{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=306","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=304","results":[{"gene_data":{"alias":["UBOX1","CHIP","SDCCAG7","HSPABP2","NY-CO-7"],"biotype":"protein_coding","hgnc_id":"HGNC:11427","gene_name":"STIP1 homology and U-box containing protein 1","omim_gene":["607207"],"alias_name":null,"gene_symbol":"STUB1","hgnc_symbol":"STUB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:730224-732870","ensembl_id":"ENSG00000103266"}},"GRch38":{"90":{"location":"16:680224-682870","ensembl_id":"ENSG00000103266"}}},"hgnc_date_symbol_changed":"1999-11-25"},"entity_type":"gene","entity_name":"STUB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32713943"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Spinocerebellar ataxia 48 MIM#618093","cognitive impairment","Spinocerebellar ataxia, autosomal recessive 16\tMIM#615768"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":24,"hash_id":null,"name":"Early-onset Dementia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause frontotemporal dementia (FTD), Alzheimer's disease, other forms of dementia, and adult-onset cognitive decline. It is currently maintained by VCGS and RMH. The base panel (17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"1.58","version_created":"2026-03-31T16:43:37.497568+11:00","relevant_disorders":["Cognitive impairment","HP:0100543"],"stats":{"number_of_genes":96,"number_of_strs":6,"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"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["IPOA"],"biotype":"protein_coding","hgnc_id":"HGNC:11179","gene_name":"superoxide dismutase 1","omim_gene":["147450"],"alias_name":null,"gene_symbol":"SOD1","hgnc_symbol":"SOD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:33031935-33041244","ensembl_id":"ENSG00000142168"}},"GRch38":{"90":{"location":"21:31659622-31668931","ensembl_id":"ENSG00000142168"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"SOD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8625408","21545237","16503123"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Amyotrophic lateral sclerosis 1 (105400 AD, AR)","Spastic tetraplegia and axial hypotonia, progressive (618598 AR)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":25,"hash_id":null,"name":"Motor Neurone Disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"1.48","version_created":"2026-03-31T16:37:58.241144+11:00","relevant_disorders":[],"stats":{"number_of_genes":79,"number_of_strs":4,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:620","gene_name":"amyloid beta precursor protein","omim_gene":["104760"],"alias_name":["peptidase nexin-II"],"gene_symbol":"APP","hgnc_symbol":"APP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:27252861-27543446","ensembl_id":"ENSG00000142192"}},"GRch38":{"90":{"location":"21:25880550-26171128","ensembl_id":"ENSG00000142192"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"APP","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Alzheimer disease 1, familial, MIM# 104300"],"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":null},{"gene_data":{"alias":["FLJ32173","MGC16028"],"biotype":"protein_coding","hgnc_id":"HGNC:29669","gene_name":"intraflagellar transport 43","omim_gene":["614068"],"alias_name":null,"gene_symbol":"IFT43","hgnc_symbol":"IFT43","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:76368479-76550928","ensembl_id":"ENSG00000119650"}},"GRch38":{"90":{"location":"14:75902136-76084585","ensembl_id":"ENSG00000119650"}}},"hgnc_date_symbol_changed":"2011-06-09"},"entity_type":"gene","entity_name":"IFT43","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services","Expert Review Green","Melbourne Genomics Health Alliance Perinatal Autopsy Flagship"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":28,"hash_id":null,"name":"Skeletal Dysplasia_Fetal","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.","status":"public","version":"0.246","version_created":"2026-03-02T10:22:48.751874+11:00","relevant_disorders":[],"stats":{"number_of_genes":157,"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."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MDA-5","Hlcd","MDA5","IDDM19"],"biotype":"protein_coding","hgnc_id":"HGNC:18873","gene_name":"interferon induced with helicase C domain 1","omim_gene":["606951"],"alias_name":["helicard","melanoma differentiation-associated gene 5"],"gene_symbol":"IFIH1","hgnc_symbol":"IFIH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:163123589-163175213","ensembl_id":"ENSG00000115267"}},"GRch38":{"90":{"location":"2:162267079-162318703","ensembl_id":"ENSG00000115267"}}},"hgnc_date_symbol_changed":"2004-06-25"},"entity_type":"gene","entity_name":"IFIH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24686847"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Aicardi-Goutieres syndrome 7, MIM#615846"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":58,"hash_id":null,"name":"Brain Calcification","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Primary brain calcification disorders are characterised by abnormal deposits of calcium in blood vessels within the brain, particularly the basal ganglia. They typically present with movement disorders and psychiatric or behavioural problems. This panel also contains other multi-system conditions where brain calcification can occur as part of the phenotype.\r\n\r\nThis panel was developed and is maintained by VCGS.\r\n\r\nThe panel has been compared against the Genomics England PanelApp Intracerebral Calcifications panel V1.27 with all discrepancies resolved and reciprocal feedback provided to Genomics England.\r\n\r\nUpdated December 2025 following literature review.","status":"public","version":"2.6","version_created":"2026-01-08T18:01:53.861975+11:00","relevant_disorders":["Cerebral calcification","HP:0002514"],"stats":{"number_of_genes":96,"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":["p67phox","NOXA2"],"biotype":"protein_coding","hgnc_id":"HGNC:7661","gene_name":"neutrophil cytosolic factor 2","omim_gene":["608515"],"alias_name":["NADPH oxidase activator 2","chronic granulomatous disease, autosomal 2"],"gene_symbol":"NCF2","hgnc_symbol":"NCF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:183524698-183560011","ensembl_id":"ENSG00000116701"}},"GRch38":{"90":{"location":"1:183555563-183590876","ensembl_id":"ENSG00000116701"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"NCF2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":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":null},{"gene_data":{"alias":["ATF1","ATF2","HFB1-GDNF"],"biotype":"protein_coding","hgnc_id":"HGNC:4232","gene_name":"glial cell derived neurotrophic factor","omim_gene":["600837"],"alias_name":["astrocyte-derived trophic factor","glial cell line derived neurotrophic factor","glial derived neurotrophic factor"],"gene_symbol":"GDNF","hgnc_symbol":"GDNF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:37812779-37839788","ensembl_id":"ENSG00000168621"}},"GRch38":{"90":{"location":"5:37812677-37839686","ensembl_id":"ENSG00000168621"}}},"hgnc_date_symbol_changed":"1995-05-04"},"entity_type":"gene","entity_name":"GDNF","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Central hypoventilation syndrome, MIM# 209880"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":71,"hash_id":null,"name":"Central Hypoventilation","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS.\r\n\r\nMore than 90% of individuals with congenital central hypoventilation syndrome have variants in the PHOX2B gene, most commonly an expansion of the polyalanine tract, which may not be tractable by all NGS assays.","status":"public","version":"1.7","version_created":"2026-01-04T18:41:11.422790+11:00","relevant_disorders":["Central hypoventilation HP:0007110"],"stats":{"number_of_genes":12,"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":["AYP1","AGS3"],"biotype":"protein_coding","hgnc_id":"HGNC:24116","gene_name":"ribonuclease H2 subunit C","omim_gene":["610330"],"alias_name":["Aicardi-Goutieres syndrome 3"],"gene_symbol":"RNASEH2C","hgnc_symbol":"RNASEH2C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65482367-65488418","ensembl_id":"ENSG00000172922"}},"GRch38":{"90":{"location":"11:65714896-65720947","ensembl_id":"ENSG00000172922"}}},"hgnc_date_symbol_changed":"2006-08-17"},"entity_type":"gene","entity_name":"RNASEH2C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 17846997"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Aicardi-Goutieres syndrome 3","OMIM #610329"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["hdhc11","DHC2","DHC1b","DYH1B"],"biotype":"protein_coding","hgnc_id":"HGNC:2962","gene_name":"dynein cytoplasmic 2 heavy chain 1","omim_gene":["603297"],"alias_name":null,"gene_symbol":"DYNC2H1","hgnc_symbol":"DYNC2H1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:102980160-103350591","ensembl_id":"ENSG00000187240"}},"GRch38":{"90":{"location":"11:103109431-103479863","ensembl_id":"ENSG00000187240"}}},"hgnc_date_symbol_changed":"2005-11-24"},"entity_type":"gene","entity_name":"DYNC2H1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19442771","19361615","22499340","23456818","27925158"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091","MONDO:0013127"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":84,"hash_id":null,"name":"Ciliopathies","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["STAR"],"biotype":"protein_coding","hgnc_id":"HGNC:4688","gene_name":"guanylate cyclase 2C","omim_gene":["601330"],"alias_name":["STA receptor","heat stable enterotoxin receptor"],"gene_symbol":"GUCY2C","hgnc_symbol":"GUCY2C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:14765576-14849519","ensembl_id":"ENSG00000070019"}},"GRch38":{"90":{"location":"12:14612632-14696585","ensembl_id":"ENSG00000070019"}}},"hgnc_date_symbol_changed":"1994-04-15"},"entity_type":"gene","entity_name":"GUCY2C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["22521417","22436048","25994218","30353760","28957388"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Diarrhoea 6, MIM# 614616"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":89,"hash_id":null,"name":"Congenital Diarrhoea","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nCongenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. Severe chronic diarrhoea may be the main clinical manifestation or it may be a component of a more complex multi-organ or systemic disease.\r\n\r\nCDDs can be classified in four groups: (i) defects of digestion, absorption and transport of nutrients and electrolytes; (ii) defects of enterocyte differentiation and polarisation; (iii) defects of enteroendocrine cell differentiation; (iv) defects of modulation of intestinal immune response.","status":"public","version":"1.30","version_created":"2025-11-20T10:28:34.792243+11:00","relevant_disorders":["Diarrhea HP:0002014"],"stats":{"number_of_genes":46,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4879","gene_name":"hexosaminidase subunit beta","omim_gene":["606873"],"alias_name":["beta-hexosaminidase subunit beta"],"gene_symbol":"HEXB","hgnc_symbol":"HEXB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:73935848-74018472","ensembl_id":"ENSG00000049860"}},"GRch38":{"90":{"location":"5:74640023-74722647","ensembl_id":"ENSG00000049860"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HEXB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Sandhoff disease, infantile, juvenile, and adult forms, MIM#\t268800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PDJ","AR-JP","parkin"],"biotype":"protein_coding","hgnc_id":"HGNC:8607","gene_name":"parkin RBR E3 ubiquitin protein ligase","omim_gene":["602544"],"alias_name":["E3 ubiquitin ligase"],"gene_symbol":"PRKN","hgnc_symbol":"PRKN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:161768452-163148803","ensembl_id":"ENSG00000185345"}},"GRch38":{"90":{"location":"6:161347420-162727771","ensembl_id":"ENSG00000185345"}}},"hgnc_date_symbol_changed":"2017-02-20"},"entity_type":"gene","entity_name":"PRKN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29644727"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Parkinson disease, juvenile, type 2 MIM#600116"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["KIAA1345","MKS6","JBTS9"],"biotype":"protein_coding","hgnc_id":"HGNC:29253","gene_name":"coiled-coil and C2 domain containing 2A","omim_gene":["612013"],"alias_name":["Meckel syndrome, type 6"],"gene_symbol":"CC2D2A","hgnc_symbol":"CC2D2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:15471489-15603180","ensembl_id":"ENSG00000048342"}},"GRch38":{"90":{"location":"4:15469865-15601557","ensembl_id":"ENSG00000048342"}}},"hgnc_date_symbol_changed":"2007-10-19"},"entity_type":"gene","entity_name":"CC2D2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18387594","18950740","18513680","18950740","19574260","21725307","33486889"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 9, MIM# 612285","Meckel syndrome 6, MIM# 612284","COACH syndrome 2, MIM# 619111"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":129,"hash_id":null,"name":"Joubert syndrome and other neurological ciliopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes associated with Joubert syndrome, Meckel Gruber syndrome and other ciliopathies where structural CNS abnormalities are prominent.\r\n\r\nPlease consider also applying the Cerebellar and Pontocerebellar Hypoplasia panel in the presence of more non-specific cerebellar abnormalities and applying the Ciliopathy panel in the presence of additional clinical features suggestive of a multi-system ciliopathy.","status":"public","version":"1.33","version_created":"2025-12-16T12:55:34.757878+11:00","relevant_disorders":["Molar tooth sign on MRI","HP:0002419; Joubert syndrome","MONDO:0018772"],"stats":{"number_of_genes":69,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11188","gene_name":"SOS Ras/Rho guanine nucleotide exchange factor 2","omim_gene":["601247"],"alias_name":null,"gene_symbol":"SOS2","hgnc_symbol":"SOS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:50583847-50698276","ensembl_id":"ENSG00000100485"}},"GRch38":{"90":{"location":"14:50117120-50231558","ensembl_id":"ENSG00000100485"}}},"hgnc_date_symbol_changed":"1993-10-27"},"entity_type":"gene","entity_name":"SOS2","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; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hnRNPH"],"biotype":"protein_coding","hgnc_id":"HGNC:5041","gene_name":"heterogeneous nuclear ribonucleoprotein H1","omim_gene":["601035"],"alias_name":null,"gene_symbol":"HNRNPH1","hgnc_symbol":"HNRNPH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:179041179-179061785","ensembl_id":"ENSG00000169045"}},"GRch38":{"90":{"location":"5:179614178-179634784","ensembl_id":"ENSG00000169045"}}},"hgnc_date_symbol_changed":"2008-04-18"},"entity_type":"gene","entity_name":"HNRNPH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32335897","29938792","35989590"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, MIM# 620083"],"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":["TGD"],"biotype":"protein_coding","hgnc_id":"HGNC:29","gene_name":"ATP binding cassette subfamily A member 1","omim_gene":["600046"],"alias_name":["Tangier disease"],"gene_symbol":"ABCA1","hgnc_symbol":"ABCA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:107543283-107690518","ensembl_id":"ENSG00000165029"}},"GRch38":{"90":{"location":"9:104781002-104928237","ensembl_id":"ENSG00000165029"}}},"hgnc_date_symbol_changed":"2005-03-17"},"entity_type":"gene","entity_name":"ABCA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10431237","10431236"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Tangier disease, MIM# 205400","HDL deficiency, familial, 1, MIM# 604091"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["somatic","5'UTR"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NY-CO-10","SDCCAG-10"],"biotype":"protein_coding","hgnc_id":"HGNC:10664","gene_name":"CWC27 spliceosome associated protein homolog","omim_gene":["617170"],"alias_name":null,"gene_symbol":"CWC27","hgnc_symbol":"CWC27","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:64064757-64314590","ensembl_id":"ENSG00000153015"}},"GRch38":{"90":{"location":"5:64768930-65018763","ensembl_id":"ENSG00000153015"}}},"hgnc_date_symbol_changed":"2010-01-26"},"entity_type":"gene","entity_name":"CWC27","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28285769","31481716"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CYP1","P450c1"],"biotype":"protein_coding","hgnc_id":"HGNC:2606","gene_name":"cytochrome P450 family 27 subfamily B member 1","omim_gene":["609506"],"alias_name":["VDDR I","1alpha(OH)ase","25-Hydroxyvitamin D3 1alpha-hydroxylase"],"gene_symbol":"CYP27B1","hgnc_symbol":"CYP27B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:58156117-58162769","ensembl_id":"ENSG00000111012"}},"GRch38":{"90":{"location":"12:57762334-57768986","ensembl_id":"ENSG00000111012"}}},"hgnc_date_symbol_changed":"1998-03-24"},"entity_type":"gene","entity_name":"CYP27B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9486994","9415400","12050193","27473561","34492747","33823104"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Vitamin D-dependent rickets, type I MIM#264700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3531","gene_name":"coagulation factor XIII A chain","omim_gene":["134570"],"alias_name":null,"gene_symbol":"F13A1","hgnc_symbol":"F13A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:6144318-6321246","ensembl_id":"ENSG00000124491"}},"GRch38":{"90":{"location":"6:6144085-6321013","ensembl_id":"ENSG00000124491"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"F13A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["1644910","7727776","10027709","33802692","32060721"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Factor XIIIA deficiency, MIM# 613225","MONDO:0013187"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SDR36C1"],"biotype":"protein_coding","hgnc_id":"HGNC:5154","gene_name":"15-hydroxyprostaglandin dehydrogenase","omim_gene":["601688"],"alias_name":["short chain dehydrogenase/reductase family 36C, member 1","15-hydroxyprostaglandin dehydrogenase (NAD(+))"],"gene_symbol":"HPGD","hgnc_symbol":"HPGD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:175411328-175444305","ensembl_id":"ENSG00000164120"}},"GRch38":{"90":{"location":"4:174490177-174523154","ensembl_id":"ENSG00000164120"}}},"hgnc_date_symbol_changed":"1991-07-16"},"entity_type":"gene","entity_name":"HPGD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20406614","32282352","31878983","29282707"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hypertrophic osteoarthropathy, primary, autosomal recessive 1 MIM#259100","Cranioosteoarthropathy MIM#259100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DICE1","HDB","Notchl2","DBI-1","DDX26A","INT6"],"biotype":"protein_coding","hgnc_id":"HGNC:14879","gene_name":"integrator complex subunit 6","omim_gene":["604331"],"alias_name":null,"gene_symbol":"INTS6","hgnc_symbol":"INTS6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:51928213-52028400","ensembl_id":"ENSG00000102786"}},"GRch38":{"90":{"location":"13:51354077-51454264","ensembl_id":"ENSG00000102786"}}},"hgnc_date_symbol_changed":"2006-03-15"},"entity_type":"gene","entity_name":"INTS6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, INTS6-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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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":[]},{"gene_data":{"alias":["CAT1"],"biotype":"protein_coding","hgnc_id":"HGNC:2342","gene_name":"carnitine O-acetyltransferase","omim_gene":["600184"],"alias_name":null,"gene_symbol":"CRAT","hgnc_symbol":"CRAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:131857089-131873468","ensembl_id":"ENSG00000095321"}},"GRch38":{"90":{"location":"9:129094810-129111189","ensembl_id":"ENSG00000095321"}}},"hgnc_date_symbol_changed":"1994-07-04"},"entity_type":"gene","entity_name":"CRAT","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["29395073","31448845"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodegeneration with brain iron accumulation 8, MIM#\t617917","Leigh syndrome"],"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":[]},{"gene_data":{"alias":["SPT5H","SPT5","FLJ34157"],"biotype":"protein_coding","hgnc_id":"HGNC:11469","gene_name":"SPT5 homolog, DSIF elongation factor subunit","omim_gene":["602102"],"alias_name":null,"gene_symbol":"SUPT5H","hgnc_symbol":"SUPT5H","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:39926796-39967310","ensembl_id":"ENSG00000196235"}},"GRch38":{"90":{"location":"19:39436156-39476670","ensembl_id":"ENSG00000196235"}}},"hgnc_date_symbol_changed":"1995-12-04"},"entity_type":"gene","entity_name":"SUPT5H","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40159794","36945604","36054783","32589702"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Erythrocyte disorder, MONDO:0044347, SUPT5H-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":[]},{"gene_data":{"alias":["Tom7"],"biotype":"protein_coding","hgnc_id":"HGNC:21648","gene_name":"translocase of outer mitochondrial membrane 7","omim_gene":["607980"],"alias_name":null,"gene_symbol":"TOMM7","hgnc_symbol":"TOMM7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:22852251-22862470","ensembl_id":"ENSG00000196683"}},"GRch38":{"90":{"location":"7:22812628-22822852","ensembl_id":"ENSG00000196683"}}},"hgnc_date_symbol_changed":"2003-07-21"},"entity_type":"gene","entity_name":"TOMM7","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["36299998","36282599"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Garg-Mishra progeroid syndrome, MIM# 620601"],"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":[]},{"gene_data":{"alias":["HUGT1"],"biotype":"protein_coding","hgnc_id":"HGNC:15663","gene_name":"UDP-glucose glycoprotein glucosyltransferase 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microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12843","gene_name":"YME1 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porphyrias.","status":"public","version":"1.11","version_created":"2025-12-08T10:32:19.181318+11:00","relevant_disorders":["Cutaneous photosensitivity","HP:0000992"],"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"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ZNF379","CGI-89","ZNF380"],"biotype":"protein_coding","hgnc_id":"HGNC:18475","gene_name":"zinc finger DHHC-type containing 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a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TINUR","NOT","RNR1","HZF-3"],"biotype":"protein_coding","hgnc_id":"HGNC:7981","gene_name":"nuclear receptor subfamily 4 group A member 2","omim_gene":["601828"],"alias_name":null,"gene_symbol":"NR4A2","hgnc_symbol":"NR4A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:157180944-157198860","ensembl_id":"ENSG00000153234"}},"GRch38":{"90":{"location":"2:156324432-156342348","ensembl_id":"ENSG00000153234"}}},"hgnc_date_symbol_changed":"1997-07-11"},"entity_type":"gene","entity_name":"NR4A2","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["31428396","32366965"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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. 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With special thanks to Rachel Burt and Lilian Downie. 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It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.65","version_created":"2026-01-21T10:59:30.179226+11:00","relevant_disorders":["Limb-girdle muscular dystrophy","MONDO:0016971; Proximal muscle weakness","HP:0003701; Distal myopathy MONDO:0018949"],"stats":{"number_of_genes":102,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AIF","CMTX4"],"biotype":"protein_coding","hgnc_id":"HGNC:8768","gene_name":"apoptosis inducing factor mitochondria associated 1","omim_gene":["300169"],"alias_name":null,"gene_symbol":"AIFM1","hgnc_symbol":"AIFM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:129263337-129299861","ensembl_id":"ENSG00000156709"}},"GRch38":{"90":{"location":"X:130129362-130165887","ensembl_id":"ENSG00000156709"}}},"hgnc_date_symbol_changed":"2006-11-16"},"entity_type":"gene","entity_name":"AIFM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["20362274","22019070","26173962"],"evidence":["Expert Review Green","Other","Expert Review Green","Expert Review"],"phenotypes":["Combined oxidative phosphorylation deficiency 6 (COXPD6) (MIM#300816)","Encephalamyopathy, Mitochondrial, X-Linked"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3084,"hash_id":null,"name":"Rhabdomyolysis and Metabolic Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nDepending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.46","version_created":"2026-03-31T19:05:14.301918+11:00","relevant_disorders":["Rhabdomyolysis","HP:0003201;Exercise intolerance","HP:0003546;Metabolic myopathy","MONDO:0020123"],"stats":{"number_of_genes":124,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ARPKD","FCYT","FPC"],"biotype":"protein_coding","hgnc_id":"HGNC:9016","gene_name":"PKHD1, fibrocystin/polyductin","omim_gene":["606702"],"alias_name":["tigmin","polyductin","fibrocystin","fibrocystin/polyductin complex"],"gene_symbol":"PKHD1","hgnc_symbol":"PKHD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:51480098-51952423","ensembl_id":"ENSG00000170927"}},"GRch38":{"90":{"location":"6:51615300-52087625","ensembl_id":"ENSG00000170927"}}},"hgnc_date_symbol_changed":"1994-12-15"},"entity_type":"gene","entity_name":"PKHD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Polycystic kidney and hepatic disease, 263200 (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":["CD49f"],"biotype":"protein_coding","hgnc_id":"HGNC:6142","gene_name":"integrin subunit alpha 6","omim_gene":["147556"],"alias_name":null,"gene_symbol":"ITGA6","hgnc_symbol":"ITGA6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:173292082-173371181","ensembl_id":"ENSG00000091409"}},"GRch38":{"90":{"location":"2:172427354-172506282","ensembl_id":"ENSG00000091409"}}},"hgnc_date_symbol_changed":"1991-08-06"},"entity_type":"gene","entity_name":"ITGA6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2873","gene_name":"cytochrome b5 reductase 3","omim_gene":["613213"],"alias_name":["NADH-cytochrome b5 reductase 3"],"gene_symbol":"CYB5R3","hgnc_symbol":"CYB5R3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:43013846-43045574","ensembl_id":"ENSG00000100243"}},"GRch38":{"90":{"location":"22:42617840-42649568","ensembl_id":"ENSG00000100243"}}},"hgnc_date_symbol_changed":"2005-07-13"},"entity_type":"gene","entity_name":"CYB5R3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Methemoglobinemia, type I, 250800 (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":["HS1BP1","HCLSBP1"],"biotype":"protein_coding","hgnc_id":"HGNC:16915","gene_name":"HCLS1 associated protein X-1","omim_gene":["605998"],"alias_name":["HCLS1 (and PKD2) associated protein"],"gene_symbol":"HAX1","hgnc_symbol":"HAX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:154244987-154248351","ensembl_id":"ENSG00000143575"}},"GRch38":{"90":{"location":"1:154272511-154275875","ensembl_id":"ENSG00000143575"}}},"hgnc_date_symbol_changed":"2005-05-19"},"entity_type":"gene","entity_name":"HAX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Neutropenia, severe congenital 3, autosomal recessive, 610738 (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":["PDLIM6","KIAA0613","ZASP"],"biotype":"protein_coding","hgnc_id":"HGNC:15710","gene_name":"LIM domain binding 3","omim_gene":["605906"],"alias_name":["cypher","oracle","Z-band alternatively spliced PDZ motif protein"],"gene_symbol":"LDB3","hgnc_symbol":"LDB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:88428206-88495825","ensembl_id":"ENSG00000122367"}},"GRch38":{"90":{"location":"10:86668449-86736068","ensembl_id":"ENSG00000122367"}}},"hgnc_date_symbol_changed":"2001-12-04"},"entity_type":"gene","entity_name":"LDB3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["36253531"],"evidence":["Expert Review Green","South West GLH","NHS GMS"],"phenotypes":["Cardiomyopathy, dilated, 1C, with or without LVNC, MIM# 601493","Cardiomyopathy, dilated, 2L, MIM# 621237"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ESSS","NP17.3","Np15"],"biotype":"protein_coding","hgnc_id":"HGNC:20372","gene_name":"NADH:ubiquinone oxidoreductase subunit B11","omim_gene":["300403"],"alias_name":["complex I NP17.3 subunit"],"gene_symbol":"NDUFB11","hgnc_symbol":"NDUFB11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:47001615-47004903","ensembl_id":"ENSG00000147123"}},"GRch38":{"90":{"location":"X:47142216-47145504","ensembl_id":"ENSG00000147123"}}},"hgnc_date_symbol_changed":"2004-09-02"},"entity_type":"gene","entity_name":"NDUFB11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28050600","27488349","30423443","27488349"],"evidence":["Expert Review Green","MetBioNet","NHS GMS"],"phenotypes":["Linear skin defects with multiple congenital anomalies 3, 300952","?Mitochondrial complex I deficiency, nuclear type 30, 301021"],"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":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1235","ELD/OSA1","p250R","BAF250b","DAN15","6A3-5"],"biotype":"protein_coding","hgnc_id":"HGNC:18040","gene_name":"AT-rich interaction domain 1B","omim_gene":["614556"],"alias_name":null,"gene_symbol":"ARID1B","hgnc_symbol":"ARID1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:157099063-157531913","ensembl_id":"ENSG00000049618"}},"GRch38":{"90":{"location":"6:156777374-157210779","ensembl_id":"ENSG00000049618"}}},"hgnc_date_symbol_changed":"2004-01-28"},"entity_type":"gene","entity_name":"ARID1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Coffin-Siris syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CK6C","K6C","CK6D","K6D"],"biotype":"protein_coding","hgnc_id":"HGNC:6443","gene_name":"keratin 6A","omim_gene":["148041"],"alias_name":null,"gene_symbol":"KRT6A","hgnc_symbol":"KRT6A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52880958-52887041","ensembl_id":"ENSG00000205420"}},"GRch38":{"90":{"location":"12:52487174-52493257","ensembl_id":"ENSG00000205420"}}},"hgnc_date_symbol_changed":"1991-09-12"},"entity_type":"gene","entity_name":"KRT6A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Pachyonychia congenita"],"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":["JP-2"],"biotype":"protein_coding","hgnc_id":"HGNC:14202","gene_name":"junctophilin 2","omim_gene":["605267"],"alias_name":null,"gene_symbol":"JPH2","hgnc_symbol":"JPH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:42740335-42816218","ensembl_id":"ENSG00000149596"}},"GRch38":{"90":{"location":"20:44111695-44187578","ensembl_id":"ENSG00000149596"}}},"hgnc_date_symbol_changed":"2000-12-08"},"entity_type":"gene","entity_name":"JPH2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Cardiomyopathy, hypertrophic"],"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":["LSH-B","CGB4","hLHB"],"biotype":"protein_coding","hgnc_id":"HGNC:6584","gene_name":"luteinizing hormone beta polypeptide","omim_gene":["152780"],"alias_name":["lutropin, beta chain","interstitial cell stimulating hormone, beta chain","luteinizing hormone beta subunit"],"gene_symbol":"LHB","hgnc_symbol":"LHB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:49519237-49520338","ensembl_id":"ENSG00000104826"}},"GRch38":{"90":{"location":"19:49015980-49017081","ensembl_id":"ENSG00000104826"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"LHB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Hypogonadism"],"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":["MGC11251","TSP-EAR"],"biotype":"protein_coding","hgnc_id":"HGNC:1268","gene_name":"thrombospondin type laminin G domain and EAR repeats","omim_gene":["612920"],"alias_name":null,"gene_symbol":"TSPEAR","hgnc_symbol":"TSPEAR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:45917775-46131495","ensembl_id":"ENSG00000175894"}},"GRch38":{"90":{"location":"21:44497892-44711580","ensembl_id":"ENSG00000175894"}}},"hgnc_date_symbol_changed":"2011-01-25"},"entity_type":"gene","entity_name":"TSPEAR","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Sensorineural deafness"],"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":["MADR2","JV18-1"],"biotype":"protein_coding","hgnc_id":"HGNC:6768","gene_name":"SMAD family member 2","omim_gene":["601366"],"alias_name":null,"gene_symbol":"SMAD2","hgnc_symbol":"SMAD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:45357922-45457515","ensembl_id":"ENSG00000175387"}},"GRch38":{"90":{"location":"18:47808957-47931146","ensembl_id":"ENSG00000175387"}}},"hgnc_date_symbol_changed":"2004-05-26"},"entity_type":"gene","entity_name":"SMAD2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29967133","29392890"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Loeys-Dietz syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["GALA"],"biotype":"protein_coding","hgnc_id":"HGNC:4296","gene_name":"galactosidase alpha","omim_gene":["300644"],"alias_name":null,"gene_symbol":"GLA","hgnc_symbol":"GLA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:100652791-100662913","ensembl_id":"ENSG00000102393"}},"GRch38":{"90":{"location":"X:101397803-101407925","ensembl_id":"ENSG00000102393"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"GLA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NSW Health Pathology","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3437,"hash_id":null,"name":"Incidentalome_PREGEN_DRAFT","disease_group":"","disease_sub_group":"","description":"Imported to facilitate update work. Do not use while labeled as DRAFT","status":"public","version":"0.43","version_created":"2021-01-20T16:42:09.286633+11:00","relevant_disorders":[],"stats":{"number_of_genes":173,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NCCT"],"biotype":"protein_coding","hgnc_id":"HGNC:10912","gene_name":"solute carrier family 12 member 3","omim_gene":["600968"],"alias_name":null,"gene_symbol":"SLC12A3","hgnc_symbol":"SLC12A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:56899119-56949762","ensembl_id":"ENSG00000070915"}},"GRch38":{"90":{"location":"16:56865207-56915850","ensembl_id":"ENSG00000070915"}}},"hgnc_date_symbol_changed":"1995-10-02"},"entity_type":"gene","entity_name":"SLC12A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34604137, 35170241"],"evidence":["Expert Review Green"],"phenotypes":["Disorders of magnesium metabolism","Gitelman syndrome MONDO:0009904"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3469,"hash_id":null,"name":"Metal Metabolism Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause inborn errors of molybdenum, copper, iron, manganese, zinc, selenium, and magnesium metabolism.  \r\nThis panel was based on the Genomics England/NHS Genomics Medicine Service 'Iron metabolism disorders' panel. It is part of the Metabolic Disorders Superpanel.","status":"public","version":"0.54","version_created":"2026-02-17T14:35:14.331246+11:00","relevant_disorders":["Abnormality of iron homeostasis","HP:0011031;Abnormal blood transition element cation concentration","HP:0011030"],"stats":{"number_of_genes":51,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["JTK13","CD221","IGFIR","MGC18216","IGFR"],"biotype":"protein_coding","hgnc_id":"HGNC:5465","gene_name":"insulin like growth factor 1 receptor","omim_gene":["147370"],"alias_name":null,"gene_symbol":"IGF1R","hgnc_symbol":"IGF1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:99192200-99507759","ensembl_id":"ENSG00000140443"}},"GRch38":{"90":{"location":"15:98648971-98964530","ensembl_id":"ENSG00000140443"}}},"hgnc_date_symbol_changed":"1988-07-07"},"entity_type":"gene","entity_name":"IGF1R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14657428","22130793","23045302","26252249","17264177","31586944"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Insulin-like growth factor I, resistance to, MIM # 270450"],"mode_of_inheritance":"BOTH monoallelic and 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":["p300","KAT3B"],"biotype":"protein_coding","hgnc_id":"HGNC:3373","gene_name":"E1A binding protein p300","omim_gene":["602700"],"alias_name":["histone acetyltransferase p300"],"gene_symbol":"EP300","hgnc_symbol":"EP300","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:41487790-41576081","ensembl_id":"ENSG00000100393"}},"GRch38":{"90":{"location":"22:41091786-41180079","ensembl_id":"ENSG00000100393"}}},"hgnc_date_symbol_changed":"1998-07-31"},"entity_type":"gene","entity_name":"EP300","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Rubinstein-Taybi syndrome 180849"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3729,"hash_id":null,"name":"Hand and foot malformations","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.","status":"public","version":"0.89","version_created":"2026-04-07T13:49:34.993963+10:00","relevant_disorders":["Abnormal hand morphology","HP:0005922; Abnormal foot morphology","HP:0001760"],"stats":{"number_of_genes":101,"number_of_strs":1,"number_of_regions":5},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GluA3","GLURC","MRX94"],"biotype":"protein_coding","hgnc_id":"HGNC:4573","gene_name":"glutamate ionotropic receptor AMPA type subunit 3","omim_gene":["305915"],"alias_name":null,"gene_symbol":"GRIA3","hgnc_symbol":"GRIA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:122318006-122624766","ensembl_id":"ENSG00000125675"}},"GRch38":{"90":{"location":"X:123184153-123490915","ensembl_id":"ENSG00000125675"}}},"hgnc_date_symbol_changed":"1992-02-26"},"entity_type":"gene","entity_name":"GRIA3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["32977175","17989220"],"evidence":["Expert Review Amber","Genomics England PanelApp"],"phenotypes":["Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:29162","gene_name":"family with sequence similarity 149 member B1","omim_gene":null,"alias_name":null,"gene_symbol":"FAM149B1","hgnc_symbol":"FAM149B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:74927924-75004262","ensembl_id":"ENSG00000138286"}},"GRch38":{"90":{"location":"10:73168166-73244504","ensembl_id":"ENSG00000138286"}}},"hgnc_date_symbol_changed":"2007-11-14"},"entity_type":"gene","entity_name":"FAM149B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30905400"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Joubert syndrome 36 - MIM#618763"],"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":["Nav1.3"],"biotype":"protein_coding","hgnc_id":"HGNC:10590","gene_name":"sodium voltage-gated channel alpha subunit 3","omim_gene":["182391"],"alias_name":null,"gene_symbol":"SCN3A","hgnc_symbol":"SCN3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:165944032-166060577","ensembl_id":"ENSG00000153253"}},"GRch38":{"90":{"location":"2:165087522-165204067","ensembl_id":"ENSG00000153253"}}},"hgnc_date_symbol_changed":"1992-04-10"},"entity_type":"gene","entity_name":"SCN3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["32515017","30146301","29740860"],"evidence":["Expert Review Green","Genomics England PanelApp","Literature","Genetic Health Queensland"],"phenotypes":["Epilepsy, familial focal, with variable foci 4, MIM# 617935","Epileptic encephalopathy, early infantile, 62, MIM# 617938","Intellectual disability","Malformations of cortical development"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2910","gene_name":"delta like canonical Notch ligand 4","omim_gene":["605185"],"alias_name":null,"gene_symbol":"DLL4","hgnc_symbol":"DLL4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:41221538-41231237","ensembl_id":"ENSG00000128917"}},"GRch38":{"90":{"location":"15:40929340-40939072","ensembl_id":"ENSG00000128917"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"DLL4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26299364","33899511","31261205","29924900"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Adams-Oliver syndrome 6, MIM#616589"],"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. 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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":["KIAA0233"],"biotype":"protein_coding","hgnc_id":"HGNC:28993","gene_name":"piezo type mechanosensitive ion channel component 1","omim_gene":["611184"],"alias_name":null,"gene_symbol":"PIEZO1","hgnc_symbol":"PIEZO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:88781751-88851619","ensembl_id":"ENSG00000103335"}},"GRch38":{"90":{"location":"16:88715343-88785211","ensembl_id":"ENSG00000103335"}}},"hgnc_date_symbol_changed":"2011-08-31"},"entity_type":"gene","entity_name":"PIEZO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23695678","30712880","26333996","28425981","23479567"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM #194380","Lymphatic malformation 6, OMIM #616843"],"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. 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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. 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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. 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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":["CDHF14","FAT-J","CDHR11"],"biotype":"protein_coding","hgnc_id":"HGNC:23109","gene_name":"FAT atypical cadherin 4","omim_gene":["612411"],"alias_name":["cadherin-related family member 11"],"gene_symbol":"FAT4","hgnc_symbol":"FAT4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:126237554-126414087","ensembl_id":"ENSG00000196159"}},"GRch38":{"90":{"location":"4:125316399-125492932","ensembl_id":"ENSG00000196159"}}},"hgnc_date_symbol_changed":"2003-09-11"},"entity_type":"gene","entity_name":"FAT4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29681106"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006","Van Maldergem syndrome 2 MIM#615546"],"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":["FLJ25530","hepaCAM","GLIALCAM"],"biotype":"protein_coding","hgnc_id":"HGNC:26361","gene_name":"hepatic and glial cell adhesion molecule","omim_gene":["611642"],"alias_name":["glial cell adhesion molecule"],"gene_symbol":"HEPACAM","hgnc_symbol":"HEPACAM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:124789089-124806308","ensembl_id":"ENSG00000165478"}},"GRch38":{"90":{"location":"11:124919193-124936412","ensembl_id":"ENSG00000165478"}}},"hgnc_date_symbol_changed":"2007-01-22"},"entity_type":"gene","entity_name":"HEPACAM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21419380"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM#613925 (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":["hWNT5A"],"biotype":"protein_coding","hgnc_id":"HGNC:12784","gene_name":"Wnt family member 5A","omim_gene":["164975"],"alias_name":["WNT-5A protein"],"gene_symbol":"WNT5A","hgnc_symbol":"WNT5A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:55499743-55523973","ensembl_id":"ENSG00000114251"}},"GRch38":{"90":{"location":"3:55465715-55490539","ensembl_id":"ENSG00000114251"}}},"hgnc_date_symbol_changed":"1993-07-06"},"entity_type":"gene","entity_name":"WNT5A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Robinow syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:603","gene_name":"apolipoprotein B","omim_gene":["107730"],"alias_name":null,"gene_symbol":"APOB","hgnc_symbol":"APOB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:21224301-21266945","ensembl_id":"ENSG00000084674"}},"GRch38":{"90":{"location":"2:21001429-21044073","ensembl_id":"ENSG00000084674"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"APOB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Hypercholesterolaemia, familial, 2, MIM# 144010"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["for review","treatable"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["mitAAT","KATIV","KAT4","KYAT4"],"biotype":"protein_coding","hgnc_id":"HGNC:4433","gene_name":"glutamic-oxaloacetic transaminase 2","omim_gene":["138150"],"alias_name":["kynurenine aminotransferase IV","aspartate aminotransferase 2","aspartate transaminase 2"],"gene_symbol":"GOT2","hgnc_symbol":"GOT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:58741035-58768261","ensembl_id":"ENSG00000125166"}},"GRch38":{"90":{"location":"16:58707131-58734357","ensembl_id":"ENSG00000125166"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"GOT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Developmental and epileptic encephalopathy 82, MIM#\t618721"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","neurological"],"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":["CD107b"],"biotype":"protein_coding","hgnc_id":"HGNC:6501","gene_name":"lysosomal associated membrane protein 2","omim_gene":["309060"],"alias_name":null,"gene_symbol":"LAMP2","hgnc_symbol":"LAMP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:119561682-119603220","ensembl_id":"ENSG00000005893"}},"GRch38":{"90":{"location":"X:120427827-120469365","ensembl_id":"ENSG00000005893"}}},"hgnc_date_symbol_changed":"1990-08-03"},"entity_type":"gene","entity_name":"LAMP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25228319","27165304","30681346"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Danon disease, MIM#300257"],"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":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CMH10"],"biotype":"protein_coding","hgnc_id":"HGNC:7583","gene_name":"myosin light chain 2","omim_gene":["160781"],"alias_name":["cardiac ventricular myosin light chain 2"],"gene_symbol":"MYL2","hgnc_symbol":"MYL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:111348623-111358526","ensembl_id":"ENSG00000111245"}},"GRch38":{"90":{"location":"12:110910819-110920722","ensembl_id":"ENSG00000111245"}}},"hgnc_date_symbol_changed":"1991-11-21"},"entity_type":"gene","entity_name":"MYL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30681346"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cardiomyopathy, hypertrophic, 10, MIM# 608758"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FAA","FA-H","FAH"],"biotype":"protein_coding","hgnc_id":"HGNC:3582","gene_name":"Fanconi anemia complementation group A","omim_gene":["607139"],"alias_name":null,"gene_symbol":"FANCA","hgnc_symbol":"FANCA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:89803957-89883065","ensembl_id":"ENSG00000187741"}},"GRch38":{"90":{"location":"16:89737549-89816657","ensembl_id":"ENSG00000187741"}}},"hgnc_date_symbol_changed":"1995-12-22"},"entity_type":"gene","entity_name":"FANCA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Fanconi anaemia, complementation group A, MIM# 227650","MONDO:0009215"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PTS1R"],"biotype":"protein_coding","hgnc_id":"HGNC:9719","gene_name":"peroxisomal biogenesis factor 5","omim_gene":["600414"],"alias_name":["peroxisomal targeting signal 1 receptor","peroxisomal import receptor 5"],"gene_symbol":"PEX5","hgnc_symbol":"PEX5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:7341281-7371170","ensembl_id":"ENSG00000139197"}},"GRch38":{"90":{"location":"12:7188685-7218574","ensembl_id":"ENSG00000139197"}}},"hgnc_date_symbol_changed":"2004-03-19"},"entity_type":"gene","entity_name":"PEX5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21031596","7719337","26220973","20301621"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Peroxisome biogenesis disorder 2A (Zellweger), MIM#214110"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSPC150","FANCT"],"biotype":"protein_coding","hgnc_id":"HGNC:25009","gene_name":"ubiquitin conjugating enzyme E2 T","omim_gene":["610538"],"alias_name":null,"gene_symbol":"UBE2T","hgnc_symbol":"UBE2T","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:202300785-202311108","ensembl_id":"ENSG00000077152"}},"GRch38":{"90":{"location":"1:202331657-202341980","ensembl_id":"ENSG00000077152"}}},"hgnc_date_symbol_changed":"2005-03-21"},"entity_type":"gene","entity_name":"UBE2T","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32646888","26119737","26046368","26085575"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Fanconi anemia, complementation group T MIM#616435"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hFKBP65","FLJ22041","FKBP6","FLJ20683","FLJ23833"],"biotype":"protein_coding","hgnc_id":"HGNC:18169","gene_name":"FK506 binding protein 10","omim_gene":["607063"],"alias_name":null,"gene_symbol":"FKBP10","hgnc_symbol":"FKBP10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:39968932-39979465","ensembl_id":"ENSG00000141756"}},"GRch38":{"90":{"location":"17:41812680-41823217","ensembl_id":"ENSG00000141756"}}},"hgnc_date_symbol_changed":"2002-03-12"},"entity_type":"gene","entity_name":"FKBP10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20362275","22718341","22689593","22718341"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Bruck syndrome 1, MIM#259450","osteogenesis imperfecta, type XI, MIM#610968"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FSP2","ADPSP","KIAA1083"],"biotype":"protein_coding","hgnc_id":"HGNC:11233","gene_name":"spastin","omim_gene":["604277"],"alias_name":null,"gene_symbol":"SPAST","hgnc_symbol":"SPAST","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:32288680-32382706","ensembl_id":"ENSG00000021574"}},"GRch38":{"90":{"location":"2:32063611-32157637","ensembl_id":"ENSG00000021574"}}},"hgnc_date_symbol_changed":"2005-03-17"},"entity_type":"gene","entity_name":"SPAST","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["36117209"],"evidence":["Expert Review Red","Expert Review","Expert list"],"phenotypes":["Spastic paraplegia 4, autosomal dominant, MIM# 182601"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4290,"hash_id":null,"name":"Speech apraxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Childhood apraxia of speech (CAS; synonymous with speech apraxia/dyspraxia or verbal apraxia/dyspraxia) is a non-progressive neurodevelopmental disorder with a primary presentation of speech planning and programming disorder.\r\n\r\nCAS involves difficulty producing sequences of sounds with accuracy and correct prosody, resulting in poor speech intelligibility. Individuals with CAS typically have very delayed development of first spoken words. Other common co-occurring features may include fine and gross motor impairment, language impairment, learning difficulties, intellectual disability, autism and attention deficit hyperactivity disorder. Other associated features may include hypotonia, seizures, and facial dysmorphism/dysmorphology.\r\n \r\nPMID: 38366112 summarises three gene discovery cohort studies of individuals with CAS. Diagnostic yield ranged between 26-42%.\r\n\r\nThe aetiology of CAS is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia and Ataxia panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Angela Morgan, Michael Hildebrand, Thomas Scerri, David Amor and team for their contribution to the development of this panel.","status":"public","version":"1.28","version_created":"2026-03-06T16:38:48.591739+11:00","relevant_disorders":[],"stats":{"number_of_genes":35,"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":["D22S676","D22S750","TC2"],"biotype":"protein_coding","hgnc_id":"HGNC:11653","gene_name":"transcobalamin 2","omim_gene":["613441"],"alias_name":["macrocytic anemia"],"gene_symbol":"TCN2","hgnc_symbol":"TCN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:31002825-31023265","ensembl_id":"ENSG00000185339"}},"GRch38":{"90":{"location":"22:30606838-30627278","ensembl_id":"ENSG00000185339"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"TCN2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["PMID: 24305960"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Transcobalamin II deficiency, MIM#275350"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4456,"hash_id":null,"name":"Genomic newborn screening: ICoNS","disease_group":"Screening","disease_sub_group":"","description":"UNDER CONSTRUCTION. DO NOT USE.","status":"public","version":"0.35","version_created":"2026-03-13T07:28:16.180055+11:00","relevant_disorders":[],"stats":{"number_of_genes":20,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["JH","HFE2A","RGMC","HJV","hemojuvelin","haemojuvelin"],"biotype":"protein_coding","hgnc_id":"HGNC:4887","gene_name":"hemochromatosis type 2 (juvenile)","omim_gene":["608374"],"alias_name":["repulsive guidance molecule c"],"gene_symbol":"HFE2","hgnc_symbol":"HFE2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:145413095-145417545","ensembl_id":"ENSG00000168509"}},"GRch38":{"90":{"location":"1:146017468-146036746","ensembl_id":"ENSG00000168509"}}},"hgnc_date_symbol_changed":"1999-05-25"},"entity_type":"gene","entity_name":"HFE2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Hemochromatosis, type 2A, MIM# 602390"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":4521,"hash_id":null,"name":"Hypogonadotropic hypogonadism","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.","status":"public","version":"0.111","version_created":"2026-04-04T15:37:44.052003+11:00","relevant_disorders":[],"stats":{"number_of_genes":83,"number_of_strs":0,"number_of_regions":1},"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}]}