176692"}}},"hgnc_date_symbol_changed":"1997-02-14"},"entity_type":"gene","entity_name":"FOXC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":["Cleft palate","LYMPHEDEMA-DISTICHIASIS SYNDROME"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8512","gene_name":"ornithine carbamoyltransferase","omim_gene":["300461"],"alias_name":null,"gene_symbol":"OTC","hgnc_symbol":"OTC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:38211798-38280703","ensembl_id":"ENSG00000036473"}},"GRch38":{"90":{"location":"X:38352545-38421450","ensembl_id":"ENSG00000036473"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"OTC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["2983225"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Ornithine transcarbamylase deficiency, 311250"],"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":3470,"hash_id":null,"name":"Hyperammonaemia","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with urea cycle disorders and other metabolic conditions that cause hyperammonaemia.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"0.10","version_created":"2023-03-02T14:41:08.610876+11:00","relevant_disorders":["Hyperammonaemia","HP:0001987"],"stats":{"number_of_genes":43,"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":"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:23383","gene_name":"zinc finger and BTB domain containing 26","omim_gene":null,"alias_name":null,"gene_symbol":"ZBTB26","hgnc_symbol":"ZBTB26","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:125677845-125693779","ensembl_id":"ENSG00000171448"}},"GRch38":{"90":{"location":"9:122915566-122931500","ensembl_id":"ENSG00000171448"}}},"hgnc_date_symbol_changed":"2004-04-16"},"entity_type":"gene","entity_name":"ZBTB26","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34946811"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Congenital hypothyroidism MONDO:0018612"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3471,"hash_id":null,"name":"Congenital hypothyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Thyroid disorders","description":"This panel contains genes associated with congenital hypothyroidism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'congenital hypothyroidism' panel V3.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.120","version_created":"2026-04-02T11:51:29.895216+11:00","relevant_disorders":["Hypothyroidism HP:0000821"],"stats":{"number_of_genes":63,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"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":["HUNKI","MCAP","CAP","HUNK1"],"biotype":"protein_coding","hgnc_id":"HGNC:13575","gene_name":"bromodomain containing 4","omim_gene":["608749"],"alias_name":["chromosome-associated protein"],"gene_symbol":"BRD4","hgnc_symbol":"BRD4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:15347647-15443356","ensembl_id":"ENSG00000141867"}},"GRch38":{"90":{"location":"19:15235519-15332545","ensembl_id":"ENSG00000141867"}}},"hgnc_date_symbol_changed":"2000-09-26"},"entity_type":"gene","entity_name":"BRD4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29379197","30302754","11997514","34035299"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cornelia de Lange syndrome, MONDO:0016033"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:28434","gene_name":"cyclin Q","omim_gene":["300708"],"alias_name":null,"gene_symbol":"FAM58A","hgnc_symbol":"CCNQ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch38":{"90":{"location":"X:153587919-153600045","ensembl_id":"ENSG00000262919"}}},"hgnc_date_symbol_changed":"2017-07-14"},"entity_type":"gene","entity_name":"FAM58A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green"],"phenotypes":["STAR syndrome 300707"],"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":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":[],"biotype":"protein_coding","hgnc_id":"HGNC:14244","gene_name":"RAB18, member RAS oncogene family","omim_gene":["602207"],"alias_name":null,"gene_symbol":"RAB18","hgnc_symbol":"RAB18","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:27793197-27831143","ensembl_id":"ENSG00000099246"}},"GRch38":{"90":{"location":"10:27504174-27542237","ensembl_id":"ENSG00000099246"}}},"hgnc_date_symbol_changed":"2000-12-12"},"entity_type":"gene","entity_name":"RAB18","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21473985","23420520","11237903"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Warburg micro syndrome 3, MIM# 614222"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["UNQ6077","FLJ39207","KIAA0268","TANGO","TANGO1"],"biotype":"protein_coding","hgnc_id":"HGNC:24008","gene_name":"MIA family member 3, ER export factor","omim_gene":["613455"],"alias_name":["C219 reactive peptide","transport and golgi organization"],"gene_symbol":"MIA3","hgnc_symbol":"MIA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:222791428-222841354","ensembl_id":"ENSG00000154305"}},"GRch38":{"90":{"location":"1:222618086-222668012","ensembl_id":"ENSG00000154305"}}},"hgnc_date_symbol_changed":"2006-07-25"},"entity_type":"gene","entity_name":"MIA3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 32101163","33778321","40948380","40119123"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Dnahc11","DPL11","CILD7","DNAHC11","DNAHBL","DNHBL"],"biotype":"protein_coding","hgnc_id":"HGNC:2942","gene_name":"dynein axonemal heavy chain 11","omim_gene":["603339"],"alias_name":["dynein, ciliary, heavy chain 11","dynein, heavy chain beta-like"],"gene_symbol":"DNAH11","hgnc_symbol":"DNAH11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:21582833-21941457","ensembl_id":"ENSG00000105877"}},"GRch38":{"90":{"location":"7:21543215-21901839","ensembl_id":"ENSG00000105877"}}},"hgnc_date_symbol_changed":"1999-02-15"},"entity_type":"gene","entity_name":"DNAH11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12142464","18022865","22102620","32633470","31879361","31765523","31040315"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SHAPY","SCAN-1"],"biotype":"protein_coding","hgnc_id":"HGNC:19721","gene_name":"calcium activated nucleotidase 1","omim_gene":["613165"],"alias_name":["Soluble Ca-Activated Nucleotidase, isozyme 1"],"gene_symbol":"CANT1","hgnc_symbol":"CANT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:76987799-77005949","ensembl_id":"ENSG00000171302"}},"GRch38":{"90":{"location":"17:78991717-79009867","ensembl_id":"ENSG00000171302"}}},"hgnc_date_symbol_changed":"2004-10-15"},"entity_type":"gene","entity_name":"CANT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Desbuquois dysplasia 1, MIM# 251450"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GBP","LCEH","LCHAD","MTPA"],"biotype":"protein_coding","hgnc_id":"HGNC:4801","gene_name":"hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha","omim_gene":["600890"],"alias_name":["gastrin-binding protein","long-chain-3-hydroxyacyl-CoA dehydrogenase","long-chain 2-enoyl-CoA hydratase","mitochondrial trifunctional protein, alpha subunit"],"gene_symbol":"HADHA","hgnc_symbol":"HADHA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:26413504-26467594","ensembl_id":"ENSG00000084754"}},"GRch38":{"90":{"location":"2:26190635-26244726","ensembl_id":"ENSG00000084754"}}},"hgnc_date_symbol_changed":"1994-12-16"},"entity_type":"gene","entity_name":"HADHA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["LCHAD deficiency, MIM# 609016"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"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":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category A gene"],"phenotypes":["Multiple endocrine neoplasia 1, MIM#131100"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["cancer","treatable"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ZNF673B"],"biotype":"protein_coding","hgnc_id":"HGNC:17625","gene_name":"zinc finger protein 674","omim_gene":["300573"],"alias_name":null,"gene_symbol":"ZNF674","hgnc_symbol":"ZNF674","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:46357162-46404892","ensembl_id":"ENSG00000251192"}},"GRch38":{"90":{"location":"X:46497727-46545457","ensembl_id":"ENSG00000251192"}}},"hgnc_date_symbol_changed":"2005-10-27"},"entity_type":"gene","entity_name":"ZNF674","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Mental retardation"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["MGC33835","dJ510O8.8","Tmhs"],"biotype":"protein_coding","hgnc_id":"HGNC:21253","gene_name":"LHFPL tetraspan subfamily member 5","omim_gene":["609427"],"alias_name":["tetraspan membrane protein of hair cell stereocilia"],"gene_symbol":"LHFPL5","hgnc_symbol":"LHFPL5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:35773070-35801651","ensembl_id":"ENSG00000197753"}},"GRch38":{"90":{"location":"6:35805293-35833874","ensembl_id":"ENSG00000197753"}}},"hgnc_date_symbol_changed":"2003-11-26"},"entity_type":"gene","entity_name":"LHFPL5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Deafness, autosomal recessive 67, MIM# 610265"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deafness"],"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:12637","gene_name":"lysine demethylase 6A","omim_gene":["300128"],"alias_name":null,"gene_symbol":"KDM6A","hgnc_symbol":"KDM6A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:44732757-44971847","ensembl_id":"ENSG00000147050"}},"GRch38":{"90":{"location":"X:44873177-45112602","ensembl_id":"ENSG00000147050"}}},"hgnc_date_symbol_changed":"2009-04-17"},"entity_type":"gene","entity_name":"KDM6A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Kabuki syndrome 2, MIM#300867"],"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":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":["FLJ20487","SDH5"],"biotype":"protein_coding","hgnc_id":"HGNC:26034","gene_name":"succinate dehydrogenase complex assembly factor 2","omim_gene":["613019"],"alias_name":null,"gene_symbol":"SDHAF2","hgnc_symbol":"SDHAF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:61197514-61215001","ensembl_id":"ENSG00000167985"}},"GRch38":{"90":{"location":"11:61430042-61447529","ensembl_id":"ENSG00000167985"}}},"hgnc_date_symbol_changed":"2009-08-10"},"entity_type":"gene","entity_name":"SDHAF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance"],"phenotypes":["Paragangliomas 2, MIM# 601650"],"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":["GALA"],"biotype":"protein_coding","hgnc_id":"HGNC:4296","gene_name":"galactosidase alpha","omim_gene":["300644"],"alias_name":null,"gene_symbol":"GLA","hgnc_symbol":"GLA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:100652791-100662913","ensembl_id":"ENSG00000102393"}},"GRch38":{"90":{"location":"X:101397803-101407925","ensembl_id":"ENSG00000102393"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"GLA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17224688","29649853","26937390","20301469"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Fabry disease, MIM#301500"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["FMRP","FRAXA","MGC87458"],"biotype":"protein_coding","hgnc_id":"HGNC:3775","gene_name":"fragile X mental retardation 1","omim_gene":["309550"],"alias_name":null,"gene_symbol":"FMR1","hgnc_symbol":"FMR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:146993469-147032645","ensembl_id":"ENSG00000102081"}},"GRch38":{"90":{"location":"X:147911951-147951125","ensembl_id":"ENSG00000102081"}}},"hgnc_date_symbol_changed":"1992-01-17"},"entity_type":"gene","entity_name":"FMR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301558","28176767","29178241"],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Fragile X syndrome, MIM #300624"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["p53","LFS1"],"biotype":"protein_coding","hgnc_id":"HGNC:11998","gene_name":"tumor protein p53","omim_gene":["191170"],"alias_name":["Li-Fraumeni syndrome"],"gene_symbol":"TP53","hgnc_symbol":"TP53","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7565097-7590856","ensembl_id":"ENSG00000141510"}},"GRch38":{"90":{"location":"17:7661779-7687550","ensembl_id":"ENSG00000141510"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"TP53","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Endometrial cancer, MONDO:0011962","Li-Fraumeni syndrome, MONDO:0018875","Li-Fraumeni syndrome, MIM#151623"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4373,"hash_id":null,"name":"Endometrial Cancer","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with endometrial 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 endometrial 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":"2024-11-01T16:28:51.012692+11:00","relevant_disorders":[],"stats":{"number_of_genes":10,"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":["XPAC","XP1"],"biotype":"protein_coding","hgnc_id":"HGNC:12814","gene_name":"XPA, DNA damage recognition and repair factor","omim_gene":["611153"],"alias_name":null,"gene_symbol":"XPA","hgnc_symbol":"XPA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:100437191-100459639","ensembl_id":"ENSG00000136936"}},"GRch38":{"90":{"location":"9:97674909-97697357","ensembl_id":"ENSG00000136936"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"XPA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["2234061","1372102"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["xeroderma pigmentosum group A MONDO:0010210"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4457,"hash_id":null,"name":"Hereditary Pigmentary Disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum","status":"public","version":"1.5","version_created":"2026-01-02T16:51:24.217185+11:00","relevant_disorders":["Abnormality of skin pigmentation","HP:0001000"],"stats":{"number_of_genes":41,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["THP2","HPE9","THP1"],"biotype":"protein_coding","hgnc_id":"HGNC:4318","gene_name":"GLI family zinc finger 2","omim_gene":["165230"],"alias_name":["tax-responsive element-2 holding protein","tax helper protein 1","tax helper protein 2"],"gene_symbol":"GLI2","hgnc_symbol":"GLI2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:121493199-121750229","ensembl_id":"ENSG00000074047"}},"GRch38":{"90":{"location":"2:120735623-120992653","ensembl_id":"ENSG00000074047"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"GLI2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14581620","17096318","33235745","27585885","15994174","20685856","30629636","30583238"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Culler-Jones syndrome (615849)","Holoprosencephaly 9 (610829)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":4523,"hash_id":null,"name":"Adrenal insufficiency","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","description":"This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.","status":"public","version":"0.76","version_created":"2026-03-19T16:21:18.336273+11:00","relevant_disorders":[],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"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":["FLJ39378"],"biotype":"protein_coding","hgnc_id":"HGNC:26814","gene_name":"Rab interacting lysosomal protein like 1","omim_gene":["614092"],"alias_name":null,"gene_symbol":"RILPL1","hgnc_symbol":"RILPL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:123955925-124018265","ensembl_id":"ENSG00000188026"}},"GRch38":{"90":{"location":"12:123470054-123533718","ensembl_id":"ENSG00000188026"}}},"hgnc_date_symbol_changed":"2007-11-27"},"entity_type":"str","entity_name":"RILPL1_OPDM4_CGG","confidence_level":"3","penetrance":null,"publications":["35148830"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Oculopharyngodistal myopathy MONDO:0025193"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CGG","chromosome":"12","grch37_coordinates":[124018270,124018296],"grch38_coordinates":[123533723,123533749],"normal_repeats":16,"pathogenic_repeats":139,"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":"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":[]}}]}