{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=308","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=306","results":[{"gene_data":{"alias":["PPP1R115"],"biotype":"protein_coding","hgnc_id":"HGNC:8104","gene_name":"occludin","omim_gene":["602876"],"alias_name":["tight junction protein occludin TM4 minus","phosphatase 1, regulatory subunit 115"],"gene_symbol":"OCLN","hgnc_symbol":"OCLN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:68788119-68853931","ensembl_id":"ENSG00000197822"}},"GRch38":{"90":{"location":"5:69492292-69558104","ensembl_id":"ENSG00000197822"}}},"hgnc_date_symbol_changed":"1998-01-20"},"entity_type":"gene","entity_name":"OCLN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":18,"hash_id":null,"name":"Polymicrogyria and Schizencephaly","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\nPlease consider the broader 'Malformations of cortical development' superpanel, particularly in the presence of complex or atypical imaging findings.","status":"public","version":"0.204","version_created":"2025-12-18T09:49:46.643708+11:00","relevant_disorders":["Polymicrogyria","HP:0002126;Schizencephaly","HP:0010636"],"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TLS","FUS1","hnRNP-P2","HNRNPP2"],"biotype":"protein_coding","hgnc_id":"HGNC:4010","gene_name":"FUS RNA binding protein","omim_gene":["137070"],"alias_name":["heterogeneous nuclear ribonucleoprotein P2","translocated in liposarcoma"],"gene_symbol":"FUS","hgnc_symbol":"FUS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:31191431-31203127","ensembl_id":"ENSG00000089280"}},"GRch38":{"90":{"location":"16:31180110-31194871","ensembl_id":"ENSG00000089280"}}},"hgnc_date_symbol_changed":"1992-11-26"},"entity_type":"gene","entity_name":"FUS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["22863194","23834483","23825177","38626532"],"evidence":["Expert Review Red","Literature"],"phenotypes":["tremor, hereditary essential, 4\tMONDO:0013888"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":26,"hash_id":null,"name":"Early-onset Parkinson disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"2.51","version_created":"2026-03-30T11:47:22.375379+11:00","relevant_disorders":["Abnormality of extrapyramidal motor function","HP:0002071"],"stats":{"number_of_genes":129,"number_of_strs":14,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0710","hPAN2"],"biotype":"protein_coding","hgnc_id":"HGNC:20074","gene_name":"PAN2 poly(A) specific ribonuclease subunit","omim_gene":["617447"],"alias_name":["PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"],"gene_symbol":"PAN2","hgnc_symbol":"PAN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:56710007-56727837","ensembl_id":"ENSG00000135473"}},"GRch38":{"90":{"location":"12:56316223-56334053","ensembl_id":"ENSG00000135473"}}},"hgnc_date_symbol_changed":"2008-01-08"},"entity_type":"gene","entity_name":"PAN2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID:35304602","29620724"],"evidence":["Expert Review Green","Literature","Expert Review Green"],"phenotypes":["Developmental delay with variable cardiac and renal congenital anomalies and dysmoprhic facies, MIM#\t621384"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":63,"hash_id":null,"name":"Congenital anomalies of the kidney and urinary tract (CAKUT)","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel contains genes associated with nonsyndromic and syndromic congenital anomalies of the kidney and urinary tract (CAKUT).","status":"public","version":"0.204","version_created":"2026-03-19T13:24:30.325727+11:00","relevant_disorders":["Abnormality of the urinary system HP:0000079"],"stats":{"number_of_genes":124,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10782"],"biotype":"protein_coding","hgnc_id":"HGNC:19366","gene_name":"pantothenate kinase 4","omim_gene":["606162"],"alias_name":null,"gene_symbol":"PANK4","hgnc_symbol":"PANK4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:2439972-2458039","ensembl_id":"ENSG00000157881"}},"GRch38":{"90":{"location":"1:2508533-2526628","ensembl_id":"ENSG00000157881"}}},"hgnc_date_symbol_changed":"2002-10-11"},"entity_type":"gene","entity_name":"PANK4","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["30585370"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Cataract 49, MIM# 619593","Congenital posterior cataract"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["H-YPT3"],"biotype":"protein_coding","hgnc_id":"HGNC:9761","gene_name":"RAB11B, member RAS oncogene family","omim_gene":["604198"],"alias_name":null,"gene_symbol":"RAB11B","hgnc_symbol":"RAB11B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:8454865-8469318","ensembl_id":"ENSG00000185236"}},"GRch38":{"90":{"location":"19:8389981-8404434","ensembl_id":"ENSG00000185236"}}},"hgnc_date_symbol_changed":"1999-02-23"},"entity_type":"gene","entity_name":"RAB11B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["29106825"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (MIM#617807)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":72,"hash_id":null,"name":"Cerebellar and Pontocerebellar Hypoplasia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the panels used by VCGS and RMH and is a consensus panel maintained by both.","status":"public","version":"1.100","version_created":"2026-04-02T11:42:58.167964+11:00","relevant_disorders":["Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879"],"stats":{"number_of_genes":122,"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":["beta-5"],"biotype":"protein_coding","hgnc_id":"HGNC:20774","gene_name":"tubulin beta 4A class IVa","omim_gene":["602662"],"alias_name":["class IVa beta-tubulin"],"gene_symbol":"TUBB4A","hgnc_symbol":"TUBB4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:6494330-6502859","ensembl_id":"ENSG00000104833"}},"GRch38":{"90":{"location":"19:6494319-6502848","ensembl_id":"ENSG00000104833"}}},"hgnc_date_symbol_changed":"2011-10-10"},"entity_type":"gene","entity_name":"TUBB4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34531397","33528536","38693247"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Dystonia 4, torsion, autosomal dominant, OMIM #128101","Leukodystrophy, hypomyelinating, 6, OMIM # 612438"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ21816","FANCN"],"biotype":"protein_coding","hgnc_id":"HGNC:26144","gene_name":"partner and localizer of BRCA2","omim_gene":["610355"],"alias_name":["Fanconi anemia, complementation group N"],"gene_symbol":"PALB2","hgnc_symbol":"PALB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:23614488-23652631","ensembl_id":"ENSG00000083093"}},"GRch38":{"90":{"location":"16:23603160-23641310","ensembl_id":"ENSG00000083093"}}},"hgnc_date_symbol_changed":"2007-01-15"},"entity_type":"gene","entity_name":"PALB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anaemia, complementation group N, MIM# 610832"],"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":["Dnahc14","HL-18","HL18","DKFZp781B1548","MGC27277"],"biotype":"protein_coding","hgnc_id":"HGNC:2945","gene_name":"dynein axonemal heavy chain 14","omim_gene":["603341"],"alias_name":null,"gene_symbol":"DNAH14","hgnc_symbol":"DNAH14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:225083964-225586996","ensembl_id":"ENSG00000185842"}},"GRch38":{"90":{"location":"1:224896262-225399292","ensembl_id":"ENSG00000185842"}}},"hgnc_date_symbol_changed":"1997-02-05"},"entity_type":"gene","entity_name":"DNAH14","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Red","ClinGen"],"phenotypes":["Primary ciliary dyskinesia, MONDO:0016575"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["disputed"],"panel":{"id":82,"hash_id":null,"name":"Ciliary Dyskinesia","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.75","version_created":"2026-03-30T10:17:46.701193+11:00","relevant_disorders":["Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205"],"stats":{"number_of_genes":77,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["bA504H3.3","HOVO2","CHED"],"biotype":"protein_coding","hgnc_id":"HGNC:15804","gene_name":"ovo like zinc finger 2","omim_gene":["616441"],"alias_name":null,"gene_symbol":"OVOL2","hgnc_symbol":"OVOL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:17937623-18039832","ensembl_id":"ENSG00000125850"}},"GRch38":{"90":{"location":"20:17956979-18059188","ensembl_id":"ENSG00000125850"}}},"hgnc_date_symbol_changed":"2005-05-31"},"entity_type":"gene","entity_name":"OVOL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26749309"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Corneal dystrophy, posterior polymorphous, 1, MIM# 122000"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["5'UTR"],"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":["Dnahc5","HL1","PCD","CILD3","KTGNR"],"biotype":"protein_coding","hgnc_id":"HGNC:2950","gene_name":"dynein axonemal heavy chain 5","omim_gene":["603335"],"alias_name":["dynein heavy chain 5"],"gene_symbol":"DNAH5","hgnc_symbol":"DNAH5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:13690440-13944652","ensembl_id":"ENSG00000039139"}},"GRch38":{"90":{"location":"5:13690331-13944543","ensembl_id":"ENSG00000039139"}}},"hgnc_date_symbol_changed":"1995-11-15"},"entity_type":"gene","entity_name":"DNAH5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16627867"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":108,"hash_id":null,"name":"Heterotaxy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Laterality disorders and isomerism' panel V1.19, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.45","version_created":"2026-03-17T16:09:39.911604+11:00","relevant_disorders":["Heterotaxy","HP:0030853; Dextrocardia","HP:0001651; Asplenia","HP:0001746; Abnormal spatial orientation of cardiac segments","HP:0011534; Polysplenia","HP:0001748;Midline liver","HP:0034188"],"stats":{"number_of_genes":67,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["S2P"],"biotype":"protein_coding","hgnc_id":"HGNC:15455","gene_name":"membrane bound transcription factor peptidase, site 2","omim_gene":["300294"],"alias_name":["site-2 protease"],"gene_symbol":"MBTPS2","hgnc_symbol":"MBTPS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:21857754-21903542","ensembl_id":"ENSG00000012174"}},"GRch38":{"90":{"location":"X:21839636-21885424","ensembl_id":"ENSG00000012174"}}},"hgnc_date_symbol_changed":"2001-03-30"},"entity_type":"gene","entity_name":"MBTPS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["19361614","21426410"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["IFAP syndrome with or without BRESHECK syndrome MIM#308205","follicular ichthyosis","atrichia of the scalp","photophobia"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["AD3L","STM2","PS2"],"biotype":"protein_coding","hgnc_id":"HGNC:9509","gene_name":"presenilin 2","omim_gene":["600759"],"alias_name":null,"gene_symbol":"PSEN2","hgnc_symbol":"PSEN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:227057885-227083806","ensembl_id":"ENSG00000143801"}},"GRch38":{"90":{"location":"1:226870184-226896105","ensembl_id":"ENSG00000143801"}}},"hgnc_date_symbol_changed":"1995-08-30"},"entity_type":"gene","entity_name":"PSEN2","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":126,"hash_id":null,"name":"Incidentalome","disease_group":"","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["JTK12","CD140b","PDGFR1"],"biotype":"protein_coding","hgnc_id":"HGNC:8804","gene_name":"platelet derived growth factor receptor beta","omim_gene":["173410"],"alias_name":null,"gene_symbol":"PDGFRB","hgnc_symbol":"PDGFRB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:149493400-149535435","ensembl_id":"ENSG00000113721"}},"GRch38":{"90":{"location":"5:150113837-150155872","ensembl_id":"ENSG00000113721"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PDGFRB","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":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HOT7T175","AXOR12"],"biotype":"protein_coding","hgnc_id":"HGNC:4510","gene_name":"KISS1 receptor","omim_gene":["604161"],"alias_name":null,"gene_symbol":"KISS1R","hgnc_symbol":"KISS1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:917287-921015","ensembl_id":"ENSG00000116014"}},"GRch38":{"90":{"location":"19:917287-921015","ensembl_id":"ENSG00000116014"}}},"hgnc_date_symbol_changed":"2006-02-15"},"entity_type":"gene","entity_name":"KISS1R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17164310","31073722","14573733"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6535","gene_name":"lactate dehydrogenase A","omim_gene":["150000"],"alias_name":null,"gene_symbol":"LDHA","hgnc_symbol":"LDHA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:18415935-18429972","ensembl_id":"ENSG00000134333"}},"GRch38":{"90":{"location":"11:18394388-18408425","ensembl_id":"ENSG00000134333"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"LDHA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["2334430","1959923","8327147"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Glycogen storage disease XI, MIM# 612933"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["SV/CNV"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SLA/LP","SLA"],"biotype":"protein_coding","hgnc_id":"HGNC:30605","gene_name":"Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase","omim_gene":["613009"],"alias_name":["soluble liver antigen/liver pancreas antigen"],"gene_symbol":"SEPSECS","hgnc_symbol":"SEPSECS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:25121627-25162204","ensembl_id":"ENSG00000109618"}},"GRch38":{"90":{"location":"4:25120014-25160442","ensembl_id":"ENSG00000109618"}}},"hgnc_date_symbol_changed":"2007-05-01"},"entity_type":"gene","entity_name":"SEPSECS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20920667","25044680","31748115","29464431"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Pontocerebellar hypoplasia type 2D, 613811","cerebellar ataxia and cognitive impairment"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["p21-Arc","ARC21"],"biotype":"protein_coding","hgnc_id":"HGNC:706","gene_name":"actin related protein 2/3 complex subunit 3","omim_gene":["604225"],"alias_name":null,"gene_symbol":"ARPC3","hgnc_symbol":"ARPC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:110872630-110888227","ensembl_id":"ENSG00000111229"}},"GRch38":{"90":{"location":"12:110434825-110450422","ensembl_id":"ENSG00000111229"}}},"hgnc_date_symbol_changed":"1999-08-06"},"entity_type":"gene","entity_name":"ARPC3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["36928819","26166300","40011789"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Charcot-Marie-Tooth disease MONDO:0015626"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["VIAF1"],"biotype":"protein_coding","hgnc_id":"HGNC:28860","gene_name":"phosducin like 3","omim_gene":["611678"],"alias_name":null,"gene_symbol":"PDCL3","hgnc_symbol":"PDCL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:101179152-101193197","ensembl_id":"ENSG00000115539"}},"GRch38":{"90":{"location":"2:100562690-100576735","ensembl_id":"ENSG00000115539"}}},"hgnc_date_symbol_changed":"2004-02-16"},"entity_type":"gene","entity_name":"PDCL3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32621347"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Megacystis-microcolon"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1207"],"biotype":"protein_coding","hgnc_id":"HGNC:3656","gene_name":"myoferlin","omim_gene":["604603"],"alias_name":["fer-1-like family member 3"],"gene_symbol":"MYOF","hgnc_symbol":"MYOF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:95066186-95242074","ensembl_id":"ENSG00000138119"}},"GRch38":{"90":{"location":"10:93306429-93482317","ensembl_id":"ENSG00000138119"}}},"hgnc_date_symbol_changed":"2008-11-26"},"entity_type":"gene","entity_name":"MYOF","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32542751","40797221"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Hereditary angioedema-7 (HAE7), MIM#619366"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1955","gene_name":"cholinergic receptor nicotinic alpha 1 subunit","omim_gene":["100690"],"alias_name":["acetylcholine receptor, nicotinic, alpha 1 (muscle)"],"gene_symbol":"CHRNA1","hgnc_symbol":"CHRNA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:175612320-175629200","ensembl_id":"ENSG00000138435"}},"GRch38":{"90":{"location":"2:174747592-174787935","ensembl_id":"ENSG00000138435"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"CHRNA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18252226"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Multiple pterygium syndrome, lethal type, MIM# 253290","MONDO:0009668"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":139,"hash_id":null,"name":"Multiple pterygium syndrome_Fetal akinesia sequence","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains genes associated with severe perinatal disorders presenting with joint contractures, webbing and reduced fetal movements in particular those associated with:\r\n-fetal akinesia deformation sequence (FADS);\r\n-multiple pterygium syndromes;\r\n-lethal congenital contractures syndromes.\r\n\r\nPlease also consider a broader range of neurological conditions covered by the Congenital Myasthenia, Myopathy - paediatric onset, Arthrogryposis and Neuropathy panels, as well as the Intellectual disability panel.","status":"public","version":"1.11","version_created":"2026-02-25T14:53:33.284450+11:00","relevant_disorders":["Pterygium","HP:0001059; Akinesia","HP:0002304; Fetal akinesia sequence","HP:0001989"],"stats":{"number_of_genes":28,"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":["BAP","ULG5"],"biotype":"protein_coding","hgnc_id":"HGNC:24624","gene_name":"SIL1 nucleotide exchange factor","omim_gene":["608005"],"alias_name":null,"gene_symbol":"SIL1","hgnc_symbol":"SIL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:138282409-138629246","ensembl_id":"ENSG00000120725"}},"GRch38":{"90":{"location":"5:138946720-139293557","ensembl_id":"ENSG00000120725"}}},"hgnc_date_symbol_changed":"2005-09-01"},"entity_type":"gene","entity_name":"SIL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["16282977","24176978"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Marinesco-Sjogren syndrome\t(MIM#248800)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RPD3"],"biotype":"protein_coding","hgnc_id":"HGNC:13315","gene_name":"histone deacetylase 8","omim_gene":["300269"],"alias_name":null,"gene_symbol":"HDAC8","hgnc_symbol":"HDAC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:71549366-71792953","ensembl_id":"ENSG00000147099"}},"GRch38":{"90":{"location":"X:72329516-72573103","ensembl_id":"ENSG00000147099"}}},"hgnc_date_symbol_changed":"2002-09-06"},"entity_type":"gene","entity_name":"HDAC8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30614194","24403048"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cornelia de Lange syndrome 5, MIM#\t300882"],"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":163,"hash_id":null,"name":"Radial Ray Abnormalities","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Radial Dysplasia' panel and all differences have been resolved, with reciprocal feedback provided to Genomics England.","status":"public","version":"1.21","version_created":"2026-01-15T11:51:47.687282+11:00","relevant_disorders":["Abnormality of radial ray","HP:0410049"],"stats":{"number_of_genes":62,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["LZTR-1","BTBD29"],"biotype":"protein_coding","hgnc_id":"HGNC:6742","gene_name":"leucine zipper like transcription regulator 1","omim_gene":["600574"],"alias_name":null,"gene_symbol":"LZTR1","hgnc_symbol":"LZTR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:21333751-21353327","ensembl_id":"ENSG00000099949"}},"GRch38":{"90":{"location":"22:20979462-20999038","ensembl_id":"ENSG00000099949"}}},"hgnc_date_symbol_changed":"1999-10-19"},"entity_type":"gene","entity_name":"LZTR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25795793","29469822","30368668","30481304","24362817"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Noonan syndrome 10","Noonan syndrome 2"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":164,"hash_id":null,"name":"Rasopathy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the ClinGen Rasopathy Working Group gene-disease validity assessments (PMID: 30311384) and against the Genomics England PanelApp Rasopathies panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"0.113","version_created":"2026-01-26T17:08:48.260163+11:00","relevant_disorders":["Rasopathy","MONDO:0021060"],"stats":{"number_of_genes":32,"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":["DBX","HLP2","DDX14"],"biotype":"protein_coding","hgnc_id":"HGNC:2745","gene_name":"DEAD-box helicase 3, X-linked","omim_gene":["300160"],"alias_name":null,"gene_symbol":"DDX3X","hgnc_symbol":"DDX3X","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:41192651-41223725","ensembl_id":"ENSG00000215301"}},"GRch38":{"90":{"location":"X:41333348-41364472","ensembl_id":"ENSG00000215301"}}},"hgnc_date_symbol_changed":"2003-06-20"},"entity_type":"gene","entity_name":"DDX3X","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30266093","26235985","25533962","33528536","30936465","31274575","30817323"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958"],"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":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":["B17.2L","MMTN","mimitin"],"biotype":"protein_coding","hgnc_id":"HGNC:28086","gene_name":"NADH:ubiquinone oxidoreductase complex assembly factor 2","omim_gene":["609653"],"alias_name":["Myc-induced mitochondrial protein"],"gene_symbol":"NDUFAF2","hgnc_symbol":"NDUFAF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:60240956-60448853","ensembl_id":"ENSG00000164182"}},"GRch38":{"90":{"location":"5:60945129-61153037","ensembl_id":"ENSG00000164182"}}},"hgnc_date_symbol_changed":"2008-02-15"},"entity_type":"gene","entity_name":"NDUFAF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33528536","34364746","16200211","19384974","20571988"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3791","gene_name":"folate receptor 1","omim_gene":["136430"],"alias_name":["folate receptor alpha"],"gene_symbol":"FOLR1","hgnc_symbol":"FOLR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:71900602-71907345","ensembl_id":"ENSG00000110195"}},"GRch38":{"90":{"location":"11:72189558-72196323","ensembl_id":"ENSG00000110195"}}},"hgnc_date_symbol_changed":"1991-08-08"},"entity_type":"gene","entity_name":"FOLR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19732866","30420205","27743887"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068"],"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":["THIL"],"biotype":"protein_coding","hgnc_id":"HGNC:93","gene_name":"acetyl-CoA acetyltransferase 1","omim_gene":["607809"],"alias_name":["acetoacetyl Coenzyme A thiolase"],"gene_symbol":"ACAT1","hgnc_symbol":"ACAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:107992243-108018503","ensembl_id":"ENSG00000075239"}},"GRch38":{"90":{"location":"11:108121516-108147776","ensembl_id":"ENSG00000075239"}}},"hgnc_date_symbol_changed":"1991-08-12"},"entity_type":"gene","entity_name":"ACAT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31268215","25778941","1715688"],"evidence":["Expert Review Green","Expert Review Green","Literature","NHS GMS","Victorian Clinical Genetics Services"],"phenotypes":["Alpha-methylacetoacetic aciduria\tMIM#203750"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"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":["FLJ12439","RESA1"],"biotype":"protein_coding","hgnc_id":"HGNC:25716","gene_name":"cytochrome c oxidase assembly factor 7 (putative)","omim_gene":["615623"],"alias_name":["respiratory chain assembly 1"],"gene_symbol":"COA7","hgnc_symbol":"COA7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:53152508-53164038","ensembl_id":"ENSG00000162377"}},"GRch38":{"90":{"location":"1:52684451-52698366","ensembl_id":"ENSG00000162377"}}},"hgnc_date_symbol_changed":"2014-01-03"},"entity_type":"gene","entity_name":"COA7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30885959","29718187"],"evidence":["Expert Review Green","Expert list","Expert Review Green","Expert list"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DPD"],"biotype":"protein_coding","hgnc_id":"HGNC:3012","gene_name":"dihydropyrimidine dehydrogenase","omim_gene":["612779"],"alias_name":null,"gene_symbol":"DPYD","hgnc_symbol":"DPYD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:97543299-98386605","ensembl_id":"ENSG00000188641"}},"GRch38":{"90":{"location":"1:97077743-97921049","ensembl_id":"ENSG00000188641"}}},"hgnc_date_symbol_changed":"1994-07-07"},"entity_type":"gene","entity_name":"DPYD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GPM6C"],"biotype":"protein_coding","hgnc_id":"HGNC:9086","gene_name":"proteolipid protein 1","omim_gene":["300401"],"alias_name":["Pelizaeus-Merzbacher 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regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HDR"],"biotype":"protein_coding","hgnc_id":"HGNC:4172","gene_name":"GATA binding protein 3","omim_gene":["131320"],"alias_name":null,"gene_symbol":"GATA3","hgnc_symbol":"GATA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:8095567-8117161","ensembl_id":"ENSG00000107485"}},"GRch38":{"90":{"location":"10:8053604-8075198","ensembl_id":"ENSG00000107485"}}},"hgnc_date_symbol_changed":"1992-11-03"},"entity_type":"gene","entity_name":"GATA3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10935639","11389161","21120445","26316437","25771973","27387476","30396722"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear 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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":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","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:939","gene_name":"BCL2 associated athanogene 3","omim_gene":["603883"],"alias_name":null,"gene_symbol":"BAG3","hgnc_symbol":"BAG3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:121410882-121437331","ensembl_id":"ENSG00000151929"}},"GRch38":{"90":{"location":"10:119651370-119677819","ensembl_id":"ENSG00000151929"}}},"hgnc_date_symbol_changed":"1999-04-23"},"entity_type":"gene","entity_name":"BAG3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35802134"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cardiomyopathy, dilated, 1HH, MIM# 613881","Myopathy, myofibrillar, 6, MIM# 612954"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. 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These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.145","version_created":"2026-03-02T21:55:19.238904+11:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNMX","hnRNP-G","HNRNPG"],"biotype":"protein_coding","hgnc_id":"HGNC:9910","gene_name":"RNA binding motif protein, X-linked","omim_gene":["300199"],"alias_name":["heterogeneous nuclear ribonucleoprotein G"],"gene_symbol":"RBMX","hgnc_symbol":"RBMX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:135930163-135962923","ensembl_id":"ENSG00000147274"}},"GRch38":{"90":{"location":"X:136848004-136880764","ensembl_id":"ENSG00000147274"}}},"hgnc_date_symbol_changed":"2000-01-31"},"entity_type":"gene","entity_name":"RBMX","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["25256757","34260915","37277488"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238","Gustavson syndrome, MIM# 309555"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. 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It is maintained by Royal Melbourne Hospital.","status":"public","version":"0.28","version_created":"2025-11-21T09:34:57.163082+11:00","relevant_disorders":["Myoclonic seizure","HP:0032794"],"stats":{"number_of_genes":33,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HL","HTGL"],"biotype":"protein_coding","hgnc_id":"HGNC:6619","gene_name":"lipase C, hepatic type","omim_gene":["151670"],"alias_name":["Triacylglycerol lipase"],"gene_symbol":"LIPC","hgnc_symbol":"LIPC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:58702768-58861151","ensembl_id":"ENSG00000166035"}},"GRch38":{"90":{"location":"15:58410569-58569843","ensembl_id":"ENSG00000166035"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"LIPC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["1671786","12777476","1883393","23219720","26423094","22464213"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Hepatic lipase deficiency MIM#614025","Inherited mixed hyperlipidaemias","hyperalphalipoproteinemia"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":332,"hash_id":null,"name":"Dyslipidaemia","disease_group":"Endocrine disorders; Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes that cause dyslipidaemia, abnormal amount of lipids (e.g. triglycerides, cholesterol and/or fat phospholipids). 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It was developed for use by the Royal Melbourne Hospital endocrine genetics clinic.","status":"public","version":"0.51","version_created":"2026-04-03T15:42:30.681985+11:00","relevant_disorders":["Abnormal circulating lipid concentration","HP:0003119"],"stats":{"number_of_genes":29,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11474","gene_name":"SURF1, cytochrome c oxidase assembly factor","omim_gene":["185620"],"alias_name":["surfeit locus protein 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VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MTPB"],"biotype":"protein_coding","hgnc_id":"HGNC:4803","gene_name":"hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta","omim_gene":["143450"],"alias_name":["mitochondrial trifunctional protein, beta subunit"],"gene_symbol":"HADHB","hgnc_symbol":"HADHB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:26466038-26513336","ensembl_id":"ENSG00000138029"}},"GRch38":{"90":{"location":"2:26243170-26290468","ensembl_id":"ENSG00000138029"}}},"hgnc_date_symbol_changed":"1994-12-16"},"entity_type":"gene","entity_name":"HADHB","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["37388542","36063482","24664533"],"evidence":["Expert Review Amber","Royal Melbourne Hospital"],"phenotypes":["Mitochondrial Trifunctional Protein Deficiency 2 with Myopathy and Neuropathy MIM#320300"],"mode_of_inheritance":"BIALLELIC, autosomal or 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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":["nicein-125kDa","kalinin-140kDa","BM600-125kDa"],"biotype":"protein_coding","hgnc_id":"HGNC:6490","gene_name":"laminin subunit beta 3","omim_gene":["150310"],"alias_name":null,"gene_symbol":"LAMB3","hgnc_symbol":"LAMB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:209788215-209825811","ensembl_id":"ENSG00000196878"}},"GRch38":{"90":{"location":"1:209614870-209652466","ensembl_id":"ENSG00000196878"}}},"hgnc_date_symbol_changed":"1993-12-14"},"entity_type":"gene","entity_name":"LAMB3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. 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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":["CALC","EFHA3","FLJ12684"],"biotype":"protein_coding","hgnc_id":"HGNC:1530","gene_name":"mitochondrial calcium uptake 1","omim_gene":["605084"],"alias_name":null,"gene_symbol":"MICU1","hgnc_symbol":"MICU1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:74127098-74385899","ensembl_id":"ENSG00000107745"}},"GRch38":{"90":{"location":"10:72367327-72626191","ensembl_id":"ENSG00000107745"}}},"hgnc_date_symbol_changed":"2011-06-23"},"entity_type":"gene","entity_name":"MICU1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Myopathy with extrapyramidal signs, 615673 (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":["NPD002","MGC14452"],"biotype":"protein_coding","hgnc_id":"HGNC:21497","gene_name":"acyl-CoA dehydrogenase family member 9","omim_gene":["611103"],"alias_name":null,"gene_symbol":"ACAD9","hgnc_symbol":"ACAD9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:128598439-128634910","ensembl_id":"ENSG00000177646"}},"GRch38":{"90":{"location":"3:128879596-128916067","ensembl_id":"ENSG00000177646"}}},"hgnc_date_symbol_changed":"2003-06-18"},"entity_type":"gene","entity_name":"ACAD9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (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":["NIR1","RDGBA3","ACKR6"],"biotype":"protein_coding","hgnc_id":"HGNC:21043","gene_name":"PITPNM family member 3","omim_gene":["608921"],"alias_name":["atypical chemokine receptor 6"],"gene_symbol":"PITPNM3","hgnc_symbol":"PITPNM3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:6354584-6459814","ensembl_id":"ENSG00000091622"}},"GRch38":{"90":{"location":"17:6451264-6556494","ensembl_id":"ENSG00000091622"}}},"hgnc_date_symbol_changed":"2013-07-18"},"entity_type":"gene","entity_name":"PITPNM3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["30679166","17377520","22405330"],"evidence":["Expert Review Red","Royal Melbourne Hospital","Royal Melbourne Hospital"],"phenotypes":["Cone-rod dystrophy 5, 600977"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3147,"hash_id":null,"name":"Cone-rod Dystrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause non-syndromic cone and cone-rod dystrophies, characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. 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It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0733"],"biotype":"protein_coding","hgnc_id":"HGNC:17075","gene_name":"TGF-beta activated kinase 1/MAP3K7 binding protein 2","omim_gene":["605101"],"alias_name":null,"gene_symbol":"TAB2","hgnc_symbol":"TAB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:149539777-149732749","ensembl_id":"ENSG00000055208"}},"GRch38":{"90":{"location":"6:149218641-149411613","ensembl_id":"ENSG00000055208"}}},"hgnc_date_symbol_changed":"2010-02-05"},"entity_type":"gene","entity_name":"TAB2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Congenital heart disease, nonsyndromic"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6430","gene_name":"keratin 18","omim_gene":["148070"],"alias_name":null,"gene_symbol":"KRT18","hgnc_symbol":"KRT18","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:53342655-53346685","ensembl_id":"ENSG00000111057"}},"GRch38":{"90":{"location":"12:52948871-52952901","ensembl_id":"ENSG00000111057"}}},"hgnc_date_symbol_changed":"1988-08-12"},"entity_type":"gene","entity_name":"KRT18","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Cirrhosis, cryptogenic"],"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":["AML3","PEBP2A1","PEBP2aA1"],"biotype":"protein_coding","hgnc_id":"HGNC:10472","gene_name":"runt related transcription factor 2","omim_gene":["600211"],"alias_name":null,"gene_symbol":"RUNX2","hgnc_symbol":"RUNX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:45295894-45632086","ensembl_id":"ENSG00000124813"}},"GRch38":{"90":{"location":"6:45328157-45664349","ensembl_id":"ENSG00000124813"}}},"hgnc_date_symbol_changed":"1994-11-02"},"entity_type":"gene","entity_name":"RUNX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Cleidocranial dysostosis"],"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":["MU-ARP2","MU-4","SPG50"],"biotype":"protein_coding","hgnc_id":"HGNC:574","gene_name":"adaptor related protein complex 4 mu 1 subunit","omim_gene":["602296"],"alias_name":["mu-adaptin-related protein-2","mu subunit of AP-4","AP-4 adapter complex mu subunit","adaptor-related protein complex AP-4 mu4 subunit"],"gene_symbol":"AP4M1","hgnc_symbol":"AP4M1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:99699172-99707968","ensembl_id":"ENSG00000221838"}},"GRch38":{"90":{"location":"7:100101549-100110345","ensembl_id":"ENSG00000221838"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP4M1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19559397","21937992","21937992","32979048","31915823","29096665","28464862","25496299"],"evidence":["Expert Review Green","BabySeq Category C gene"],"phenotypes":["Spastic paraplegia 50, autosomal recessive, MIM#\t612936"],"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":["NHERF","EBP50","NHERF1"],"biotype":"protein_coding","hgnc_id":"HGNC:11075","gene_name":"SLC9A3 regulator 1","omim_gene":["604990"],"alias_name":null,"gene_symbol":"SLC9A3R1","hgnc_symbol":"SLC9A3R1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:72744791-72765492","ensembl_id":"ENSG00000109062"}},"GRch38":{"90":{"location":"17:74748652-74769353","ensembl_id":"ENSG00000109062"}}},"hgnc_date_symbol_changed":"1999-02-26"},"entity_type":"gene","entity_name":"SLC9A3R1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Nephrolithiasis/osteoporosis, hypophosphatemic, 2"],"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":["CGI-53","NGD5","dJ1028D15.1","NGD2"],"biotype":"protein_coding","hgnc_id":"HGNC:15901","gene_name":"intraflagellar transport 52","omim_gene":["617094"],"alias_name":null,"gene_symbol":"IFT52","hgnc_symbol":"IFT52","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:42219571-42275936","ensembl_id":"ENSG00000101052"}},"GRch38":{"90":{"location":"20:43590931-43647296","ensembl_id":"ENSG00000101052"}}},"hgnc_date_symbol_changed":"2005-11-02"},"entity_type":"gene","entity_name":"IFT52","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber"],"phenotypes":["SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY","SRTD16"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:291","gene_name":"adenylosuccinate lyase","omim_gene":["608222"],"alias_name":null,"gene_symbol":"ADSL","hgnc_symbol":"ADSL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:40742507-40786467","ensembl_id":"ENSG00000239900"}},"GRch38":{"90":{"location":"22:40346500-40390463","ensembl_id":"ENSG00000239900"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ADSL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["1302001","22180458","18524658","27626380"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Adenylosuccinase deficiency MIM#103050","disorder of purine metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CSA"],"biotype":"protein_coding","hgnc_id":"HGNC:3439","gene_name":"ERCC excision repair 8, CSA ubiquitin ligase complex subunit","omim_gene":["609412"],"alias_name":null,"gene_symbol":"ERCC8","hgnc_symbol":"ERCC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:60169658-60240900","ensembl_id":"ENSG00000049167"}},"GRch38":{"90":{"location":"5:60873831-60945073","ensembl_id":"ENSG00000049167"}}},"hgnc_date_symbol_changed":"1995-02-07"},"entity_type":"gene","entity_name":"ERCC8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7664335","19894250"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Cockayne syndrome, type A, MIM# 216400","MONDO:0019569"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","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":null},{"gene_data":{"alias":["EAR-3","COUP-TFI","TCFCOUP1","SVP44"],"biotype":"protein_coding","hgnc_id":"HGNC:7975","gene_name":"nuclear receptor subfamily 2 group F member 1","omim_gene":["132890"],"alias_name":null,"gene_symbol":"NR2F1","hgnc_symbol":"NR2F1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:92919043-92930321","ensembl_id":"ENSG00000175745"}},"GRch38":{"90":{"location":"5:93583337-93594615","ensembl_id":"ENSG00000175745"}}},"hgnc_date_symbol_changed":"1995-03-21"},"entity_type":"gene","entity_name":"NR2F1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["32275123"],"evidence":["Expert Review Red","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["B3GTL","B3Glc-T"],"biotype":"protein_coding","hgnc_id":"HGNC:20207","gene_name":"beta 3-glucosyltransferase","omim_gene":["610308"],"alias_name":["beta-1,3-glucosyltransferase"],"gene_symbol":"B3GLCT","hgnc_symbol":"B3GLCT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:31774073-31906413","ensembl_id":"ENSG00000187676"}},"GRch38":{"90":{"location":"13:31199936-31332276","ensembl_id":"ENSG00000187676"}}},"hgnc_date_symbol_changed":"2015-06-04"},"entity_type":"gene","entity_name":"B3GLCT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29096039","18199743","16909395"],"evidence":["Expert Review Green","Genomics England PanelApp","Literature","Expert list"],"phenotypes":["Peters-plus syndrome, MIM#261540"],"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":["ETB"],"biotype":"protein_coding","hgnc_id":"HGNC:3180","gene_name":"endothelin receptor type B","omim_gene":["131244"],"alias_name":null,"gene_symbol":"EDNRB","hgnc_symbol":"EDNRB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:78469616-78493903","ensembl_id":"ENSG00000136160"}},"GRch38":{"90":{"location":"13:77895481-77919768","ensembl_id":"ENSG00000136160"}}},"hgnc_date_symbol_changed":"1992-02-13"},"entity_type":"gene","entity_name":"EDNRB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Waardenburg syndrome, type 4A, MIM#277580","ABCD syndrome, MIM#\t600501"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ZNRP","BOV-1A","BOV-1B","BOV-1C","RBM8B","Y14"],"biotype":null,"hgnc_id":"HGNC:9905","gene_name":"RNA binding motif protein 8A","omim_gene":["605313"],"alias_name":null,"gene_symbol":"RBM8A","hgnc_symbol":"RBM8A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:145507598-145513536","ensembl_id":"ENSG00000131795"}},"GRch38":{"90":{"location":"1:145917714-145927678","ensembl_id":"ENSG00000265241"}}},"hgnc_date_symbol_changed":"1999-05-05"},"entity_type":"gene","entity_name":"RBM8A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Thrombocytopaenia-absent radius syndrome, MIM# 274000"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["SV/CNV"],"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":["JJAZ1","KIAA0160","CHET9"],"biotype":"protein_coding","hgnc_id":"HGNC:17101","gene_name":"SUZ12 polycomb repressive complex 2 subunit","omim_gene":["606245"],"alias_name":null,"gene_symbol":"SUZ12","hgnc_symbol":"SUZ12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:30264037-30328064","ensembl_id":"ENSG00000178691"}},"GRch38":{"90":{"location":"17:31937018-32001045","ensembl_id":"ENSG00000178691"}}},"hgnc_date_symbol_changed":"2004-12-14"},"entity_type":"gene","entity_name":"SUZ12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30019515","28229514","31736240"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Imagawa-Matsumoto syndrome #618786"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC2655","fSAP35"],"biotype":"protein_coding","hgnc_id":"HGNC:28369","gene_name":"THO complex 6","omim_gene":["615403"],"alias_name":["functional spliceosome-associated protein 35"],"gene_symbol":"THOC6","hgnc_symbol":"THOC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:3074028-3077756","ensembl_id":"ENSG00000131652"}},"GRch38":{"90":{"location":"16:3024027-3027755","ensembl_id":"ENSG00000131652"}}},"hgnc_date_symbol_changed":"2006-03-02"},"entity_type":"gene","entity_name":"THOC6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23621916","26739162","27102954","30238602","30476144"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Beaulieu-Boycott-Innes syndrome, MIM# 613680"],"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":["FLJ23263"],"biotype":"protein_coding","hgnc_id":"HGNC:26262","gene_name":"TELO2 interacting protein 2","omim_gene":["614426"],"alias_name":null,"gene_symbol":"TTI2","hgnc_symbol":"TTI2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:33330904-33371119","ensembl_id":"ENSG00000129696"}},"GRch38":{"90":{"location":"8:33473386-33513601","ensembl_id":"ENSG00000129696"}}},"hgnc_date_symbol_changed":"2011-09-22"},"entity_type":"gene","entity_name":"TTI2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32061250","23956177","31737043"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Mental retardation, autosomal recessive 39 (MIM#615541)","Microcephaly"],"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":["bA371L19.1","hRFT2","RFVT3"],"biotype":"protein_coding","hgnc_id":"HGNC:16187","gene_name":"solute carrier family 52 member 3","omim_gene":["613350"],"alias_name":["hypothetical protein LOC113278"],"gene_symbol":"SLC52A3","hgnc_symbol":"SLC52A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:740724-749131","ensembl_id":"ENSG00000101276"}},"GRch38":{"90":{"location":"20:760080-776015","ensembl_id":"ENSG00000101276"}}},"hgnc_date_symbol_changed":"2012-02-29"},"entity_type":"gene","entity_name":"SLC52A3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29053833","29193829"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Brown-Vialetto-Van Laere syndrome 1 (MIM#211530)"],"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":["PM/Scl-75","Rrp45p","RRP45","p5","p6"],"biotype":"protein_coding","hgnc_id":"HGNC:9137","gene_name":"exosome component 9","omim_gene":["606180"],"alias_name":["polymyositis/scleroderma autoantigen 1 (75kD)"],"gene_symbol":"EXOSC9","hgnc_symbol":"EXOSC9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:122722472-122738176","ensembl_id":"ENSG00000123737"}},"GRch38":{"90":{"location":"4:121801317-121817021","ensembl_id":"ENSG00000123737"}}},"hgnc_date_symbol_changed":"2004-06-18"},"entity_type":"gene","entity_name":"EXOSC9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33040083","30690203","29727687"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Pontocerebellar hypoplasia, type 1D - MIM#618065"],"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":["NESP55","NESP","GNASXL","GPSA","SCG6","SgVI"],"biotype":"protein_coding","hgnc_id":"HGNC:4392","gene_name":"GNAS complex locus","omim_gene":["139320"],"alias_name":["secretogranin VI","G protein subunit alpha S"],"gene_symbol":"GNAS","hgnc_symbol":"GNAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:57414773-57486247","ensembl_id":"ENSG00000087460"}},"GRch38":{"90":{"location":"20:58839718-58911192","ensembl_id":"ENSG00000087460"}}},"hgnc_date_symbol_changed":"2001-12-20"},"entity_type":"gene","entity_name":"GNAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28663568","28453643","27991864"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Pseudohypoparathyroidism Ia, MIM# 103580","Pseudohypoparathyroidism Ic, MIM# 612462","Pseudopseudohypoparathyroidism, MIM# 612463"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","tags":[],"panel":{"id":3764,"hash_id":null,"name":"Severe early-onset obesity","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with syndromic and non-syndromic causes of severe, early-onset obesity (weight >3 standard deviations above the mean, with onset before the age of 5 years).\r\n\r\nIf other growth parameters are affected, please consider the Overgrowth and the Macrocephaly_Megalencephaly panels.","status":"public","version":"1.30","version_created":"2026-03-18T15:16:42.995334+11:00","relevant_disorders":["Obesity","HP:0001513"],"stats":{"number_of_genes":59,"number_of_strs":0,"number_of_regions":3},"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":["KIAA2004","FLJ20073"],"biotype":"protein_coding","hgnc_id":"HGNC:1348","gene_name":"sterile alpha motif domain containing 9","omim_gene":["610456"],"alias_name":null,"gene_symbol":"SAMD9","hgnc_symbol":"SAMD9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92728829-92747336","ensembl_id":"ENSG00000205413"}},"GRch38":{"90":{"location":"7:93099513-93118023","ensembl_id":"ENSG00000205413"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"SAMD9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Expert list"],"phenotypes":["MIRAGE syndrome, MIM#617053"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3829,"hash_id":null,"name":"IBMDx study","disease_group":"","disease_sub_group":"","description":"The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2,  BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.","status":"public","version":"0.42","version_created":"2026-03-19T18:45:41.236506+11:00","relevant_disorders":[],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Research","slug":"research","description":"Research panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PDHE1B"],"biotype":"protein_coding","hgnc_id":"HGNC:8808","gene_name":"pyruvate dehydrogenase E1 beta subunit","omim_gene":["179060"],"alias_name":null,"gene_symbol":"PDHB","hgnc_symbol":"PDHB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:58413357-58419584","ensembl_id":"ENSG00000168291"}},"GRch38":{"90":{"location":"3:58427630-58433857","ensembl_id":"ENSG00000168291"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"PDHB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15138885","18164639","26865159","19924563","34138529"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Pyruvate dehydrogenase E1-beta deficiency, MIM#614111"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8840","gene_name":"peptidase D","omim_gene":["613230"],"alias_name":["prolidase"],"gene_symbol":"PEPD","hgnc_symbol":"PEPD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:33877856-34012700","ensembl_id":"ENSG00000124299"}},"GRch38":{"90":{"location":"19:33386950-33521794","ensembl_id":"ENSG00000124299"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PEPD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32455636","19308961","3827281","36757671","16470701"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Prolidase deficiency, MIM# 170100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CITRIN","ARALAR2"],"biotype":"protein_coding","hgnc_id":"HGNC:10983","gene_name":"solute carrier family 25 member 13","omim_gene":["603859"],"alias_name":["mitochondrial aspartate glutamate carrier 2"],"gene_symbol":"SLC25A13","hgnc_symbol":"SLC25A13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:95749532-95951459","ensembl_id":"ENSG00000004864"}},"GRch38":{"90":{"location":"7:96120220-96322147","ensembl_id":"ENSG00000004864"}}},"hgnc_date_symbol_changed":"1999-07-13"},"entity_type":"gene","entity_name":"SLC25A13","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301360","21424115","11343052","11281457"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Citrullinemia, type II, neonatal-onset, 605814 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MWFE","CI-MWFE"],"biotype":"protein_coding","hgnc_id":"HGNC:7683","gene_name":"NADH:ubiquinone oxidoreductase subunit A1","omim_gene":["300078"],"alias_name":["NADH:ubiquinone oxidoreductase (complex 1)","type I dehydrogenase","NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)","complex I MWFE subunit"],"gene_symbol":"NDUFA1","hgnc_symbol":"NDUFA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:119005450-119010625","ensembl_id":"ENSG00000125356"}},"GRch38":{"90":{"location":"X:119871487-119876662","ensembl_id":"ENSG00000125356"}}},"hgnc_date_symbol_changed":"1996-08-16"},"entity_type":"gene","entity_name":"NDUFA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 12 MIM#301020"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"IG_C_gene","hgnc_id":"HGNC:5541","gene_name":"immunoglobulin heavy constant mu","omim_gene":["147020"],"alias_name":null,"gene_symbol":"IGHM","hgnc_symbol":"IGHM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:106320349-106322323","ensembl_id":"ENSG00000211899"}},"GRch38":{"90":{"location":"14:105851708-105856218","ensembl_id":"ENSG00000211899"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"IGHM","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["12370281","8890099"],"evidence":["Expert Review Amber","Mackenzie's Mission"],"phenotypes":["Agammaglobulinaemia 1, 601495 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC33662"],"biotype":"protein_coding","hgnc_id":"HGNC:28510","gene_name":"GLIS family zinc finger 3","omim_gene":["610192"],"alias_name":null,"gene_symbol":"GLIS3","hgnc_symbol":"GLIS3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:3824127-4348392","ensembl_id":"ENSG00000107249"}},"GRch38":{"90":{"location":"9:3824127-4348392","ensembl_id":"ENSG00000107249"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"GLIS3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21139041","35410112","35394098","34093443"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Diabetes mellitus, neonatal, with congenital hypothyroidism MIM#610199"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FBL4","FBL5"],"biotype":"protein_coding","hgnc_id":"HGNC:13601","gene_name":"F-box and leucine rich repeat protein 4","omim_gene":["605654"],"alias_name":null,"gene_symbol":"FBXL4","hgnc_symbol":"FBXL4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:99316420-99395849","ensembl_id":"ENSG00000112234"}},"GRch38":{"90":{"location":"6:98868538-98948006","ensembl_id":"ENSG00000112234"}}},"hgnc_date_symbol_changed":"2000-09-27"},"entity_type":"gene","entity_name":"FBXL4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28940506","23993194"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DLDH"],"biotype":"protein_coding","hgnc_id":"HGNC:2898","gene_name":"dihydrolipoamide dehydrogenase","omim_gene":["238331"],"alias_name":["E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"],"gene_symbol":"DLD","hgnc_symbol":"DLD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:107531415-107572175","ensembl_id":"ENSG00000091140"}},"GRch38":{"90":{"location":"7:107890970-107931730","ensembl_id":"ENSG00000091140"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"DLD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["3769994","8506365","9934985","17404228","21558426","21930696"],"evidence":["Expert Review Green"],"phenotypes":["pyruvate dehydrogenase E3 deficiency MONDO:0009529"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"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":null},{"gene_data":{"alias":["FLJ12847","BRIT1"],"biotype":"protein_coding","hgnc_id":"HGNC:6954","gene_name":"microcephalin 1","omim_gene":["607117"],"alias_name":["BRCT-repeat inhibitor of TERT expression 1"],"gene_symbol":"MCPH1","hgnc_symbol":"MCPH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:6264113-6501144","ensembl_id":"ENSG00000147316"}},"GRch38":{"90":{"location":"8:6406592-6648504","ensembl_id":"ENSG00000147316"}}},"hgnc_date_symbol_changed":"1998-02-11"},"entity_type":"gene","entity_name":"MCPH1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Microcephaly 1, primary, autosomal recessive, MIM# 251200"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CAMI","PHKD","DD132"],"biotype":"protein_coding","hgnc_id":"HGNC:1442","gene_name":"calmodulin 1","omim_gene":["114180"],"alias_name":["prepro-calmodulin 1","phosphorylase kinase subunit delta"],"gene_symbol":"CALM1","hgnc_symbol":"CALM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:90862846-90874605","ensembl_id":"ENSG00000198668"}},"GRch38":{"90":{"location":"14:90396502-90408261","ensembl_id":"ENSG00000198668"}}},"hgnc_date_symbol_changed":"1991-06-05"},"entity_type":"gene","entity_name":"CALM1","confidence_level":"2","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Amber","ClinGen"],"phenotypes":["Ventricular tachycardia, catecholaminergic polymorphic, 4, MIM# 614916"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["cardiac","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":[]},{"gene_data":{"alias":["D6S586E"],"biotype":"protein_coding","hgnc_id":"HGNC:1802","gene_name":"corneodesmosin","omim_gene":["602593"],"alias_name":null,"gene_symbol":"CDSN","hgnc_symbol":"CDSN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31082867-31088223","ensembl_id":"ENSG00000204539"}},"GRch38":{"90":{"location":"6:31115090-31120446","ensembl_id":"ENSG00000204539"}}},"hgnc_date_symbol_changed":"1998-05-14"},"entity_type":"gene","entity_name":"CDSN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Peeling skin syndrome 1, MIM#270300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LTBP-4","LTBP-4L","FLJ46318","FLJ90018"],"biotype":"protein_coding","hgnc_id":"HGNC:6717","gene_name":"latent transforming growth factor beta binding protein 4","omim_gene":["604710"],"alias_name":null,"gene_symbol":"LTBP4","hgnc_symbol":"LTBP4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:41098789-41135725","ensembl_id":"ENSG00000090006"}},"GRch38":{"90":{"location":"19:40592883-40629818","ensembl_id":"ENSG00000090006"}}},"hgnc_date_symbol_changed":"1998-11-18"},"entity_type":"gene","entity_name":"LTBP4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["30681372","35921570"],"evidence":["Expert Review Red","Other"],"phenotypes":["Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies MONDO:0013170"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3960,"hash_id":null,"name":"Pneumothorax","disease_group":"Respiratory disorders","disease_sub_group":"Structural lung disorders","description":"This panel contains genes that are reported causes of familial/sporadic spontaneous pneumothorax, or conditions where spontaneous pneumothorax is a differential diagnosis.\r\n\r\nThis panel is based on the Genomics England Pneumothorax - familial v2.38 gene panel.","status":"public","version":"1.1","version_created":"2025-04-24T14:31:41.408160+10:00","relevant_disorders":["Pneumothorax","HP:0002107"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ZFAND7","SMUBP2","CATF1","SMARD1","HCSA","HMN6","CMT2S"],"biotype":"protein_coding","hgnc_id":"HGNC:5542","gene_name":"immunoglobulin mu binding protein 2","omim_gene":["600502"],"alias_name":["cardiac transcription factor 1","zinc finger, AN1-type domain 7"],"gene_symbol":"IGHMBP2","hgnc_symbol":"IGHMBP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:68671310-68708070","ensembl_id":"ENSG00000132740"}},"GRch38":{"90":{"location":"11:68903842-68940602","ensembl_id":"ENSG00000132740"}}},"hgnc_date_symbol_changed":"1994-12-15"},"entity_type":"gene","entity_name":"IGHMBP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34785121","25439726"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Neuronopathy, distal hereditary motor, autosomal recessive 1 MIM#604320","Charcot-Marie-Tooth disease, axonal, type 2S MIM#616155"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; 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Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","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}]}