{"count":36052,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=218","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=216","results":[{"gene_data":{"alias":["OK/SW-cl.56","MGC16435","M40","Tubb5"],"biotype":"protein_coding","hgnc_id":"HGNC:20778","gene_name":"tubulin beta class I","omim_gene":["191130"],"alias_name":["class I beta-tubulin","beta1-tubulin"],"gene_symbol":"TUBB","hgnc_symbol":"TUBB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:30687978-30693203","ensembl_id":"ENSG00000196230"}},"GRch38":{"90":{"location":"6:30720201-30725426","ensembl_id":"ENSG00000196230"}}},"hgnc_date_symbol_changed":"2004-11-22"},"entity_type":"gene","entity_name":"TUBB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":18,"hash_id":null,"name":"Polymicrogyria and Schizencephaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nPlease consider the broader 'Malformations of cortical development' superpanel, particularly in the presence of complex or atypical imaging findings.","status":"public","version":"0.204","version_created":"2025-12-18T09:49:46.643708+11:00","relevant_disorders":["Polymicrogyria","HP:0002126;Schizencephaly","HP:0010636"],"stats":{"number_of_genes":88,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OMI","PARK13"],"biotype":"protein_coding","hgnc_id":"HGNC:14348","gene_name":"HtrA serine peptidase 2","omim_gene":["606441"],"alias_name":null,"gene_symbol":"HTRA2","hgnc_symbol":"HTRA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74756504-74760472","ensembl_id":"ENSG00000115317"}},"GRch38":{"90":{"location":"2:74529377-74533348","ensembl_id":"ENSG00000115317"}}},"hgnc_date_symbol_changed":"2005-08-19"},"entity_type":"gene","entity_name":"HTRA2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","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":null},{"gene_data":{"alias":["MGC71996","NBIA3"],"biotype":"protein_coding","hgnc_id":"HGNC:3999","gene_name":"ferritin light chain","omim_gene":["134790"],"alias_name":["ferritin light polypeptide-like 3","L apoferritin","ferritin L subunit","ferritin light chain","ferritin L-chain","neurodegeneration with brain iron accumulation 3"],"gene_symbol":"FTL","hgnc_symbol":"FTL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:49468558-49470135","ensembl_id":"ENSG00000087086"}},"GRch38":{"90":{"location":"19:48965301-48966878","ensembl_id":"ENSG00000087086"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"FTL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23447832","20301320"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":[],"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":"2.55","version_created":"2026-04-17T16:01:21.596122+10:00","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:16882","gene_name":"hyperpolarization activated cyclic nucleotide gated potassium channel 4","omim_gene":["605206"],"alias_name":null,"gene_symbol":"HCN4","hgnc_symbol":"HCN4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:73612200-73661605","ensembl_id":"ENSG00000138622"}},"GRch38":{"90":{"location":"15:73319859-73369264","ensembl_id":"ENSG00000138622"}}},"hgnc_date_symbol_changed":"2002-09-02"},"entity_type":"gene","entity_name":"HCN4","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["30071989","27173043"],"evidence":["Expert Review Amber","ClinGen"],"phenotypes":["Sick sinus syndrome 2 with cardiac noncompaction and ascending aorta dilation"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":44,"hash_id":null,"name":"Aortopathy_Connective Tissue Disorders","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt contains genes that cause isolated thoracic aortic aneurysm; connective tissue disorders, including Ehlers Danlos syndromes and cutis laxa; and other syndromic/multi-system disorders where connective tissue involvement is prominent.\r\n\r\nThis panel incorporates assessments from the ClinGen Familial Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel (PMID: 30071989) and the  \r\nThe 2017 international classification of the Ehlers-Danlos syndromes (PMID: 28306229).\r\n\r\nThe panel has been compared against the Genomics England PanelApp 'Thoracic Aortic Aneurysm and Dissection' and 'Ehlers Danlos syndrome' panels, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England.\r\n\r\nFurther comparison and consolidation undertaken against the Genomics England/GMS 'Thoracic aortic aneurysm and dissection' panel V4.0 in July 2025.","status":"public","version":"1.105","version_created":"2026-02-05T18:09:24.690760+11:00","relevant_disorders":["Aortic aneurysm","HP:0004942;Joint dislocation","HP:0001373;Cutis laxa","HP:0000973; Ectopia lentis","HP:0001083;Arachnodactyly","HP:0001166"],"stats":{"number_of_genes":100,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2201","gene_name":"collagen type III alpha 1 chain","omim_gene":["120180"],"alias_name":null,"gene_symbol":"COL3A1","hgnc_symbol":"COL3A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:189839046-189877472","ensembl_id":"ENSG00000168542"}},"GRch38":{"90":{"location":"2:188974320-189012746","ensembl_id":"ENSG00000168542"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL3A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30071989","25758994"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ehlers-Danlos syndrome, vascular type, MIM#\t130050","Polymicrogyria with or without vascular-type EDS, MIM#\t618343"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":44,"hash_id":null,"name":"Aortopathy_Connective Tissue Disorders","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt contains genes that cause isolated thoracic aortic aneurysm; connective tissue disorders, including Ehlers Danlos syndromes and cutis laxa; and other syndromic/multi-system disorders where connective tissue involvement is prominent.\r\n\r\nThis panel incorporates assessments from the ClinGen Familial Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel (PMID: 30071989) and the  \r\nThe 2017 international classification of the Ehlers-Danlos syndromes (PMID: 28306229).\r\n\r\nThe panel has been compared against the Genomics England PanelApp 'Thoracic Aortic Aneurysm and Dissection' and 'Ehlers Danlos syndrome' panels, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England.\r\n\r\nFurther comparison and consolidation undertaken against the Genomics England/GMS 'Thoracic aortic aneurysm and dissection' panel V4.0 in July 2025.","status":"public","version":"1.105","version_created":"2026-02-05T18:09:24.690760+11:00","relevant_disorders":["Aortic aneurysm","HP:0004942;Joint dislocation","HP:0001373;Cutis laxa","HP:0000973; Ectopia lentis","HP:0001083;Arachnodactyly","HP:0001166"],"stats":{"number_of_genes":100,"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":["hRrp40p","Rrp40p","RRP40","CGI-102","p10","hRrp-40"],"biotype":"protein_coding","hgnc_id":"HGNC:17944","gene_name":"exosome component 3","omim_gene":["606489"],"alias_name":["exosome component Rrp40","CGI-102 protein"],"gene_symbol":"EXOSC3","hgnc_symbol":"EXOSC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:37766975-37801434","ensembl_id":"ENSG00000107371"}},"GRch38":{"90":{"location":"9:37766978-37801437","ensembl_id":"ENSG00000107371"}}},"hgnc_date_symbol_changed":"2004-03-26"},"entity_type":"gene","entity_name":"EXOSC3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23284067"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Pontocerebellar hypoplasia, type 1B, MIM# 614678"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DENN","KIAA0358","RAB3GEP"],"biotype":"protein_coding","hgnc_id":"HGNC:6766","gene_name":"MAP kinase activating death domain","omim_gene":["603584"],"alias_name":null,"gene_symbol":"MADD","hgnc_symbol":"MADD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:47290712-47351582","ensembl_id":"ENSG00000110514"}},"GRch38":{"90":{"location":"11:47269161-47330031","ensembl_id":"ENSG00000110514"}}},"hgnc_date_symbol_changed":"1999-12-17"},"entity_type":"gene","entity_name":"MADD","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":51,"hash_id":null,"name":"Autism","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.249","version_created":"2026-04-18T18:49:11.555064+10:00","relevant_disorders":["Autism","HP:0000717"],"stats":{"number_of_genes":157,"number_of_strs":0,"number_of_regions":6},"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":["FAG"],"biotype":"protein_coding","hgnc_id":"HGNC:3588","gene_name":"Fanconi anemia complementation group G","omim_gene":["602956"],"alias_name":["DNA repair protein XRCC9","X-ray repair, complementing defective, in Chinese hamster, 9","X-ray repair complementing defective repair in Chinese hamster cells 9"],"gene_symbol":"FANCG","hgnc_symbol":"FANCG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:35073832-35080013","ensembl_id":"ENSG00000221829"}},"GRch38":{"90":{"location":"9:35073835-35080016","ensembl_id":"ENSG00000221829"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9806548","12552564"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anaemia, complementation group G, MIM# 614082","MONDO:0013565"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":56,"hash_id":null,"name":"Bone Marrow Failure","disease_group":"Haematological disorders","disease_sub_group":"","description":"Bone marrow failure (BMF) refers to the decreased production of one or more major haematopoietic lineages which leads to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.","status":"public","version":"1.141","version_created":"2026-03-17T18:48:23.244194+11:00","relevant_disorders":["Abnormality of multiple cell lineages of the bone marrow","HP:0012145"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3153","gene_name":"extracellular matrix protein 1","omim_gene":["602201"],"alias_name":null,"gene_symbol":"ECM1","hgnc_symbol":"ECM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:150480538-150486265","ensembl_id":"ENSG00000143369"}},"GRch38":{"90":{"location":"1:150508062-150513789","ensembl_id":"ENSG00000143369"}}},"hgnc_date_symbol_changed":"1996-09-19"},"entity_type":"gene","entity_name":"ECM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27398129","26336196","12603844"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Urbach-Wiethe disease, MIM# 247100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["CDGS","CDG1a","PMI","PMI1"],"biotype":"protein_coding","hgnc_id":"HGNC:9115","gene_name":"phosphomannomutase 2","omim_gene":["601785"],"alias_name":["phosphomannose isomerase 1","mannose-6-phosphate isomerase"],"gene_symbol":"PMM2","hgnc_symbol":"PMM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:8882680-8943188","ensembl_id":"ENSG00000140650"}},"GRch38":{"90":{"location":"16:8788823-8849331","ensembl_id":"ENSG00000140650"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PMM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21541725"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type Ia 212065"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":72,"hash_id":null,"name":"Cerebellar and Pontocerebellar Hypoplasia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the panels used by VCGS and RMH and is a consensus panel maintained by both.","status":"public","version":"1.100","version_created":"2026-04-02T11:42:58.167964+11:00","relevant_disorders":["Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879"],"stats":{"number_of_genes":122,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ACAD5"],"biotype":"protein_coding","hgnc_id":"HGNC:4189","gene_name":"glutaryl-CoA dehydrogenase","omim_gene":["608801"],"alias_name":null,"gene_symbol":"GCDH","hgnc_symbol":"GCDH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:13001840-13025021","ensembl_id":"ENSG00000105607"}},"GRch38":{"90":{"location":"19:12891026-12914207","ensembl_id":"ENSG00000105607"}}},"hgnc_date_symbol_changed":"1992-12-17"},"entity_type":"gene","entity_name":"GCDH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30542205","26593172","38693247"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Glutaric aciduria, type I MIM#231670"],"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":null},{"gene_data":{"alias":["71-7A","JBTS10"],"biotype":"protein_coding","hgnc_id":"HGNC:2567","gene_name":"OFD1, centriole and centriolar satellite protein","omim_gene":["300170"],"alias_name":null,"gene_symbol":"OFD1","hgnc_symbol":"OFD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:13752832-13787480","ensembl_id":"ENSG00000046651"}},"GRch38":{"90":{"location":"X:13734745-13769353","ensembl_id":"ENSG00000046651"}}},"hgnc_date_symbol_changed":"1998-10-01"},"entity_type":"gene","entity_name":"OFD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32276433","31373179"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 10, MIM 300804","Orofaciodigital syndrome I, MIM 311200","Simpson-Golabi-Behmel syndrome, type 2, MIM 300209","Primary ciliary dyskinesia"],"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":82,"hash_id":null,"name":"Ciliary Dyskinesia","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.75","version_created":"2026-03-30T10:17:46.701193+11:00","relevant_disorders":["Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205"],"stats":{"number_of_genes":77,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CDHN","CD325"],"biotype":"protein_coding","hgnc_id":"HGNC:1759","gene_name":"cadherin 2","omim_gene":["114020"],"alias_name":["N-cadherin"],"gene_symbol":"CDH2","hgnc_symbol":"CDH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:25530930-25757410","ensembl_id":"ENSG00000170558"}},"GRch38":{"90":{"location":"18:27950966-28177446","ensembl_id":"ENSG00000170558"}}},"hgnc_date_symbol_changed":"1991-09-13"},"entity_type":"gene","entity_name":"CDH2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["28280076","15662031"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Arrhythmogenic right ventricular dysplasia, familial, 14 MIM#618920"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":95,"hash_id":null,"name":"Dilated Cardiomyopathy","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes typically associated with isolated dilated cardiomyopathy, with onset in adolescence or adulthood. For early onset dilated cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England 'Dilated Cardiomyopathy - teen and adult' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England 5/8/2020.\r\n\r\nThe panel is aligned with the assessments of DCM genes by ClinGen, Jordan E et al, 2021, PMID 33947203.","status":"public","version":"1.66","version_created":"2026-04-02T19:34:23.537467+11:00","relevant_disorders":["Dilated cardiomyopathy","HP:0001644"],"stats":{"number_of_genes":69,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CDHF13","LAH"],"biotype":"protein_coding","hgnc_id":"HGNC:21307","gene_name":"desmoglein 4","omim_gene":["607892"],"alias_name":null,"gene_symbol":"DSG4","hgnc_symbol":"DSG4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:28956740-28994875","ensembl_id":"ENSG00000175065"}},"GRch38":{"90":{"location":"18:31376777-31414912","ensembl_id":"ENSG00000175065"}}},"hgnc_date_symbol_changed":"2003-06-04"},"entity_type":"gene","entity_name":"DSG4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12705872","16439973","16543896","16575393","17392831"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hypotrichosis 6, MIM#607903"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":97,"hash_id":null,"name":"Desmosomal disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nDesmosomal disorders typically affect skin, hair and heart, causing blistering/peeling, alopecia/hypotrichosis and cardiomyopathy.","status":"public","version":"1.4","version_created":"2026-03-24T17:36:11.745191+11:00","relevant_disorders":["Abnormal blistering of the skin","HP:0008066; Alopecia","HP:0001596"],"stats":{"number_of_genes":14,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6715","gene_name":"latent transforming growth factor beta binding protein 2","omim_gene":["602091"],"alias_name":null,"gene_symbol":"LTBP2","hgnc_symbol":"LTBP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:74964873-75079306","ensembl_id":"ENSG00000119681"}},"GRch38":{"90":{"location":"14:74498170-74612378","ensembl_id":"ENSG00000119681"}}},"hgnc_date_symbol_changed":"1995-05-11"},"entity_type":"gene","entity_name":"LTBP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19656777","19361779","20617341","32165823","30380740","30565850"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Glaucoma 3, primary congenital, D 613086","Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, MIM# 251750"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":105,"hash_id":null,"name":"Glaucoma congenital","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Glaucoma (developmental)' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England, 7/8/2020.","status":"public","version":"1.12","version_created":"2026-04-07T13:50:17.268940+10:00","relevant_disorders":["Glaucoma","HP:0000501"],"stats":{"number_of_genes":28,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC13040"],"biotype":"protein_coding","hgnc_id":"HGNC:28188","gene_name":"chromosome 11 open reading frame 70","omim_gene":null,"alias_name":null,"gene_symbol":"C11orf70","hgnc_symbol":"C11orf70","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:101918174-101955291","ensembl_id":"ENSG00000137691"}},"GRch38":{"90":{"location":"11:102047443-102084560","ensembl_id":"ENSG00000137691"}}},"hgnc_date_symbol_changed":"2006-03-31"},"entity_type":"gene","entity_name":"C11orf70","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29727693","29727692"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 38, MIM# 618063"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":108,"hash_id":null,"name":"Heterotaxy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Laterality disorders and isomerism' panel V1.19, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.45","version_created":"2026-03-17T16:09:39.911604+11:00","relevant_disorders":["Heterotaxy","HP:0030853; Dextrocardia","HP:0001651; Asplenia","HP:0001746; Abnormal spatial orientation of cardiac segments","HP:0011534; Polysplenia","HP:0001748;Midline liver","HP:0034188"],"stats":{"number_of_genes":67,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CEV14","Trip230","GMAP-210","GMAP210"],"biotype":"protein_coding","hgnc_id":"HGNC:12305","gene_name":"thyroid hormone receptor interactor 11","omim_gene":["604505"],"alias_name":["golgi-microtubule-associated-protein of 210 kDa"],"gene_symbol":"TRIP11","hgnc_symbol":"TRIP11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:92432335-92507240","ensembl_id":"ENSG00000100815"}},"GRch38":{"90":{"location":"14:91965991-92040896","ensembl_id":"ENSG00000100815"}}},"hgnc_date_symbol_changed":"1999-03-19"},"entity_type":"gene","entity_name":"TRIP11","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["30951048","8897040"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Achondrogenesis, type IA, MIM#\t200600"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3579","gene_name":"fumarylacetoacetate hydrolase","omim_gene":["613871"],"alias_name":["fumarylacetoacetase"],"gene_symbol":"FAH","hgnc_symbol":"FAH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:80444832-80479288","ensembl_id":"ENSG00000103876"}},"GRch38":{"90":{"location":"15:80152490-80186946","ensembl_id":"ENSG00000103876"}}},"hgnc_date_symbol_changed":"1989-06-07"},"entity_type":"gene","entity_name":"FAH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":["Tyrosinemia, type I, MIM# 276700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":122,"hash_id":null,"name":"Hypophosphataemia or rickets","disease_group":"Endocrine disorders; Skeletal disorders","disease_sub_group":"","description":"This panel contains genes associated with hypophosphataemia or rickets. \r\n\r\nIt has been compared against the Genomics England PanelApp 'hypophosphataemia or rickets' panel V4.1, with all discrepancies reviewed and resolved (October 2025).","status":"public","version":"0.53","version_created":"2026-02-05T11:00:41.159014+11:00","relevant_disorders":[],"stats":{"number_of_genes":19,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ11222","SPATA40"],"biotype":"protein_coding","hgnc_id":"HGNC:29636","gene_name":"meiosis specific nuclear structural 1","omim_gene":["610766"],"alias_name":["spermatogenesis associated 40"],"gene_symbol":"MNS1","hgnc_symbol":"MNS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:56713742-56757335","ensembl_id":"ENSG00000138587"}},"GRch38":{"90":{"location":"15:56421544-56465137","ensembl_id":"ENSG00000138587"}}},"hgnc_date_symbol_changed":"2005-07-20"},"entity_type":"gene","entity_name":"MNS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31534215","30148830"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Heterotaxy","male infertility","Heterotaxy, visceral, 9, autosomal, with male infertility, MIM# 618948"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1516","gene_name":"catalase","omim_gene":["115500"],"alias_name":null,"gene_symbol":"CAT","hgnc_symbol":"CAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:34460472-34493609","ensembl_id":"ENSG00000121691"}},"GRch38":{"90":{"location":"11:34438925-34472062","ensembl_id":"ENSG00000121691"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24025477"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Acatalasemia MIM#614097","hypocatalasemia"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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:2084","gene_name":"caseinolytic mitochondrial matrix peptidase proteolytic subunit","omim_gene":["601119"],"alias_name":["ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human"],"gene_symbol":"CLPP","hgnc_symbol":"CLPP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:6361463-6368919","ensembl_id":"ENSG00000125656"}},"GRch38":{"90":{"location":"19:6361452-6368908","ensembl_id":"ENSG00000125656"}}},"hgnc_date_symbol_changed":"1999-09-20"},"entity_type":"gene","entity_name":"CLPP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23541340","27087618","27899912","25254289"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Perrault syndrome 3, MIM# 614129"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["IKK-gamma","NEMO","Fip3p","FIP-3","FIP3","ZC2HC9"],"biotype":null,"hgnc_id":"HGNC:5961","gene_name":"inhibitor of nuclear factor kappa B kinase subunit gamma","omim_gene":["300248"],"alias_name":null,"gene_symbol":"IKBKG","hgnc_symbol":"IKBKG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153769414-153796782","ensembl_id":"ENSG00000073009"}},"GRch38":{"90":{"location":"X:154541199-154565046","ensembl_id":"ENSG00000269335"}}},"hgnc_date_symbol_changed":"1998-09-30"},"entity_type":"gene","entity_name":"IKBKG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31874111","35289316"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["IKBKG-related immunodeficiency with or without ectodermal dysplasia MONDO:0100162","Ectodermal dysplasia and immunodeficiency 1, MIM# 300291","Immunodeficiency 33 , MIM#300636","Incontinentia pigmenti, MIM# 308300","Autoinflammatory disease, systemic, X-linked, MIM# 301081"],"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":["SV/CNV","technically challenging"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["LAS"],"biotype":"protein_coding","hgnc_id":"HGNC:16429","gene_name":"lipoic acid synthetase","omim_gene":["607031"],"alias_name":null,"gene_symbol":"LIAS","hgnc_symbol":"LIAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:39460620-39479273","ensembl_id":"ENSG00000121897"}},"GRch38":{"90":{"location":"4:39458587-39485109","ensembl_id":"ENSG00000121897"}}},"hgnc_date_symbol_changed":"2001-11-30"},"entity_type":"gene","entity_name":"LIAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22152680","24334290","26108146"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["KIAA0464","CAPON"],"biotype":"protein_coding","hgnc_id":"HGNC:16859","gene_name":"nitric oxide synthase 1 adaptor protein","omim_gene":["605551"],"alias_name":["C-terminal PDZ domain ligand of neuronal nitric oxide synthase"],"gene_symbol":"NOS1AP","hgnc_symbol":"NOS1AP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:162039564-162353321","ensembl_id":"ENSG00000198929"}},"GRch38":{"90":{"location":"1:162069774-162370475","ensembl_id":"ENSG00000198929"}}},"hgnc_date_symbol_changed":"2005-06-15"},"entity_type":"gene","entity_name":"NOS1AP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Nephrotic syndrome, type 22, MIM# 619155"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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:8858","gene_name":"peroxisomal biogenesis factor 3","omim_gene":["603164"],"alias_name":null,"gene_symbol":"PEX3","hgnc_symbol":"PEX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:143771944-143811147","ensembl_id":"ENSG00000034693"}},"GRch38":{"90":{"location":"6:143450807-143490010","ensembl_id":"ENSG00000034693"}}},"hgnc_date_symbol_changed":"1998-10-21"},"entity_type":"gene","entity_name":"PEX3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10942428","10958759","10968777","27557811","33101983"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882","Peroxisome biogenesis disorder 10B , MIM# 617370"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["PRPH1"],"biotype":"protein_coding","hgnc_id":"HGNC:9461","gene_name":"peripherin","omim_gene":["170710"],"alias_name":null,"gene_symbol":"PRPH","hgnc_symbol":"PRPH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:49687035-49692465","ensembl_id":"ENSG00000135406"}},"GRch38":{"90":{"location":"12:49293252-49298686","ensembl_id":"ENSG00000135406"}}},"hgnc_date_symbol_changed":"1992-02-27"},"entity_type":"gene","entity_name":"PRPH","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["20363051","15322088","15446584","30992453","32638105"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["{Amyotrophic lateral sclerosis, susceptibility to} MIM#105400","Hereditary motor and sensory neuropathy MONDO:0015358, PRPH-related"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["hCAP-1A","FLJ30655"],"biotype":"protein_coding","hgnc_id":"HGNC:26406","gene_name":"sodium channel and clathrin linker 1","omim_gene":["611399"],"alias_name":null,"gene_symbol":"SCLT1","hgnc_symbol":"SCLT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:129786076-130014764","ensembl_id":"ENSG00000151466"}},"GRch38":{"90":{"location":"4:128864921-129093607","ensembl_id":"ENSG00000151466"}}},"hgnc_date_symbol_changed":"2006-07-18"},"entity_type":"gene","entity_name":"SCLT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32253632","28486600","30425282","30237576","28005958","24285566"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Orofaciodigital syndrome type IX","Senior-Loken syndrome","Bardet-Biedl 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. 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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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:18130","gene_name":"synaptonemal complex protein 3","omim_gene":["604759"],"alias_name":null,"gene_symbol":"SYCP3","hgnc_symbol":"SYCP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:102122426-102133250","ensembl_id":"ENSG00000139351"}},"GRch38":{"90":{"location":"12:101728648-101739472","ensembl_id":"ENSG00000139351"}}},"hgnc_date_symbol_changed":"2002-02-05"},"entity_type":"gene","entity_name":"SYCP3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["14643120","19110213","33170803"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Spermatogenic failure 4, MIM# 270960","Pregnancy loss, recurrent, 4, MIM# 270960"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["TER","MRT14"],"biotype":"protein_coding","hgnc_id":"HGNC:4551","gene_name":"trans-2,3-enoyl-CoA reductase","omim_gene":["610057"],"alias_name":null,"gene_symbol":"TECR","hgnc_symbol":"TECR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:14627897-14676792","ensembl_id":"ENSG00000099797"}},"GRch38":{"90":{"location":"19:14517085-14565980","ensembl_id":"ENSG00000099797"}}},"hgnc_date_symbol_changed":"2009-07-21"},"entity_type":"gene","entity_name":"TECR","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21212097"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Mental retardation, autosomal recessive, MIM#614020"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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:2088","gene_name":"caseinolytic mitochondrial matrix peptidase chaperone subunit","omim_gene":["615611"],"alias_name":null,"gene_symbol":"CLPX","hgnc_symbol":"CLPX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:65440557-65477680","ensembl_id":"ENSG00000166855"}},"GRch38":{"90":{"location":"15:65148219-65185342","ensembl_id":"ENSG00000166855"}}},"hgnc_date_symbol_changed":"2000-03-14"},"entity_type":"gene","entity_name":"CLPX","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["28874591","25957689"],"evidence":["Literature"],"phenotypes":["protoporphyria, erythropoietic, 2 MONDO:0060729"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["PDSW"],"biotype":"protein_coding","hgnc_id":"HGNC:7696","gene_name":"NADH:ubiquinone oxidoreductase subunit B10","omim_gene":["603843"],"alias_name":["complex I PDSW subunit"],"gene_symbol":"NDUFB10","hgnc_symbol":"NDUFB10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:2009509-2011976","ensembl_id":"ENSG00000140990"}},"GRch38":{"90":{"location":"16:1959508-1961975","ensembl_id":"ENSG00000140990"}}},"hgnc_date_symbol_changed":"1997-12-09"},"entity_type":"gene","entity_name":"NDUFB10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28040730","32025618","33169436"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["fatal infantile lactic acidosis","cardiomyopathy","Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10826","gene_name":"SH3 domain binding protein 4","omim_gene":["605611"],"alias_name":null,"gene_symbol":"SH3BP4","hgnc_symbol":"SH3BP4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:235860617-235964358","ensembl_id":"ENSG00000130147"}},"GRch38":{"90":{"location":"2:234951973-235055714","ensembl_id":"ENSG00000130147"}}},"hgnc_date_symbol_changed":"1999-08-26"},"entity_type":"gene","entity_name":"SH3BP4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["24627108"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["Peripheral neuropathy, MONDO:0005244"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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:12691","gene_name":"ezrin","omim_gene":["123900"],"alias_name":["cytovillin 2"],"gene_symbol":"EZR","hgnc_symbol":"EZR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:159186773-159240444","ensembl_id":"ENSG00000092820"}},"GRch38":{"90":{"location":"6:158765741-158819412","ensembl_id":"ENSG00000092820"}}},"hgnc_date_symbol_changed":"2007-11-29"},"entity_type":"gene","entity_name":"EZR","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40137958"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Congenital enteropathy, MONDO:0009173"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["PMSB1","HC5"],"biotype":"protein_coding","hgnc_id":"HGNC:9537","gene_name":"proteasome subunit beta 1","omim_gene":["602017"],"alias_name":null,"gene_symbol":"PSMB1","hgnc_symbol":"PSMB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:170844205-170862429","ensembl_id":"ENSG00000008018"}},"GRch38":{"90":{"location":"6:170535117-170553341","ensembl_id":"ENSG00000008018"}}},"hgnc_date_symbol_changed":"1995-05-03"},"entity_type":"gene","entity_name":"PSMB1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32129449"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder MONDO:0700092, PSMB1-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["KIAA1365","densin-180"],"biotype":"protein_coding","hgnc_id":"HGNC:18531","gene_name":"leucine rich repeat containing 7","omim_gene":["614453"],"alias_name":null,"gene_symbol":"LRRC7","hgnc_symbol":"LRRC7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:70034081-70617628","ensembl_id":"ENSG00000033122"}},"GRch38":{"90":{"location":"1:69568398-70151945","ensembl_id":"ENSG00000033122"}}},"hgnc_date_symbol_changed":"2004-11-10"},"entity_type":"gene","entity_name":"LRRC7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39256359"],"evidence":["Expert Review Green","Literature","Other"],"phenotypes":["Intellectual developmental disorder, autosomal dominant 77, MIM# 621415"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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:4167","gene_name":"growth arrest specific 2","omim_gene":["602835"],"alias_name":null,"gene_symbol":"GAS2","hgnc_symbol":"GAS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:22647188-22834601","ensembl_id":"ENSG00000148935"}},"GRch38":{"90":{"location":"11:22625642-22813055","ensembl_id":"ENSG00000148935"}}},"hgnc_date_symbol_changed":"1997-08-28"},"entity_type":"gene","entity_name":"GAS2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33964205"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Deafness, autosomal recessive 125, MIM#620877"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5036","gene_name":"heterogeneous nuclear ribonucleoprotein D","omim_gene":["601324"],"alias_name":null,"gene_symbol":"HNRNPD","hgnc_symbol":"HNRNPD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:83273651-83295656","ensembl_id":"ENSG00000138668"}},"GRch38":{"90":{"location":"4:82352498-82374503","ensembl_id":"ENSG00000138668"}}},"hgnc_date_symbol_changed":"2008-04-18"},"entity_type":"gene","entity_name":"HNRNPD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33057194","33874999"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Complex neurodevelopmental disorder MONDO:0100038, HNRNPD-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["MRS1","UNQ2529","PX1"],"biotype":"protein_coding","hgnc_id":"HGNC:8599","gene_name":"pannexin 1","omim_gene":["608420"],"alias_name":["innexin"],"gene_symbol":"PANX1","hgnc_symbol":"PANX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:93862094-93915138","ensembl_id":"ENSG00000110218"}},"GRch38":{"90":{"location":"11:94128928-94181972","ensembl_id":"ENSG00000110218"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"PANX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["30918116","32838805","33495594"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Oocyte maturation defect 7, MIM# 618550"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:830","gene_name":"ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide","omim_gene":["102910"],"alias_name":null,"gene_symbol":"ATP5B","hgnc_symbol":"ATP5B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:57031959-57039798","ensembl_id":"ENSG00000110955"}},"GRch38":{"90":{"location":"12:56638175-56646068","ensembl_id":"ENSG00000110955"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"ATP5B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["36860166","36239646","40276935"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Dystonia 38, susceptibility to, MIM# 621502","Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["DLNB14"],"biotype":"protein_coding","hgnc_id":"HGNC:30460","gene_name":"coiled-coil domain containing 84","omim_gene":null,"alias_name":null,"gene_symbol":"CCDC84","hgnc_symbol":"CCDC84","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118868852-118886501","ensembl_id":"ENSG00000186166"}},"GRch38":{"90":{"location":"11:118998142-119015791","ensembl_id":"ENSG00000186166"}}},"hgnc_date_symbol_changed":"2006-03-13"},"entity_type":"gene","entity_name":"CCDC84","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["34009673"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Mosaic variegated aneuploidy syndrome 4 (MIM#620153)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PRSMG1","GCPL1","OSGEP1","KAE1","TCS3"],"biotype":"protein_coding","hgnc_id":"HGNC:18028","gene_name":"O-sialoglycoprotein endopeptidase","omim_gene":["610107"],"alias_name":null,"gene_symbol":"OSGEP","hgnc_symbol":"OSGEP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:20914570-20923264","ensembl_id":"ENSG00000092094"}},"GRch38":{"90":{"location":"14:20446411-20455105","ensembl_id":"ENSG00000092094"}}},"hgnc_date_symbol_changed":"2002-01-23"},"entity_type":"gene","entity_name":"OSGEP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28805828","28272532"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Galloway-Mowat syndrome 3, MIM# 617729"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MU-ARP2","MU-4","SPG50"],"biotype":"protein_coding","hgnc_id":"HGNC:574","gene_name":"adaptor related protein complex 4 mu 1 subunit","omim_gene":["602296"],"alias_name":["mu-adaptin-related protein-2","mu subunit of AP-4","AP-4 adapter complex mu subunit","adaptor-related protein complex AP-4 mu4 subunit"],"gene_symbol":"AP4M1","hgnc_symbol":"AP4M1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:99699172-99707968","ensembl_id":"ENSG00000221838"}},"GRch38":{"90":{"location":"7:100101549-100110345","ensembl_id":"ENSG00000221838"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP4M1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28464862","24700674"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Spastic paraplegia 50, autosomal recessive (MIM#612936)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["L2","hSGT2","hSgt2p","SGT2"],"biotype":"protein_coding","hgnc_id":"HGNC:9249","gene_name":"PPFIA binding protein 1","omim_gene":["603141"],"alias_name":["liprin beta 1"],"gene_symbol":"PPFIBP1","hgnc_symbol":"PPFIBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:27676364-27848497","ensembl_id":"ENSG00000110841"}},"GRch38":{"90":{"location":"12:27523431-27695564","ensembl_id":"ENSG00000110841"}}},"hgnc_date_symbol_changed":"1998-10-23"},"entity_type":"gene","entity_name":"PPFIBP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35830857"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ32731","HGNAT"],"biotype":"protein_coding","hgnc_id":"HGNC:26527","gene_name":"heparan-alpha-glucosaminide N-acetyltransferase","omim_gene":["610453"],"alias_name":null,"gene_symbol":"HGSNAT","hgnc_symbol":"HGSNAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:42995556-43057998","ensembl_id":"ENSG00000165102"}},"GRch38":{"90":{"location":"8:43140455-43202855","ensembl_id":"ENSG00000165102"}}},"hgnc_date_symbol_changed":"2006-08-16"},"entity_type":"gene","entity_name":"HGSNAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17033958","25859010","19479962","31228227","20825431","20583299"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930","MONDO:0009657","Retinitis pigmentosa 73, MIM# 616544","MONDO:0014687"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":181,"hash_id":null,"name":"Lysosomal Storage Disorder","disease_group":"Metabolic conditions","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe lysosomal storage diseases are a group of progressive metabolic disorders that are caused by enzyme deficiencies within the lysosome. The abnormal storage process leads to a broad spectrum of somatic and/or neurological clinical manifestations depending on the specific substrate and site of accumulation. Examples include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses.\r\n\r\nIf the clinical presentation is not specific for a lysosomal storage disorder, please consider the broader Metabolic Disorders Superpanel.","status":"public","version":"1.31","version_created":"2026-03-31T16:05:25.488597+11:00","relevant_disorders":["Lysosomal storage disorder","MONDO:0002561; Visceromegaly","HP:0003271"],"stats":{"number_of_genes":80,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ30508","MGC23909"],"biotype":"protein_coding","hgnc_id":"HGNC:28330","gene_name":"transmembrane protein 167A","omim_gene":null,"alias_name":null,"gene_symbol":"TMEM167A","hgnc_symbol":"TMEM167A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:82348665-82373682","ensembl_id":"ENSG00000174695"}},"GRch38":{"90":{"location":"5:83052846-83077863","ensembl_id":"ENSG00000174695"}}},"hgnc_date_symbol_changed":"2008-06-06"},"entity_type":"gene","entity_name":"TMEM167A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 40924476"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Microcephaly, epilepsy, and diabetes syndrome MONDO:0100328, TMEM167A-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","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":["NY-REN-45"],"biotype":"protein_coding","hgnc_id":"HGNC:21305","gene_name":"potassium channel tetramerization domain containing 3","omim_gene":["613272"],"alias_name":null,"gene_symbol":"KCTD3","hgnc_symbol":"KCTD3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:215740735-215795149","ensembl_id":"ENSG00000136636"}},"GRch38":{"90":{"location":"1:215567392-215621807","ensembl_id":"ENSG00000136636"}}},"hgnc_date_symbol_changed":"2003-06-03"},"entity_type":"gene","entity_name":"KCTD3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29406573"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Neurodevelopmental disorder MONDO:0700092, KCTD3-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["humS6PKh1"],"biotype":"protein_coding","hgnc_id":"HGNC:10439","gene_name":"ribosomal protein S6 kinase C1","omim_gene":["617517"],"alias_name":null,"gene_symbol":"RPS6KC1","hgnc_symbol":"RPS6KC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:213224589-213448116","ensembl_id":"ENSG00000136643"}},"GRch38":{"90":{"location":"1:213051233-213274773","ensembl_id":"ENSG00000136643"}}},"hgnc_date_symbol_changed":"1999-12-14"},"entity_type":"gene","entity_name":"RPS6KC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["41130203"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:14630","gene_name":"cysteine rich with EGF like domains 1","omim_gene":["607170"],"alias_name":null,"gene_symbol":"CRELD1","hgnc_symbol":"CRELD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:9975506-9987097","ensembl_id":"ENSG00000163703"}},"GRch38":{"90":{"location":"3:9933822-9945413","ensembl_id":"ENSG00000163703"}}},"hgnc_date_symbol_changed":"2001-02-16"},"entity_type":"gene","entity_name":"CRELD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37947183"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","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":["G-ALPHA-o"],"biotype":"protein_coding","hgnc_id":"HGNC:4389","gene_name":"G protein subunit alpha o1","omim_gene":["139311"],"alias_name":null,"gene_symbol":"GNAO1","hgnc_symbol":"GNAO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:56225302-56391356","ensembl_id":"ENSG00000087258"}},"GRch38":{"90":{"location":"16:56191347-56357457","ensembl_id":"ENSG00000087258"}}},"hgnc_date_symbol_changed":"1988-04-24"},"entity_type":"gene","entity_name":"GNAO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28747448","30682224"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Epileptic encephalopathy, early infantile, 17","Neurodevelopmental disorder with involuntary movements"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PDC-E2"],"biotype":"protein_coding","hgnc_id":"HGNC:2896","gene_name":"dihydrolipoamide S-acetyltransferase","omim_gene":["608770"],"alias_name":["E2 component of pyruvate dehydrogenase complex"],"gene_symbol":"DLAT","hgnc_symbol":"DLAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:111895538-111935114","ensembl_id":"ENSG00000150768"}},"GRch38":{"90":{"location":"11:112024814-112064390","ensembl_id":"ENSG00000150768"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"DLAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34138529"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Pyruvate dehydrogenase E2 deficiency MIM#245348"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HK2"],"biotype":"protein_coding","hgnc_id":"HGNC:6318","gene_name":"kinesin family member 2A","omim_gene":["602591"],"alias_name":null,"gene_symbol":"KIF2A","hgnc_symbol":"KIF2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:61601989-61833076","ensembl_id":"ENSG00000068796"}},"GRch38":{"90":{"location":"5:62306162-62537249","ensembl_id":"ENSG00000068796"}}},"hgnc_date_symbol_changed":"2006-09-26"},"entity_type":"gene","entity_name":"KIF2A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23603762","27896282","27747449","29077851","31919497"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ11712"],"biotype":"protein_coding","hgnc_id":"HGNC:25671","gene_name":"ribonuclease H2 subunit B","omim_gene":["610326"],"alias_name":null,"gene_symbol":"RNASEH2B","hgnc_symbol":"RNASEH2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:51483814-51544592","ensembl_id":"ENSG00000136104"}},"GRch38":{"90":{"location":"13:50909678-50973745","ensembl_id":"ENSG00000136104"}}},"hgnc_date_symbol_changed":"2006-08-17"},"entity_type":"gene","entity_name":"RNASEH2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CATSF","CLN13"],"biotype":"protein_coding","hgnc_id":"HGNC:2531","gene_name":"cathepsin F","omim_gene":["603539"],"alias_name":null,"gene_symbol":"CTSF","hgnc_symbol":"CTSF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:66330934-66336312","ensembl_id":"ENSG00000174080"}},"GRch38":{"90":{"location":"11:66563463-66568841","ensembl_id":"ENSG00000174080"}}},"hgnc_date_symbol_changed":"1998-12-17"},"entity_type":"gene","entity_name":"CTSF","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":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1005","CORS3","JBTS7","MKS5","NPHP8","FTM","PPP1R134"],"biotype":"protein_coding","hgnc_id":"HGNC:29168","gene_name":"RPGRIP1 like","omim_gene":["610937"],"alias_name":["fantom homolog","Meckel syndrome, type 5","protein phosphatase 1, regulatory subunit 134"],"gene_symbol":"RPGRIP1L","hgnc_symbol":"RPGRIP1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:53631595-53737850","ensembl_id":"ENSG00000103494"}},"GRch38":{"90":{"location":"16:53597683-53703938","ensembl_id":"ENSG00000103494"}}},"hgnc_date_symbol_changed":"2007-05-14"},"entity_type":"gene","entity_name":"RPGRIP1L","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":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FREAC2"],"biotype":"protein_coding","hgnc_id":"HGNC:3810","gene_name":"forkhead box F2","omim_gene":["603250"],"alias_name":null,"gene_symbol":"FOXF2","hgnc_symbol":"FOXF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:1390069-1395832","ensembl_id":"ENSG00000137273"}},"GRch38":{"90":{"location":"6:1389834-1395597","ensembl_id":"ENSG00000137273"}}},"hgnc_date_symbol_changed":"1995-06-05"},"entity_type":"gene","entity_name":"FOXF2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["30561639","22022403"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["profound sensorineural hearing loss (SNHL)","cochlea malformations","incomplete partition type I anomaly of the cochlea"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1245","gene_name":"complement C1q C chain","omim_gene":["120575"],"alias_name":null,"gene_symbol":"C1QC","hgnc_symbol":"C1QC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:22970123-22974603","ensembl_id":"ENSG00000159189"}},"GRch38":{"90":{"location":"1:22643630-22648110","ensembl_id":"ENSG00000159189"}}},"hgnc_date_symbol_changed":"2006-02-09"},"entity_type":"gene","entity_name":"C1QC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21654842","8630118","24157463"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["C1q deficiency MIM#613652"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":224,"hash_id":null,"name":"Complement Deficiencies","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains all the genes that are associated with complement deficiencies.\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.2","version_created":"2025-10-30T13:50:05.331358+11:00","relevant_disorders":["Abnormality of complement system","HP:0005339"],"stats":{"number_of_genes":34,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MORT1","GIG3"],"biotype":"protein_coding","hgnc_id":"HGNC:3573","gene_name":"Fas associated via death domain","omim_gene":["602457"],"alias_name":["Fas-associating protein with death domain","Fas-associating death domain-containing protein","mediator of receptor-induced toxicity","growth-inhibiting gene 3 protein"],"gene_symbol":"FADD","hgnc_symbol":"FADD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:70049269-70053496","ensembl_id":"ENSG00000168040"}},"GRch38":{"90":{"location":"11:70203163-70207390","ensembl_id":"ENSG00000168040"}}},"hgnc_date_symbol_changed":"1999-05-07"},"entity_type":"gene","entity_name":"FADD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21109225","25794656","32350755","32971525"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["FADD-related immunodeficiency MONDO:0013408"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.43","version_created":"2026-04-06T13:01:39.255117+10:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":118,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["PMID: 30234181"],"evidence":["Literature","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":["umccr"],"panel":{"id":242,"hash_id":null,"name":"Homologous_recombination_deficiency_WTS_UMCCR","disease_group":"Cancer","disease_sub_group":"","description":"Author: Jacek Marzec, jacek.marzec@unimelb.edu.au\r\n\r\nPurpose: panel of genes involved in homologous recombination DNA damage repair (HR-DDR) deficiency in various cancer types. This set of genes is used in UMCCR WTS report \"HRD genes\" section\r\n\r\nSource: -\r\n\r\nGithub: https://github.com/umccr/RNAsum","status":"public","version":"0.45","version_created":"2025-11-03T15:31:09.278966+11:00","relevant_disorders":[],"stats":{"number_of_genes":36,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10597"],"biotype":"protein_coding","hgnc_id":"HGNC:25552","gene_name":"ring finger protein 220","omim_gene":["616136"],"alias_name":null,"gene_symbol":"RNF220","hgnc_symbol":"RNF220","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:44870866-45117396","ensembl_id":"ENSG00000187147"}},"GRch38":{"90":{"location":"1:44405194-44651724","ensembl_id":"ENSG00000187147"}}},"hgnc_date_symbol_changed":"2008-06-13"},"entity_type":"gene","entity_name":"RNF220","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["33964137","10881263"],"evidence":["Expert Review Green","Other","Literature"],"phenotypes":["Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688","Leukodystrophy","CNS hypomyelination","Ataxia","Intellectual disability","Sensorineural hearing impairment","Elevated hepatic transaminases","Hepatic fibrosis","Dilated cardiomyopathy","Spastic paraplegia","Dysarthria","Abnormality of the corpus callosum"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FPP","PFM","KIAA1788"],"biotype":"protein_coding","hgnc_id":"HGNC:450","gene_name":"ALX homeobox 4","omim_gene":["605420"],"alias_name":null,"gene_symbol":"ALX4","hgnc_symbol":"ALX4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:44281994-44331716","ensembl_id":"ENSG00000052850"}},"GRch38":{"90":{"location":"11:44260444-44310166","ensembl_id":"ENSG00000052850"}}},"hgnc_date_symbol_changed":"2000-06-15"},"entity_type":"gene","entity_name":"ALX4","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["19409524"],"evidence":["Expert Review Amber","Genetic Health Queensland"],"phenotypes":["Frontonasal dysplasia 2, MIM# 613451"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PURH","AICARFT","IMPCHASE"],"biotype":"protein_coding","hgnc_id":"HGNC:794","gene_name":"5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase","omim_gene":["601731"],"alias_name":["phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"],"gene_symbol":"ATIC","hgnc_symbol":"ATIC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:216176540-216214487","ensembl_id":"ENSG00000138363"}},"GRch38":{"90":{"location":"2:215311817-215349773","ensembl_id":"ENSG00000138363"}}},"hgnc_date_symbol_changed":"1997-05-15"},"entity_type":"gene","entity_name":"ATIC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15114530","32557644"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["AICA-ribosiduria due to ATIC deficiency, MIM# 608688"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CEMCOX2"],"biotype":"protein_coding","hgnc_id":"HGNC:2263","gene_name":"COX15, cytochrome c oxidase assembly homolog","omim_gene":["603646"],"alias_name":null,"gene_symbol":"COX15","hgnc_symbol":"COX15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:101471601-101491857","ensembl_id":"ENSG00000014919"}},"GRch38":{"90":{"location":"10:99711844-99732100","ensembl_id":"ENSG00000014919"}}},"hgnc_date_symbol_changed":"1998-07-03"},"entity_type":"gene","entity_name":"COX15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33746038","32232962","26959537","21412973","12474143","15235026"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NICE-4","KIAA0144"],"biotype":"protein_coding","hgnc_id":"HGNC:29877","gene_name":"ubiquitin associated protein 2 like","omim_gene":["616472"],"alias_name":null,"gene_symbol":"UBAP2L","hgnc_symbol":"UBAP2L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:154192655-154243986","ensembl_id":"ENSG00000143569"}},"GRch38":{"90":{"location":"1:154220179-154271510","ensembl_id":"ENSG00000143569"}}},"hgnc_date_symbol_changed":"2004-09-14"},"entity_type":"gene","entity_name":"UBAP2L","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["35977029"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494","Delayed speech and language development","Motor delay","Intellectual disability","Autistic behavior","Seizures","Microcephaly","Abnormality of head or neck","Short stature","Abnormality of the skeletal system"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TRANCE","RANKL","OPGL","ODF","CD254"],"biotype":"protein_coding","hgnc_id":"HGNC:11926","gene_name":"TNF superfamily member 11","omim_gene":["602642"],"alias_name":null,"gene_symbol":"TNFSF11","hgnc_symbol":"TNFSF11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:43136872-43182149","ensembl_id":"ENSG00000120659"}},"GRch38":{"90":{"location":"13:42562736-42608013","ensembl_id":"ENSG00000120659"}}},"hgnc_date_symbol_changed":"1998-12-04"},"entity_type":"gene","entity_name":"TNFSF11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","UKGTN","Radboud University Medical Center, Nijmegen","Expert Review Green","NHS GMS","Expert list","Emory Genetics Laboratory","Victorian Clinical Genetics Services"],"phenotypes":["Osteopetrosis, autosomal recessive 2 259710"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DPC4"],"biotype":"protein_coding","hgnc_id":"HGNC:6770","gene_name":"SMAD family member 4","omim_gene":["600993"],"alias_name":null,"gene_symbol":"SMAD4","hgnc_symbol":"SMAD4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:48494410-48611415","ensembl_id":"ENSG00000141646"}},"GRch38":{"90":{"location":"18:51028394-51085045","ensembl_id":"ENSG00000141646"}}},"hgnc_date_symbol_changed":"2004-05-26"},"entity_type":"gene","entity_name":"SMAD4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16613914"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":260,"hash_id":null,"name":"Hereditary Haemorrhagic Telangiectasia","disease_group":"Vascular disorders","disease_sub_group":"","description":"This panel was developed for use in cases with a clinical diagnosis of hereditary haemorrhagic telangiectasia. It is maintained by Royal Melbourne Hospital. It is a consensus panel used by VCGS.","status":"public","version":"1.6","version_created":"2026-04-06T11:40:33.000186+10:00","relevant_disorders":["Telangiectasia","HP:0001009"],"stats":{"number_of_genes":7,"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":["DKFZp761N0624"],"biotype":"protein_coding","hgnc_id":"HGNC:20651","gene_name":"solute carrier family 37 member 3","omim_gene":null,"alias_name":null,"gene_symbol":"SLC37A3","hgnc_symbol":"SLC37A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:139993493-140104233","ensembl_id":"ENSG00000157800"}},"GRch38":{"90":{"location":"7:140293693-140404433","ensembl_id":"ENSG00000157800"}}},"hgnc_date_symbol_changed":"2003-03-14"},"entity_type":"gene","entity_name":"SLC37A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28041643","35486108"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Retinitis pigmentosa, MONDO:0019200, SLC37A3-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":277,"hash_id":null,"name":"Retinitis pigmentosa","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.","status":"public","version":"0.245","version_created":"2026-03-28T13:33:23.781842+11:00","relevant_disorders":["Abnormal retinal morphology","HP:0000479"],"stats":{"number_of_genes":159,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11822","gene_name":"TIMP metallopeptidase inhibitor 3","omim_gene":["188826"],"alias_name":null,"gene_symbol":"TIMP3","hgnc_symbol":"TIMP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:33197687-33259030","ensembl_id":"ENSG00000100234"}},"GRch38":{"90":{"location":"22:32801701-32863043","ensembl_id":"ENSG00000100234"}}},"hgnc_date_symbol_changed":"1993-04-12"},"entity_type":"gene","entity_name":"TIMP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7894485","10854443","32715858","32666594","31757977","31369189","30668888"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Sorsby fundus dystrophy, MIM# 136900"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":303,"hash_id":null,"name":"Macular Dystrophy/Stargardt Disease","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.","status":"public","version":"0.60","version_created":"2026-03-31T16:05:02.510211+11:00","relevant_disorders":["Macular dystrophy","HP:0007754"],"stats":{"number_of_genes":39,"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":["SPG63"],"biotype":"protein_coding","hgnc_id":"HGNC:469","gene_name":"adenosine monophosphate deaminase 2","omim_gene":["102771"],"alias_name":["AMPD isoform L"],"gene_symbol":"AMPD2","hgnc_symbol":"AMPD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:110158726-110174673","ensembl_id":"ENSG00000116337"}},"GRch38":{"90":{"location":"1:109616104-109632051","ensembl_id":"ENSG00000116337"}}},"hgnc_date_symbol_changed":"1990-03-06"},"entity_type":"gene","entity_name":"AMPD2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24482476","30089829","29463858"],"evidence":["Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Spastic paraplegia 63 MIM#615686"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CPTASE"],"biotype":"protein_coding","hgnc_id":"HGNC:2330","gene_name":"carnitine palmitoyltransferase 2","omim_gene":["600650"],"alias_name":null,"gene_symbol":"CPT2","hgnc_symbol":"CPT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:53662101-53679869","ensembl_id":"ENSG00000157184"}},"GRch38":{"90":{"location":"1:53196429-53214197","ensembl_id":"ENSG00000157184"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"CPT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["CPT II deficiency, lethal neonatal, 608836 (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":["NMNAT","PNAT1"],"biotype":"protein_coding","hgnc_id":"HGNC:17877","gene_name":"nicotinamide nucleotide adenylyltransferase 1","omim_gene":["608700"],"alias_name":null,"gene_symbol":"NMNAT1","hgnc_symbol":"NMNAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:10003486-10045559","ensembl_id":"ENSG00000173614"}},"GRch38":{"90":{"location":"1:9943428-9985501","ensembl_id":"ENSG00000173614"}}},"hgnc_date_symbol_changed":"2003-05-02"},"entity_type":"gene","entity_name":"NMNAT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leber congenital amaurosis 9, 608553 (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:14244","gene_name":"RAB18, member RAS oncogene family","omim_gene":["602207"],"alias_name":null,"gene_symbol":"RAB18","hgnc_symbol":"RAB18","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:27793197-27831143","ensembl_id":"ENSG00000099246"}},"GRch38":{"90":{"location":"10:27504174-27542237","ensembl_id":"ENSG00000099246"}}},"hgnc_date_symbol_changed":"2000-12-12"},"entity_type":"gene","entity_name":"RAB18","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Warburg micro syndrome 3, 614222 (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":["JAM-C","JAMC"],"biotype":"protein_coding","hgnc_id":"HGNC:15532","gene_name":"junctional adhesion molecule 3","omim_gene":["606871"],"alias_name":null,"gene_symbol":"JAM3","hgnc_symbol":"JAM3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:133938820-134021896","ensembl_id":"ENSG00000166086"}},"GRch38":{"90":{"location":"11:134068925-134152001","ensembl_id":"ENSG00000166086"}}},"hgnc_date_symbol_changed":"2001-04-26"},"entity_type":"gene","entity_name":"JAM3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23255084","21109224"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3141,"hash_id":null,"name":"Stroke","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.","status":"public","version":"1.48","version_created":"2026-03-31T17:20:59.161732+11:00","relevant_disorders":["Stroke","HP:0001297"],"stats":{"number_of_genes":75,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1093","gene_name":"bisphosphoglycerate mutase","omim_gene":["613896"],"alias_name":null,"gene_symbol":"BPGM","hgnc_symbol":"BPGM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:134331560-134364565","ensembl_id":"ENSG00000172331"}},"GRch38":{"90":{"location":"7:134646808-134679813","ensembl_id":"ENSG00000172331"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"BPGM","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Erythrocytosis due to bisphosphoglycerate mutase deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ARSACS","KIAA0730","DKFZp686B15167","DNAJC29","SPAX6","PPP1R138"],"biotype":"protein_coding","hgnc_id":"HGNC:10519","gene_name":"sacsin molecular chaperone","omim_gene":["604490"],"alias_name":["protein phosphatase 1, regulatory subunit 138"],"gene_symbol":"SACS","hgnc_symbol":"SACS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:23902965-24007841","ensembl_id":"ENSG00000151835"}},"GRch38":{"90":{"location":"13:23328826-23411513","ensembl_id":"ENSG00000151835"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"SACS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Spastic ataxia Charlevoix-Saguenay type"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7897","gene_name":"NPC intracellular cholesterol transporter 1","omim_gene":["607623"],"alias_name":null,"gene_symbol":"NPC1","hgnc_symbol":"NPC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:21086148-21166862","ensembl_id":"ENSG00000141458"}},"GRch38":{"90":{"location":"18:23506184-23586898","ensembl_id":"ENSG00000141458"}}},"hgnc_date_symbol_changed":"1993-04-13"},"entity_type":"gene","entity_name":"NPC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Niemann-Pick disease type C1"],"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":["AIS","NR3C4","SMAX1","HUMARA"],"biotype":"protein_coding","hgnc_id":"HGNC:644","gene_name":"androgen receptor","omim_gene":["313700"],"alias_name":["testicular feminization","Kennedy disease"],"gene_symbol":"AR","hgnc_symbol":"AR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:66764465-66950461","ensembl_id":"ENSG00000169083"}},"GRch38":{"90":{"location":"X:67544032-67730619","ensembl_id":"ENSG00000169083"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"AR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene","BabySeq Category A gene"],"phenotypes":["Androgen insensitivity, MIM# 300068"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["VHL1"],"biotype":"protein_coding","hgnc_id":"HGNC:12687","gene_name":"von Hippel-Lindau tumor suppressor","omim_gene":["608537"],"alias_name":null,"gene_symbol":"VHL","hgnc_symbol":"VHL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:10182692-10193904","ensembl_id":"ENSG00000134086"}},"GRch38":{"90":{"location":"3:10141008-10152220","ensembl_id":"ENSG00000134086"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"VHL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["12844285","21454469","24729484","23403324"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Erythrocytosis, familial, 2, MIM#\t263400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3366,"hash_id":null,"name":"Red cell disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.","status":"public","version":"1.52","version_created":"2026-03-28T15:18:36.006857+11:00","relevant_disorders":["Abnormal erythrocyte morphology","HP:0001877"],"stats":{"number_of_genes":116,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SIGMA1B"],"biotype":"protein_coding","hgnc_id":"HGNC:560","gene_name":"adaptor related protein complex 1 sigma 2 subunit","omim_gene":["300629"],"alias_name":null,"gene_symbol":"AP1S2","hgnc_symbol":"AP1S2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:15843929-15873054","ensembl_id":"ENSG00000182287"}},"GRch38":{"90":{"location":"X:15825806-15854931","ensembl_id":"ENSG00000182287"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP1S2","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["23756445"],"evidence":["Expert Review Amber","Literature","Expert list"],"phenotypes":["Pettigrew syndrome, MIM# 304340"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3438,"hash_id":null,"name":"Neurodegeneration with brain iron accumulation","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that are associated with neurodegeneration with brain iron accumulation (NBIA) disorders. Depending on the clinical features present, consider applying additional panels such as the Dystonia Superpanel or Mitochondrial Disorders, which contain overlapping differential diagnoses.","status":"public","version":"1.3","version_created":"2025-11-25T11:21:32.539811+11:00","relevant_disorders":["Iron accumulation in brain","HP:0012675"],"stats":{"number_of_genes":24,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4266","gene_name":"growth hormone releasing hormone receptor","omim_gene":["139191"],"alias_name":null,"gene_symbol":"GHRHR","hgnc_symbol":"GHRHR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:30978284-31032869","ensembl_id":"ENSG00000106128"}},"GRch38":{"90":{"location":"7:30938669-30993254","ensembl_id":"ENSG00000106128"}}},"hgnc_date_symbol_changed":"1993-06-22"},"entity_type":"gene","entity_name":"GHRHR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8528260","10084571","11232012"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Growth hormone deficiency, isolated, type IV, MIM# 618157"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SLB","wim","osm-1","NPHP17","BBS20"],"biotype":"protein_coding","hgnc_id":"HGNC:30391","gene_name":"intraflagellar transport 172","omim_gene":["607386"],"alias_name":["wimple homolog"],"gene_symbol":"IFT172","hgnc_symbol":"IFT172","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:27667238-27712656","ensembl_id":"ENSG00000138002"}},"GRch38":{"90":{"location":"2:27444371-27489789","ensembl_id":"ENSG00000138002"}}},"hgnc_date_symbol_changed":"2005-11-02"},"entity_type":"gene","entity_name":"IFT172","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["25664603"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["GH deficiency, retinopathy, metaphyseal dysplasia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10640","KIAA1933"],"biotype":"protein_coding","hgnc_id":"HGNC:25557","gene_name":"protein arginine methyltransferase 7","omim_gene":["610087"],"alias_name":null,"gene_symbol":"PRMT7","hgnc_symbol":"PRMT7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:68344877-68392466","ensembl_id":"ENSG00000132600"}},"GRch38":{"90":{"location":"16:68310974-68358563","ensembl_id":"ENSG00000132600"}}},"hgnc_date_symbol_changed":"2006-02-16"},"entity_type":"gene","entity_name":"PRMT7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green"],"phenotypes":["Short stature, brachydactyly, intellectual developmental disability, and seizures 617157"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["KIAA0625","AOA2","Sen1"],"biotype":"protein_coding","hgnc_id":"HGNC:445","gene_name":"senataxin","omim_gene":["608465"],"alias_name":null,"gene_symbol":"SETX","hgnc_symbol":"SETX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:135136743-135230372","ensembl_id":"ENSG00000107290"}},"GRch38":{"90":{"location":"9:132261356-132354985","ensembl_id":"ENSG00000107290"}}},"hgnc_date_symbol_changed":"2005-11-29"},"entity_type":"gene","entity_name":"SETX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","NHS Genomic Medicine Service"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, MIM# 606002"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3762,"hash_id":null,"name":"Congenital nystagmus","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with isolated or syndromic nystagmus presenting in infancy or early childhood.","status":"public","version":"1.24","version_created":"2026-01-26T13:26:36.043723+11:00","relevant_disorders":["Nystagmus HP:0000639"],"stats":{"number_of_genes":84,"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":["DNC","MUP1","TPC"],"biotype":"protein_coding","hgnc_id":"HGNC:14409","gene_name":"solute carrier family 25 member 19","omim_gene":["606521"],"alias_name":null,"gene_symbol":"SLC25A19","hgnc_symbol":"SLC25A19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:73269073-73285591","ensembl_id":"ENSG00000125454"}},"GRch38":{"90":{"location":"17:75272981-75289510","ensembl_id":"ENSG00000125454"}}},"hgnc_date_symbol_changed":"2001-09-27"},"entity_type":"gene","entity_name":"SLC25A19","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31506564","31295743","12185364","19798730"],"evidence":["Expert Review Red","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Microcephaly, Amish type, OMIM:607196","Amish lethal microcephaly, MONDO:0011790"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RAIDD"],"biotype":"protein_coding","hgnc_id":"HGNC:2340","gene_name":"CASP2 and RIPK1 domain containing adaptor with death domain","omim_gene":["603454"],"alias_name":["RIP-associated ICH1/CED3-homologous protein with death domain"],"gene_symbol":"CRADD","hgnc_symbol":"CRADD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:94071151-94288616","ensembl_id":"ENSG00000169372"}},"GRch38":{"90":{"location":"12:93677375-93894840","ensembl_id":"ENSG00000169372"}}},"hgnc_date_symbol_changed":"1999-05-07"},"entity_type":"gene","entity_name":"CRADD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27773430"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["YAP65"],"biotype":"protein_coding","hgnc_id":"HGNC:16262","gene_name":"Yes associated protein 1","omim_gene":["606608"],"alias_name":null,"gene_symbol":"YAP1","hgnc_symbol":"YAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:101981192-102104154","ensembl_id":"ENSG00000137693"}},"GRch38":{"90":{"location":"11:102110461-102233423","ensembl_id":"ENSG00000137693"}}},"hgnc_date_symbol_changed":"2001-07-17"},"entity_type":"gene","entity_name":"YAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24462371","27267789","28801591"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PI4K-ALPHA","pi4K230"],"biotype":"protein_coding","hgnc_id":"HGNC:8983","gene_name":"phosphatidylinositol 4-kinase alpha","omim_gene":["600286"],"alias_name":null,"gene_symbol":"PI4KA","hgnc_symbol":"PI4KA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:21061979-21213705","ensembl_id":"ENSG00000241973"}},"GRch38":{"90":{"location":"22:20707691-20859417","ensembl_id":"ENSG00000241973"}}},"hgnc_date_symbol_changed":"2007-08-02"},"entity_type":"gene","entity_name":"PI4KA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34415310"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MIM#616531","Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["hCaf1z"],"biotype":"protein_coding","hgnc_id":"HGNC:15954","gene_name":"target of EGR1, exonuclease","omim_gene":["613931"],"alias_name":null,"gene_symbol":"TOE1","hgnc_symbol":"TOE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45805342-45809647","ensembl_id":"ENSG00000132773"}},"GRch38":{"90":{"location":"1:45339670-45343975","ensembl_id":"ENSG00000132773"}}},"hgnc_date_symbol_changed":"2001-08-24"},"entity_type":"gene","entity_name":"TOE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28092684","36738896"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Pontocerebellar hypoplasia, type 7 MIM#614969"],"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":["LCA14"],"biotype":"protein_coding","hgnc_id":"HGNC:6685","gene_name":"lecithin retinol acyltransferase","omim_gene":["604863"],"alias_name":["phosphatidylcholine--retinol O-acyltransferase"],"gene_symbol":"LRAT","hgnc_symbol":"LRAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:155548097-155674270","ensembl_id":"ENSG00000121207"}},"GRch38":{"90":{"location":"4:154626945-154753118","ensembl_id":"ENSG00000121207"}}},"hgnc_date_symbol_changed":"1999-02-16"},"entity_type":"gene","entity_name":"LRAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11381255","18055821","22570351","29973277","24625443","31448181"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Retinal dystrophy, early-onset severe","Leber congenital amaurosis 14","Retinitis pigmentosa, juvenile, all under MIM #613341"],"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":["KIAA0986"],"biotype":"protein_coding","hgnc_id":"HGNC:1908","gene_name":"vacuolar protein sorting 13 homolog A","omim_gene":["605978"],"alias_name":["chorein"],"gene_symbol":"VPS13A","hgnc_symbol":"VPS13A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:79792269-80036457","ensembl_id":"ENSG00000197969"}},"GRch38":{"90":{"location":"9:77177353-77421541","ensembl_id":"ENSG00000197969"}}},"hgnc_date_symbol_changed":"2004-02-11"},"entity_type":"gene","entity_name":"VPS13A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29518281","28446873"],"evidence":["Expert Review Red","Mackenzie's Mission"],"phenotypes":["Choreoacanthocytosis, 200150 (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":["FLJ14466","CRACM1"],"biotype":null,"hgnc_id":"HGNC:25896","gene_name":"ORAI calcium release-activated calcium modulator 1","omim_gene":["610277"],"alias_name":["calcium release-activated calcium modulator 1"],"gene_symbol":"ORAI1","hgnc_symbol":"ORAI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:122064455-122080583","ensembl_id":"ENSG00000182500"}},"GRch38":{"90":{"location":"12:121626550-121642677","ensembl_id":"ENSG00000276045"}}},"hgnc_date_symbol_changed":"2007-08-14"},"entity_type":"gene","entity_name":"ORAI1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31448844","38982518"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Immunodeficiency 9, MIM#612782"],"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":["CHS"],"biotype":"protein_coding","hgnc_id":"HGNC:1968","gene_name":"lysosomal trafficking regulator","omim_gene":["606897"],"alias_name":null,"gene_symbol":"LYST","hgnc_symbol":"LYST","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:235824341-236046940","ensembl_id":"ENSG00000143669"}},"GRch38":{"90":{"location":"1:235661041-235883640","ensembl_id":"ENSG00000143669"}}},"hgnc_date_symbol_changed":"2004-12-10"},"entity_type":"gene","entity_name":"LYST","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Chediak-Higashi syndrome, MIM#214500"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological"],"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":["GS3","DNAJA5","JJJ1"],"biotype":"protein_coding","hgnc_id":"HGNC:27030","gene_name":"DnaJ heat shock protein family (Hsp40) member C21","omim_gene":["617048"],"alias_name":["JJJ1 DnaJ domain protein homolog (S. cerevisiae)"],"gene_symbol":"DNAJC21","hgnc_symbol":"DNAJC21","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:34929698-34959069","ensembl_id":"ENSG00000168724"}},"GRch38":{"90":{"location":"5:34929593-34958964","ensembl_id":"ENSG00000168724"}}},"hgnc_date_symbol_changed":"2007-11-19"},"entity_type":"gene","entity_name":"DNAJC21","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29700810","28062395","27346687"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Bone marrow failure syndrome 3, MIM#\t617052"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10535","gene_name":"secretion associated Ras related GTPase 1B","omim_gene":["607690"],"alias_name":null,"gene_symbol":"SAR1B","hgnc_symbol":"SAR1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:133936834-133984961","ensembl_id":"ENSG00000152700"}},"GRch38":{"90":{"location":"5:134601144-134649271","ensembl_id":"ENSG00000152700"}}},"hgnc_date_symbol_changed":"2005-10-21"},"entity_type":"gene","entity_name":"SAR1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Chylomicron retention disease, MIM# 246700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","gastrointestinal"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1122","gene_name":"biotinidase","omim_gene":["609019"],"alias_name":null,"gene_symbol":"BTD","hgnc_symbol":"BTD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:15642848-15687329","ensembl_id":"ENSG00000169814"}},"GRch38":{"90":{"location":"3:15601341-15645822","ensembl_id":"ENSG00000169814"}}},"hgnc_date_symbol_changed":"1994-03-30"},"entity_type":"gene","entity_name":"BTD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Biotinidase deficiency, MIM#253260"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["THRB1","THRB2","NR1A2","THR1","ERBA-BETA","GRTH"],"biotype":"protein_coding","hgnc_id":"HGNC:11799","gene_name":"thyroid hormone receptor beta","omim_gene":["190160"],"alias_name":["avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2","oncogene ERBA2","generalized resistance to thyroid hormone","thyroid hormone receptor beta 1"],"gene_symbol":"THRB","hgnc_symbol":"THRB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:24158651-24536773","ensembl_id":"ENSG00000151090"}},"GRch38":{"90":{"location":"3:24117160-24495282","ensembl_id":"ENSG00000151090"}}},"hgnc_date_symbol_changed":"1988-08-31"},"entity_type":"gene","entity_name":"THRB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Thyroid hormone resistance, MIM# 188570","Thyroid hormone resistance, autosomal recessive, MIM# 274300","Thyroid hormone resistance, selective pituitary, MIM# 145650"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8857","gene_name":"peroxisomal biogenesis factor 16","omim_gene":["603360"],"alias_name":null,"gene_symbol":"PEX16","hgnc_symbol":"PEX16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:45931220-45940363","ensembl_id":"ENSG00000121680"}},"GRch38":{"90":{"location":"11:45909669-45918812","ensembl_id":"ENSG00000121680"}}},"hgnc_date_symbol_changed":"1999-04-07"},"entity_type":"gene","entity_name":"PEX16","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11890679","9837814","20647552","20301621","30078639"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876","Peroxisome biogenesis disorder 8B MIM#614877"],"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":["KIAA0018","seladin-1"],"biotype":"protein_coding","hgnc_id":"HGNC:2859","gene_name":"24-dehydrocholesterol reductase","omim_gene":["606418"],"alias_name":null,"gene_symbol":"DHCR24","hgnc_symbol":"DHCR24","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:55315306-55352891","ensembl_id":"ENSG00000116133"}},"GRch38":{"90":{"location":"1:54849633-54887218","ensembl_id":"ENSG00000116133"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"DHCR24","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33524375","21671375","12457401","29175559","21559050","29175559","11519011","24961299"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Desmosterolosis, MIM#602398"],"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":["ZIP4","AWMS2"],"biotype":"protein_coding","hgnc_id":"HGNC:17129","gene_name":"solute carrier family 39 member 4","omim_gene":["607059"],"alias_name":null,"gene_symbol":"SLC39A4","hgnc_symbol":"SLC39A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:145635126-145642279","ensembl_id":"ENSG00000147804"}},"GRch38":{"90":{"location":"8:144409742-144416895","ensembl_id":"ENSG00000147804"}}},"hgnc_date_symbol_changed":"2002-02-13"},"entity_type":"gene","entity_name":"SLC39A4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19370757"],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Acrodermatitis enteropathica, MIM# 201100"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:7436","gene_name":"methylenetetrahydrofolate reductase","omim_gene":["607093"],"alias_name":null,"gene_symbol":"MTHFR","hgnc_symbol":"MTHFR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:11845780-11866977","ensembl_id":"ENSG00000177000"}},"GRch38":{"90":{"location":"1:11785723-11806920","ensembl_id":"ENSG00000177000"}}},"hgnc_date_symbol_changed":"1994-07-15"},"entity_type":"gene","entity_name":"MTHFR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7920641","26872964"],"evidence":["Expert Review Green"],"phenotypes":["Homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353","Disorders of folate metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4257,"hash_id":null,"name":"Vitamin metabolism disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"The gene panel contains genes that cause inborn errors of vitamin metabolism.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.7","version_created":"2024-09-18T09:35:00.495806+10:00","relevant_disorders":["Abnormality of vitamin metabolism","HP:0100508"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7882","gene_name":"notch 2","omim_gene":["600275"],"alias_name":null,"gene_symbol":"NOTCH2","hgnc_symbol":"NOTCH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:120454176-120612240","ensembl_id":"ENSG00000134250"}},"GRch38":{"90":{"location":"1:119911553-120069626","ensembl_id":"ENSG00000134250"}}},"hgnc_date_symbol_changed":"1994-11-10"},"entity_type":"gene","entity_name":"NOTCH2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32312275","30304577","28505269","28283672"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Inherited primary ovarian failure, MONDO:0019852, NOTCH2-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.148","version_created":"2026-04-21T17:36:51.081048+10:00","relevant_disorders":[],"stats":{"number_of_genes":266,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null}]}