{"count":36040,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=121","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=119","results":[{"gene_data":{"alias":["CPRP1","KIAA0214","MARF","CMT2A2"],"biotype":"protein_coding","hgnc_id":"HGNC:16877","gene_name":"mitofusin 2","omim_gene":["608507"],"alias_name":null,"gene_symbol":"MFN2","hgnc_symbol":"MFN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:12040238-12073571","ensembl_id":"ENSG00000116688"}},"GRch38":{"90":{"location":"1:11980181-12013514","ensembl_id":"ENSG00000116688"}}},"hgnc_date_symbol_changed":"2003-02-25"},"entity_type":"gene","entity_name":"MFN2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37804319"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Mitochondrial disease, MONDO:0044970, MFN2-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:870","gene_name":"ATPase copper transporting beta","omim_gene":["606882"],"alias_name":["Wilson disease","copper pump 2","copper-transporting ATPase 2"],"gene_symbol":"ATP7B","hgnc_symbol":"ATP7B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:52506809-52585630","ensembl_id":"ENSG00000123191"}},"GRch38":{"90":{"location":"13:51930436-52012125","ensembl_id":"ENSG00000123191"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ATP7B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["17435591"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Wilson disease MIM#277900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":[]},{"gene_data":{"alias":["FLJ10724","MART-2","MART2","Skn","ski","rasp","sit","GUP2"],"biotype":"protein_coding","hgnc_id":"HGNC:18270","gene_name":"hedgehog acyltransferase","omim_gene":["605743"],"alias_name":null,"gene_symbol":"HHAT","hgnc_symbol":"HHAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:210501596-210849638","ensembl_id":"ENSG00000054392"}},"GRch38":{"90":{"location":"1:210328252-210676296","ensembl_id":"ENSG00000054392"}}},"hgnc_date_symbol_changed":"2004-09-15"},"entity_type":"gene","entity_name":"HHAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33749989"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Nivelon-Nivelon-Mabille syndrome\t600092"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":28,"hash_id":null,"name":"Skeletal Dysplasia_Fetal","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.","status":"public","version":"0.246","version_created":"2026-03-02T10:22:48.751874+11:00","relevant_disorders":[],"stats":{"number_of_genes":157,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Myhre syndrome, MIM# 139210"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["KARS2","KARS1"],"biotype":"protein_coding","hgnc_id":"HGNC:6215","gene_name":"lysyl-tRNA synthetase","omim_gene":["601421"],"alias_name":["lysine tRNA ligase"],"gene_symbol":"KARS","hgnc_symbol":"KARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:75661622-75682541","ensembl_id":"ENSG00000065427"}},"GRch38":{"90":{"location":"16:75627474-75648643","ensembl_id":"ENSG00000065427"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"KARS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26741492","31618474","28887846","25330800","29615062","30252186","28496994"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Leukoencephalopathy with or without deafness (LEPID), MIM#619147"],"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":[]},{"gene_data":{"alias":["STAR"],"biotype":"protein_coding","hgnc_id":"HGNC:4688","gene_name":"guanylate cyclase 2C","omim_gene":["601330"],"alias_name":["STA receptor","heat stable enterotoxin receptor"],"gene_symbol":"GUCY2C","hgnc_symbol":"GUCY2C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:14765576-14849519","ensembl_id":"ENSG00000070019"}},"GRch38":{"90":{"location":"12:14612632-14696585","ensembl_id":"ENSG00000070019"}}},"hgnc_date_symbol_changed":"1994-04-15"},"entity_type":"gene","entity_name":"GUCY2C","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Diarrhea 6, 614616","Meconium ileus, 614665"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MDS010","MGC32995","9630046K23Rik","MDSRP","hCLP46","KDELCL1","Rumi"],"biotype":"protein_coding","hgnc_id":"HGNC:22954","gene_name":"protein O-glucosyltransferase 1","omim_gene":["615618"],"alias_name":["KDELC family like 1"],"gene_symbol":"POGLUT1","hgnc_symbol":"POGLUT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:119187785-119213555","ensembl_id":"ENSG00000163389"}},"GRch38":{"90":{"location":"3:119468938-119494708","ensembl_id":"ENSG00000163389"}}},"hgnc_date_symbol_changed":"2010-09-29"},"entity_type":"gene","entity_name":"POGLUT1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["27807076","24387993"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":68,"hash_id":null,"name":"Congenital Disorders of Glycosylation","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital Disorders of Glycosylation' panel v2.4 with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.85","version_created":"2026-04-02T10:46:27.496905+11:00","relevant_disorders":["Abnormal transferrin saturation","HP:0040135"],"stats":{"number_of_genes":141,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3091","gene_name":"dual specificity tyrosine phosphorylation regulated kinase 1A","omim_gene":["600855"],"alias_name":null,"gene_symbol":"DYRK1A","hgnc_symbol":"DYRK1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:38738092-38889753","ensembl_id":"ENSG00000157540"}},"GRch38":{"90":{"location":"21:37365790-37517450","ensembl_id":"ENSG00000157540"}}},"hgnc_date_symbol_changed":"1999-01-29"},"entity_type":"gene","entity_name":"DYRK1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33528536"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder MIM#614104"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2202","gene_name":"collagen type IV alpha 1 chain","omim_gene":["120130"],"alias_name":null,"gene_symbol":"COL4A1","hgnc_symbol":"COL4A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:110801318-110959496","ensembl_id":"ENSG00000187498"}},"GRch38":{"90":{"location":"13:110148963-110307149","ensembl_id":"ENSG00000187498"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL4A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31700678","17379824","33528536","34531397"],"evidence":["Expert Review Green","Literature"],"phenotypes":["{Hemorrhage, intracerebral, susceptibility to}, MIM#\t614519","Brain small vessel disease MIM#614483"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PUMH1","KIAA0099"],"biotype":"protein_coding","hgnc_id":"HGNC:14957","gene_name":"pumilio RNA binding family member 1","omim_gene":["607204"],"alias_name":null,"gene_symbol":"PUM1","hgnc_symbol":"PUM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:31404353-31538838","ensembl_id":"ENSG00000134644"}},"GRch38":{"90":{"location":"1:30931506-31065991","ensembl_id":"ENSG00000134644"}}},"hgnc_date_symbol_changed":"2001-03-27"},"entity_type":"gene","entity_name":"PUM1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 39213953"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM#620719","Spinocerebellar ataxia 47, MIM#617931"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CSA"],"biotype":"protein_coding","hgnc_id":"HGNC:3439","gene_name":"ERCC excision repair 8, CSA ubiquitin ligase complex subunit","omim_gene":["609412"],"alias_name":null,"gene_symbol":"ERCC8","hgnc_symbol":"ERCC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:60169658-60240900","ensembl_id":"ENSG00000049167"}},"GRch38":{"90":{"location":"5:60873831-60945073","ensembl_id":"ENSG00000049167"}}},"hgnc_date_symbol_changed":"1995-02-07"},"entity_type":"gene","entity_name":"ERCC8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7664335","19894250"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cockayne syndrome, type A, MIM# 216400","MONDO:0019569","UV-sensitive syndrome 2, MIM# 614621","MONDO:0013829"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":79,"hash_id":null,"name":"Chromosome Breakage Disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created and is maintained by VCGS.\r\n\r\nChromosomal instability syndromes are a group of inherited disorders associated with chromosomal instability and breakage either spontaneously or in response to DNA damaging agents. They include ataxia telangiectasia, Bloom syndrome, Fanconi anaemia, Nijmegen breakage syndrome, immunodeficiency/centromeric instability/facial anomalies syndrome, Cockayne syndrome, trichothiodystrophy, xeroderma pigmentosum, DNA ligase I deficiency, and DNA recombinase repair defects.\r\n\r\nTypical features include impairment of growth, immunodeficiency, predisposition to infectious disease, and the risk of developing certain types of malignancies.","status":"public","version":"1.24","version_created":"2025-10-16T15:58:38.818741+11:00","relevant_disorders":["Chromosome breakage HP:0040012"],"stats":{"number_of_genes":60,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CSBP","TUNP"],"biotype":"protein_coding","hgnc_id":"HGNC:5044","gene_name":"heterogeneous nuclear ribonucleoprotein K","omim_gene":["600712"],"alias_name":["transformation upregulated nuclear protein"],"gene_symbol":"HNRNPK","hgnc_symbol":"HNRNPK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:86582998-86595569","ensembl_id":"ENSG00000165119"}},"GRch38":{"90":{"location":"9:83968083-83980616","ensembl_id":"ENSG00000165119"}}},"hgnc_date_symbol_changed":"2008-04-18"},"entity_type":"gene","entity_name":"HNRNPK","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["26173930","26954065","29904177"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Au-Kline syndrome, MIM#616580"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":93,"hash_id":null,"name":"Craniosynostosis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH. It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.","status":"public","version":"1.85","version_created":"2026-04-07T13:46:55.940488+10:00","relevant_disorders":["Craniosynostosis HP:0001363"],"stats":{"number_of_genes":105,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["STA","LEMD5"],"biotype":"protein_coding","hgnc_id":"HGNC:3331","gene_name":"emerin","omim_gene":["300384"],"alias_name":["LEM domain containing 5"],"gene_symbol":"EMD","hgnc_symbol":"EMD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153607557-153609883","ensembl_id":"ENSG00000102119"}},"GRch38":{"90":{"location":"X:154379197-154381523","ensembl_id":"ENSG00000102119"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"EMD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["18266676","24997722","32755394","38337354","40065010"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["FKBP59","FKBP52"],"biotype":"protein_coding","hgnc_id":"HGNC:3720","gene_name":"FK506 binding protein 4","omim_gene":["600611"],"alias_name":null,"gene_symbol":"FKBP4","hgnc_symbol":"FKBP4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:2904119-2914576","ensembl_id":"ENSG00000004478"}},"GRch38":{"90":{"location":"12:2794953-2805423","ensembl_id":"ENSG00000004478"}}},"hgnc_date_symbol_changed":"1992-09-14"},"entity_type":"gene","entity_name":"FKBP4","confidence_level":"2","penetrance":"unknown","mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Amber","Other"],"phenotypes":["complex neurodevelopmental disorder MONDO:0100038"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":99,"hash_id":null,"name":"Differences of Sex Development","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.50","version_created":"2026-04-12T14:14:27.453739+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":142,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HCAP","BAM","SMC3L1","bamacan"],"biotype":"protein_coding","hgnc_id":"HGNC:2468","gene_name":"structural maintenance of chromosomes 3","omim_gene":["606062"],"alias_name":["bamacan proteoglycan"],"gene_symbol":"SMC3","hgnc_symbol":"SMC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:112327449-112364394","ensembl_id":"ENSG00000108055"}},"GRch38":{"90":{"location":"10:110567691-110604636","ensembl_id":"ENSG00000108055"}}},"hgnc_date_symbol_changed":"2006-07-06"},"entity_type":"gene","entity_name":"SMC3","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":120,"hash_id":null,"name":"Hypertrichosis syndromes","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.48","version_created":"2026-01-14T13:37:51.409228+11:00","relevant_disorders":["Hypertrichosis","HP:0000998"],"stats":{"number_of_genes":29,"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":["NTG","KIAA0567","FLJ12460","NPG","MGM1"],"biotype":"protein_coding","hgnc_id":"HGNC:8140","gene_name":"OPA1, mitochondrial dynamin like GTPase","omim_gene":["605290"],"alias_name":["mitochondrial dynamin-like GTPase","dynamin-like guanosine triphosphatase","Dynamin-like 120 kDa protein, mitochondrial"],"gene_symbol":"OPA1","hgnc_symbol":"OPA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:193310933-193415612","ensembl_id":"ENSG00000198836"}},"GRch38":{"90":{"location":"3:193593144-193697823","ensembl_id":"ENSG00000198836"}}},"hgnc_date_symbol_changed":"1987-09-11"},"entity_type":"gene","entity_name":"OPA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30165240"],"evidence":["Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship","Victorian Clinical Genetics Services"],"phenotypes":["OPA1-related optic atrophy with or without extraocular features, MONDO:0800181"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["KIAA0359","FLA8","KLP-11"],"biotype":"protein_coding","hgnc_id":"HGNC:6320","gene_name":"kinesin family member 3B","omim_gene":["603754"],"alias_name":null,"gene_symbol":"KIF3B","hgnc_symbol":"KIF3B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:30865467-30922814","ensembl_id":"ENSG00000101350"}},"GRch38":{"90":{"location":"20:32277664-32335011","ensembl_id":"ENSG00000101350"}}},"hgnc_date_symbol_changed":"1999-07-06"},"entity_type":"gene","entity_name":"KIF3B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32386558"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["hepatic fibrosis","retinitis pigmentosa","postaxial polydactyly","Retinitis pigmentosa 89, MIM#618955"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["SEN54","SEN54L"],"biotype":"protein_coding","hgnc_id":"HGNC:27561","gene_name":"tRNA splicing endonuclease subunit 54","omim_gene":["608755"],"alias_name":null,"gene_symbol":"TSEN54","hgnc_symbol":"TSEN54","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:73512141-73520820","ensembl_id":"ENSG00000182173"}},"GRch38":{"90":{"location":"17:75516060-75524739","ensembl_id":"ENSG00000182173"}}},"hgnc_date_symbol_changed":"2005-03-11"},"entity_type":"gene","entity_name":"TSEN54","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24938831","41825724","39634246","39400946","39034883","38622473","38347586","35962274","34085948","32697043","32214227","29410950","27570394","27430971"],"evidence":["Expert Review Green","Expert list","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Pontocerebellar hypoplasia type 2A 277470","Pontocerebellar hypoplasia type 4 225753"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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:12616","gene_name":"ubiquitin specific peptidase 18","omim_gene":["607057"],"alias_name":null,"gene_symbol":"USP18","hgnc_symbol":"USP18","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:18632666-18660164","ensembl_id":"ENSG00000184979"}},"GRch38":{"90":{"location":"22:18149899-18177397","ensembl_id":"ENSG00000184979"}}},"hgnc_date_symbol_changed":"1999-11-16"},"entity_type":"gene","entity_name":"USP18","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31940699, 12833411, 27325888"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Pseudo-TORCH syndrome 2 MIM#617397"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["EIF2Bdelta","EIF-2B","DKFZP586J0119","EIF2B"],"biotype":"protein_coding","hgnc_id":"HGNC:3260","gene_name":"eukaryotic translation initiation factor 2B subunit delta","omim_gene":["606687"],"alias_name":null,"gene_symbol":"EIF2B4","hgnc_symbol":"EIF2B4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:27587219-27593353","ensembl_id":"ENSG00000115211"}},"GRch38":{"90":{"location":"2:27364352-27370486","ensembl_id":"ENSG00000115211"}}},"hgnc_date_symbol_changed":"1998-10-16"},"entity_type":"gene","entity_name":"EIF2B4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11835386","12707859","18263758","25843247","25761052","30014503"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Leukoencephalopathy with vanishing white matter, MIM#\t603896","leukoencephalopathy with vanishing white matter MONDO:0011380","ataxia","spasticity","optic atrophy","primary ovarian failure"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["CLN10"],"biotype":"protein_coding","hgnc_id":"HGNC:2529","gene_name":"cathepsin D","omim_gene":["116840"],"alias_name":["ceroid-lipofuscinosis, neuronal 10"],"gene_symbol":"CTSD","hgnc_symbol":"CTSD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:1773982-1785222","ensembl_id":"ENSG00000117984"}},"GRch38":{"90":{"location":"11:1752752-1764573","ensembl_id":"ENSG00000117984"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CTSD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16685649","16670177","25298308","33681191","29284168","27072142"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 10, MIM# 610127","MONDO:0012414"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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:461","gene_name":"amelogenin, X-linked","omim_gene":["300391"],"alias_name":["amelogenesis imperfecta 1"],"gene_symbol":"AMELX","hgnc_symbol":"AMELX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:11311533-11318881","ensembl_id":"ENSG00000125363"}},"GRch38":{"90":{"location":"X:11293413-11300761","ensembl_id":"ENSG00000125363"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"AMELX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17189466","22243263","7599636","23251683","1483698","1916828","9188994","15111628","11201048","26502894","7782077","11922869","28130977","8406474","11839357","25117480","19610109"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Amelogenesis imperfecta, type 1E, MIM# 301200"],"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"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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:10451","gene_name":"ribonucleotide reductase catalytic subunit M1","omim_gene":["180410"],"alias_name":null,"gene_symbol":"RRM1","hgnc_symbol":"RRM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:4115937-4160106","ensembl_id":"ENSG00000167325"}},"GRch38":{"90":{"location":"11:4094707-4138876","ensembl_id":"ENSG00000167325"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"RRM1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["35617047"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["HUSPECV","BSPECV","HUBSPECV"],"biotype":"protein_coding","hgnc_id":"HGNC:15680","gene_name":"spectrin beta, non-erythrocytic 5","omim_gene":["605916"],"alias_name":["beta V spectrin"],"gene_symbol":"SPTBN5","hgnc_symbol":"SPTBN5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:42140345-42186275","ensembl_id":"ENSG00000137877"}},"GRch38":{"90":{"location":"15:41848144-41894077","ensembl_id":"ENSG00000137877"}}},"hgnc_date_symbol_changed":"2001-05-29"},"entity_type":"gene","entity_name":"SPTBN5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["35782384","32732226","28007035"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, SPTBN5-related","Sacral agenesis","congenital anomalies"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["MGC2835","APR-5","DP97"],"biotype":"protein_coding","hgnc_id":"HGNC:20084","gene_name":"DEAD-box helicase 54","omim_gene":["611665"],"alias_name":null,"gene_symbol":"DDX54","hgnc_symbol":"DDX54","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:113594979-113623284","ensembl_id":"ENSG00000123064"}},"GRch38":{"90":{"location":"12:113157174-113185479","ensembl_id":"ENSG00000123064"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"DDX54","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["31256877"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, DDX54-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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["TPT","COQ1"],"biotype":"protein_coding","hgnc_id":"HGNC:17759","gene_name":"decaprenyl diphosphate synthase subunit 1","omim_gene":["607429"],"alias_name":["coenzyme Q1 homolog (yeast)"],"gene_symbol":"PDSS1","hgnc_symbol":"PDSS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:26986588-27035727","ensembl_id":"ENSG00000148459"}},"GRch38":{"90":{"location":"10:26697659-26746798","ensembl_id":"ENSG00000148459"}}},"hgnc_date_symbol_changed":"2006-02-14"},"entity_type":"gene","entity_name":"PDSS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17332895","22494076","33285023"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Coenzyme Q10 deficiency, primary, 2 MIM#614651"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["GPC","GYPD","Ge","CD236","CD236R"],"biotype":"protein_coding","hgnc_id":"HGNC:4704","gene_name":"glycophorin C (Gerbich blood group)","omim_gene":["110750"],"alias_name":null,"gene_symbol":"GYPC","hgnc_symbol":"GYPC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:127413509-127454246","ensembl_id":"ENSG00000136732"}},"GRch38":{"90":{"location":"2:126655933-126696675","ensembl_id":"ENSG00000136732"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"GYPC","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29469208"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["[Blood group, Gerbich] MIM#616089"],"mode_of_inheritance":"Other","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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["CAGL85","Beta3","bHLHe22"],"biotype":"protein_coding","hgnc_id":"HGNC:11963","gene_name":"basic helix-loop-helix family member e22","omim_gene":["613483"],"alias_name":null,"gene_symbol":"BHLHE22","hgnc_symbol":"BHLHE22","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:65492814-65496181","ensembl_id":"ENSG00000180828"}},"GRch38":{"90":{"location":"8:64580367-64583628","ensembl_id":"ENSG00000180828"}}},"hgnc_date_symbol_changed":"2009-01-12"},"entity_type":"gene","entity_name":"BHLHE22","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39502664"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, BHLHE22-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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["DKFZp313L0718"],"biotype":"protein_coding","hgnc_id":"HGNC:4620","gene_name":"gelsolin","omim_gene":["137350"],"alias_name":["amyloidosis, Finnish type"],"gene_symbol":"GSN","hgnc_symbol":"GSN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:123970072-124095121","ensembl_id":"ENSG00000148180"}},"GRch38":{"90":{"location":"9:121207794-121332843","ensembl_id":"ENSG00000148180"}}},"hgnc_date_symbol_changed":"1988-07-19"},"entity_type":"gene","entity_name":"GSN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["2176164","28139293"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Amyloidosis, Finnish type, MIM# 105120"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["PIP5Kgamma","KIAA0589","LCCS3"],"biotype":"protein_coding","hgnc_id":"HGNC:8996","gene_name":"phosphatidylinositol-4-phosphate 5-kinase type 1 gamma","omim_gene":["606102"],"alias_name":null,"gene_symbol":"PIP5K1C","hgnc_symbol":"PIP5K1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:3630181-3700477","ensembl_id":"ENSG00000186111"}},"GRch38":{"90":{"location":"19:3630183-3700479","ensembl_id":"ENSG00000186111"}}},"hgnc_date_symbol_changed":"1999-12-14"},"entity_type":"gene","entity_name":"PIP5K1C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["17701898","37451268"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Lethal congenital contractural syndrome 3, MIM# 611369"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":139,"hash_id":null,"name":"Multiple pterygium syndrome_Fetal akinesia sequence","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains genes associated with severe perinatal disorders presenting with joint contractures, webbing and reduced fetal movements in particular those associated with:\r\n-fetal akinesia deformation sequence (FADS);\r\n-multiple pterygium syndromes;\r\n-lethal congenital contractures syndromes.\r\n\r\nPlease also consider a broader range of neurological conditions covered by the Congenital Myasthenia, Myopathy - paediatric onset, Arthrogryposis and Neuropathy panels, as well as the Intellectual disability panel.","status":"public","version":"1.11","version_created":"2026-02-25T14:53:33.284450+11:00","relevant_disorders":["Pterygium","HP:0001059; Akinesia","HP:0002304; Fetal akinesia sequence","HP:0001989"],"stats":{"number_of_genes":28,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9608","gene_name":"parathyroid hormone 1 receptor","omim_gene":["168468"],"alias_name":null,"gene_symbol":"PTH1R","hgnc_symbol":"PTH1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:46919236-46945287","ensembl_id":"ENSG00000160801"}},"GRch38":{"90":{"location":"3:46877746-46903799","ensembl_id":"ENSG00000160801"}}},"hgnc_date_symbol_changed":"2008-11-18"},"entity_type":"gene","entity_name":"PTH1R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["36159186","37448157","39327493"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Chondrodysplasia, Blomstrand type, MIM# 215045"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":150,"hash_id":null,"name":"Osteopetrosis","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel contains genes associated with osteopetrosis, a group of hereditary metabolic bone diseases, all of which detrimentally affect bone growth and remodelling leading to generalized osteosclerosis.\r\n\r\nThe panel includes skeletal dysplasias and syndromic disorders associated with bone sclerosis that can overlap with the clinical presentation of classical osteopetrosis.\r\n\r\nThis panel was developed and is maintained by VCGS. It has been compared against the Genomics England PanelApp 'osteopetrosis' panel V1.35, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nUpdated following literature review December 2025.","status":"public","version":"1.0","version_created":"2025-12-22T12:45:57.007049+11:00","relevant_disorders":["Increased bone mineral density","HP:0011001"],"stats":{"number_of_genes":37,"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":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P57","KIP2"],"biotype":"protein_coding","hgnc_id":"HGNC:1786","gene_name":"cyclin dependent kinase inhibitor 1C","omim_gene":["600856"],"alias_name":null,"gene_symbol":"CDKN1C","hgnc_symbol":"CDKN1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:2904443-2907111","ensembl_id":"ENSG00000129757"}},"GRch38":{"90":{"location":"11:2883213-2885881","ensembl_id":"ENSG00000129757"}}},"hgnc_date_symbol_changed":"1995-09-14"},"entity_type":"gene","entity_name":"CDKN1C","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":152,"hash_id":null,"name":"Cancer Predisposition_Paediatric","disease_group":"Cancer","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.133","version_created":"2026-01-12T09:35:45.797477+11:00","relevant_disorders":[],"stats":{"number_of_genes":106,"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":["Hb-3"],"biotype":"protein_coding","hgnc_id":"HGNC:6460","gene_name":"keratin 83","omim_gene":["602765"],"alias_name":["hard keratin type II"],"gene_symbol":"KRT83","hgnc_symbol":"KRT83","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52708085-52715182","ensembl_id":"ENSG00000170523"}},"GRch38":{"90":{"location":"12:52314301-52321398","ensembl_id":"ENSG00000170523"}}},"hgnc_date_symbol_changed":"2006-07-17"},"entity_type":"gene","entity_name":"KRT83","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["27965375"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["Erythrokeratodermia variabilis et progressiva 5, MIM# 617756"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":153,"hash_id":null,"name":"Palmoplantar Keratoderma and Erythrokeratoderma","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.","status":"public","version":"0.144","version_created":"2026-03-08T22:20:02.332483+11:00","relevant_disorders":["Palmoplantar keratoderma","HP:0000982; Erythrokeratoderma","MONDO:0019270"],"stats":{"number_of_genes":73,"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":[]},{"gene_data":{"alias":["CPX","CPXD","CHO2"],"biotype":"protein_coding","hgnc_id":"HGNC:3133","gene_name":"emopamil binding protein (sterol isomerase)","omim_gene":["300205"],"alias_name":["3-beta-hydroxysteroid-delta-8,delta-7-isomerase","Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)","sterol 8-isomerase"],"gene_symbol":"EBP","hgnc_symbol":"EBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48379546-48387104","ensembl_id":"ENSG00000147155"}},"GRch38":{"90":{"location":"X:48521158-48528716","ensembl_id":"ENSG00000147155"}}},"hgnc_date_symbol_changed":"2000-02-21"},"entity_type":"gene","entity_name":"EBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["10391218","11038443","12509714"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Chondrodysplasia punctata, X-linked dominant\t302960"],"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":153,"hash_id":null,"name":"Palmoplantar Keratoderma and Erythrokeratoderma","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.","status":"public","version":"0.144","version_created":"2026-03-08T22:20:02.332483+11:00","relevant_disorders":["Palmoplantar keratoderma","HP:0000982; Erythrokeratoderma","MONDO:0019270"],"stats":{"number_of_genes":73,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:9498","gene_name":"prosaposin","omim_gene":["176801"],"alias_name":["variant Gaucher disease and variant metachromatic leukodystrophy"],"gene_symbol":"PSAP","hgnc_symbol":"PSAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:73576055-73611126","ensembl_id":"ENSG00000197746"}},"GRch38":{"90":{"location":"10:71816298-71851375","ensembl_id":"ENSG00000197746"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PSAP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10682309","1371116","15773042","31061751","30632081"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Combined SAP deficiency, MIM# 611721","Encephalopathy due to prosaposin deficiency, MONDO:0012719","Krabbe disease, atypical, MIM# 611722","MONDO:0012720","Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900","MONDO:0009590","Gaucher disease, atypical, MIM# 610539","MONDO:0012517"],"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":["FLJ32173","MGC16028"],"biotype":"protein_coding","hgnc_id":"HGNC:29669","gene_name":"intraflagellar transport 43","omim_gene":["614068"],"alias_name":null,"gene_symbol":"IFT43","hgnc_symbol":"IFT43","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:76368479-76550928","ensembl_id":"ENSG00000119650"}},"GRch38":{"90":{"location":"14:75902136-76084585","ensembl_id":"ENSG00000119650"}}},"hgnc_date_symbol_changed":"2011-06-09"},"entity_type":"gene","entity_name":"IFT43","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28400947","21378380","29896747"],"evidence":["Expert Review Green","KidGen_CilioNephronop v38.1.0","Victorian Clinical Genetics Services"],"phenotypes":["Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866","Cranioectodermal dysplasia 3, MIM# 614099"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":193,"hash_id":null,"name":"Renal Ciliopathies and Nephronophthisis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen","status":"public","version":"1.53","version_created":"2026-03-19T17:14:29.802874+11:00","relevant_disorders":["Abnormality of renal medullary morphology","HP:0025361; Renal cyst","HP:0000107"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["trnT"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7499","gene_name":"mitochondrially encoded tRNA threonine","omim_gene":["590090"],"alias_name":null,"gene_symbol":"MT-TT","hgnc_symbol":"MT-TT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:15888-15953","ensembl_id":"ENSG00000210195"}},"GRch38":{"90":{"location":"MT:15888-15953","ensembl_id":"ENSG00000210195"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32083134","8769114","9367299","1645537","8511015","22638997","29760464","30236074","28187756","35808913"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TT-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9751","gene_name":"glutaminyl-tRNA synthetase","omim_gene":["603727"],"alias_name":["glutamine tRNA ligase"],"gene_symbol":"QARS","hgnc_symbol":"QARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:49133365-49142553","ensembl_id":"ENSG00000172053"}},"GRch38":{"90":{"location":"3:49095932-49105135","ensembl_id":"ENSG00000172053"}}},"hgnc_date_symbol_changed":"1994-12-13"},"entity_type":"gene","entity_name":"QARS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28620870","25471517","25432320","25041233","24656866","32042906"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp434E202"],"biotype":"protein_coding","hgnc_id":"HGNC:6494","gene_name":"laminin subunit gamma 3","omim_gene":["604349"],"alias_name":null,"gene_symbol":"LAMC3","hgnc_symbol":"LAMC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:133884469-133969860","ensembl_id":"ENSG00000050555"}},"GRch38":{"90":{"location":"9:131009082-131094473","ensembl_id":"ENSG00000050555"}}},"hgnc_date_symbol_changed":"1999-07-23"},"entity_type":"gene","entity_name":"LAMC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33639934","21572413","34354730"],"evidence":["Expert Review Green","Expert Review Green","Literature"],"phenotypes":["Cortical malformations, occipital, MIM#614115"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1032","Munc13-1"],"biotype":"protein_coding","hgnc_id":"HGNC:23150","gene_name":"unc-13 homolog A","omim_gene":["609894"],"alias_name":null,"gene_symbol":"UNC13A","hgnc_symbol":"UNC13A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:17712137-17799401","ensembl_id":"ENSG00000130477"}},"GRch38":{"90":{"location":"19:17601328-17688365","ensembl_id":"ENSG00000130477"}}},"hgnc_date_symbol_changed":"2003-10-16"},"entity_type":"gene","entity_name":"UNC13A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["27648472","28192369","41125872"],"evidence":["Expert Review Green","Literature","Victorian Clinical Genetics Services"],"phenotypes":["Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456","Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455","Intellectual development disorder with seizures and dysmorphic facies, MIM# 621457"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DHRS5X","DHRSXY","DHRSY","DHRS5Y","SDR46C1","SDR7C6"],"biotype":"protein_coding","hgnc_id":"HGNC:18399","gene_name":"dehydrogenase/reductase X-linked","omim_gene":null,"alias_name":["short chain dehydrogenase/reductase family 7C, member 6","short chain dehydrogenase/reductase family 46C, member 1","dehydrogenase/reductase (SDR family) Y-linked"],"gene_symbol":"DHRSX","hgnc_symbol":"DHRSX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:2137557-2420846","ensembl_id":"ENSG00000169084"}},"GRch38":{"90":{"location":"X:2219516-2502805","ensembl_id":"ENSG00000169084"}}},"hgnc_date_symbol_changed":"2002-03-18"},"entity_type":"gene","entity_name":"DHRSX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["38821050"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Congenital disorder of glycosylation, type 1DD, MIM# 301133"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["LonHS","hLON","PIM1"],"biotype":"protein_coding","hgnc_id":"HGNC:9479","gene_name":"lon peptidase 1, mitochondrial","omim_gene":["605490"],"alias_name":null,"gene_symbol":"LONP1","hgnc_symbol":"LONP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:5691845-5720583","ensembl_id":"ENSG00000196365"}},"GRch38":{"90":{"location":"19:5691834-5720572","ensembl_id":"ENSG00000196365"}}},"hgnc_date_symbol_changed":"2006-10-20"},"entity_type":"gene","entity_name":"LONP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31636596","36353900","31923470"],"evidence":["Expert Review Green","Literature"],"phenotypes":["CODAS syndrome, MIM#600373","mitochondrial disease (MONDO:0044970), LONP1-related"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MRK","LCK2","KIAA0936","MGC46090"],"biotype":"protein_coding","hgnc_id":"HGNC:21219","gene_name":"intestinal cell kinase","omim_gene":["612325"],"alias_name":["serine/threonine-protein kinase ICK","MAK-related kinase"],"gene_symbol":"ICK","hgnc_symbol":"ICK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:52866077-52926600","ensembl_id":"ENSG00000112144"}},"GRch38":{"90":{"location":"6:53001279-53061802","ensembl_id":"ENSG00000112144"}}},"hgnc_date_symbol_changed":"2003-08-21"},"entity_type":"gene","entity_name":"ICK","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":["KIAA1270","bA444E17.1"],"biotype":"protein_coding","hgnc_id":"HGNC:21022","gene_name":"alanyl-tRNA synthetase 2, mitochondrial","omim_gene":["612035"],"alias_name":["alanine tRNA ligase 2, mitochondrial"],"gene_symbol":"AARS2","hgnc_symbol":"AARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:44267391-44281063","ensembl_id":"ENSG00000124608"}},"GRch38":{"90":{"location":"6:44299654-44313326","ensembl_id":"ENSG00000124608"}}},"hgnc_date_symbol_changed":"2007-02-23"},"entity_type":"gene","entity_name":"AARS2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["30706699","27839525","21549344","25058219","24808023"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Combined oxidative phosphorylation deficiency 8 MIM#614096","Leukoencephalopathy, progressive, with ovarian failure MIM#615889","MONDO:0013570"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["Atp12p","ATP12","LP3663","MGC29736"],"biotype":"protein_coding","hgnc_id":"HGNC:18802","gene_name":"ATP synthase mitochondrial F1 complex assembly factor 2","omim_gene":["608918"],"alias_name":null,"gene_symbol":"ATPAF2","hgnc_symbol":"ATPAF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:17880723-17942523","ensembl_id":"ENSG00000171953"}},"GRch38":{"90":{"location":"17:17977409-18039209","ensembl_id":"ENSG00000171953"}}},"hgnc_date_symbol_changed":"2002-07-01"},"entity_type":"gene","entity_name":"ATPAF2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":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":["HSS","FLJ11729","PKAN","HARP"],"biotype":"protein_coding","hgnc_id":"HGNC:15894","gene_name":"pantothenate kinase 2","omim_gene":["606157"],"alias_name":["Hallervorden-Spatz syndrome"],"gene_symbol":"PANK2","hgnc_symbol":"PANK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:3869486-3907605","ensembl_id":"ENSG00000125779"}},"GRch38":{"90":{"location":"20:3888839-3929882","ensembl_id":"ENSG00000125779"}}},"hgnc_date_symbol_changed":"2002-09-06"},"entity_type":"gene","entity_name":"PANK2","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":["FGE","UNQ3037"],"biotype":"protein_coding","hgnc_id":"HGNC:20376","gene_name":"sulfatase modifying factor 1","omim_gene":["607939"],"alias_name":null,"gene_symbol":"SUMF1","hgnc_symbol":"SUMF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:3742498-4508965","ensembl_id":"ENSG00000144455"}},"GRch38":{"90":{"location":"3:3700814-4467281","ensembl_id":"ENSG00000144455"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"SUMF1","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":["ALK-5","ACVRLK4","ALK5"],"biotype":"protein_coding","hgnc_id":"HGNC:11772","gene_name":"transforming growth factor beta receptor 1","omim_gene":["190181"],"alias_name":["activin A receptor type II-like kinase, 53kDa"],"gene_symbol":"TGFBR1","hgnc_symbol":"TGFBR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:101866320-101916474","ensembl_id":"ENSG00000106799"}},"GRch38":{"90":{"location":"9:99104038-99154192","ensembl_id":"ENSG00000106799"}}},"hgnc_date_symbol_changed":"1993-09-30"},"entity_type":"gene","entity_name":"TGFBR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["24333532","23884466","32048120"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Loeys-Dietz syndrome 1 MIM#609192"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.145","version_created":"2026-03-02T21:55:19.238904+11:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HPS9"],"biotype":"protein_coding","hgnc_id":"HGNC:8549","gene_name":"biogenesis of lysosomal organelles complex 1 subunit 6","omim_gene":["604310"],"alias_name":null,"gene_symbol":"BLOC1S6","hgnc_symbol":"BLOC1S6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:45879321-45908197","ensembl_id":"ENSG00000104164"}},"GRch38":{"90":{"location":"15:45587123-45615999","ensembl_id":"ENSG00000104164"}}},"hgnc_date_symbol_changed":"2012-08-01"},"entity_type":"gene","entity_name":"BLOC1S6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32245340","33543539","29054114","26575419","22461475","10610180"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Hermansky-Pudlak syndrome 9, MIM# 614171"],"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":["FUCT1","FLJ11320"],"biotype":"protein_coding","hgnc_id":"HGNC:20197","gene_name":"solute carrier family 35 member C1","omim_gene":["605881"],"alias_name":null,"gene_symbol":"SLC35C1","hgnc_symbol":"SLC35C1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:45825623-45834566","ensembl_id":"ENSG00000181830"}},"GRch38":{"90":{"location":"11:45804072-45813015","ensembl_id":"ENSG00000181830"}}},"hgnc_date_symbol_changed":"2003-10-08"},"entity_type":"gene","entity_name":"SLC35C1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11326279","12116250","33098347","32313197","24403049"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":233,"hash_id":null,"name":"Phagocyte Defects","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with abnormalities in phagocyte number, function or both. Susceptibility to infection from phagocytic dysfunction ranges from mild, recurrent skin infections to overwhelming, fatal systemic infection. Affected individuals are more susceptible to bacterial and fungal infections but have a normal resistance to viral infections. Most are diagnosed in infancy due to the severity of the infection or the unusual presentation of the organism, but some are diagnosed in adulthood. Includes:\r\n- Congenital Neutropenias\r\n- Defects of Motility\r\n- Defects of Respiratory Burst\r\n- Other Non-Lymphoid Defects\r\n\r\nUpdated with the 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).\r\n\r\nThis panel was merged with and replaces the Melbourne Genomics Immunology Flagship Neutrophil Defects gene panel (22/03/2021).","status":"public","version":"1.45","version_created":"2025-12-15T10:26:57.519304+11:00","relevant_disorders":["Unusual infection","HP:0032101"],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["p51","SHFM4","EEC3","p63","p73L","OFC8","KET","p73H","NBP","p53CP"],"biotype":"protein_coding","hgnc_id":"HGNC:15979","gene_name":"tumor protein p63","omim_gene":["603273"],"alias_name":null,"gene_symbol":"TP63","hgnc_symbol":"TP63","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:189349205-189615068","ensembl_id":"ENSG00000073282"}},"GRch38":{"90":{"location":"3:189631416-189897279","ensembl_id":"ENSG00000073282"}}},"hgnc_date_symbol_changed":"2002-04-18"},"entity_type":"gene","entity_name":"TP63","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["doi: 10.3389/fimmu.2024.1438383"],"evidence":["Expert Review Green","Literature"],"phenotypes":["TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":235,"hash_id":null,"name":"Severe Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with severe combined immunodeficiency (SCID), including the following:\r\n- SCID with absent T present B cells\r\n- SCID with absent T absent B cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.30","version_created":"2026-03-02T10:27:29.970169+11:00","relevant_disorders":["Severe combined immunodeficiency","HP:0004430"],"stats":{"number_of_genes":28,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["LRBP","MK"],"biotype":"protein_coding","hgnc_id":"HGNC:7530","gene_name":"mevalonate kinase","omim_gene":["251170"],"alias_name":["LH receptor mRNA-binding protein","mevalonic aciduria"],"gene_symbol":"MVK","hgnc_symbol":"MVK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:110011060-110035067","ensembl_id":"ENSG00000110921"}},"GRch38":{"90":{"location":"12:109573255-109598117","ensembl_id":"ENSG00000110921"}}},"hgnc_date_symbol_changed":"1992-10-06"},"entity_type":"gene","entity_name":"MVK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29047407","26409462","41240373","26202976"],"evidence":["Expert Review Green","Literature","Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Hyper-IgD syndrome (MIM#260920)","Mevalonic aciduria (MIM#610377)","porokeratosis 3, disseminated superficial actinic type MONDO:0008293"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":238,"hash_id":null,"name":"Autoinflammatory Disorders","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\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 Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).","status":"public","version":"2.46","version_created":"2026-03-16T12:22:08.572710+11:00","relevant_disorders":["Fever HP:0001945;Systemic autoinflammation HP:0033428"],"stats":{"number_of_genes":108,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6113","gene_name":"interleukin 1 receptor associated kinase 2","omim_gene":["603304"],"alias_name":null,"gene_symbol":"IRAK2","hgnc_symbol":"IRAK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:10206549-10285427","ensembl_id":"ENSG00000134070"}},"GRch38":{"90":{"location":"3:10164865-10243743","ensembl_id":"ENSG00000134070"}}},"hgnc_date_symbol_changed":"1998-06-22"},"entity_type":"gene","entity_name":"IRAK2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 39299377"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Immune dysregulation, MONDO:0957790, IRAK2-related"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":238,"hash_id":null,"name":"Autoinflammatory Disorders","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\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 Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).","status":"public","version":"2.46","version_created":"2026-03-16T12:22:08.572710+11:00","relevant_disorders":["Fever HP:0001945;Systemic autoinflammation HP:0033428"],"stats":{"number_of_genes":108,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GBP","LCEH","LCHAD","MTPA"],"biotype":"protein_coding","hgnc_id":"HGNC:4801","gene_name":"hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha","omim_gene":["600890"],"alias_name":["gastrin-binding protein","long-chain-3-hydroxyacyl-CoA dehydrogenase","long-chain 2-enoyl-CoA hydratase","mitochondrial trifunctional protein, alpha subunit"],"gene_symbol":"HADHA","hgnc_symbol":"HADHA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:26413504-26467594","ensembl_id":"ENSG00000084754"}},"GRch38":{"90":{"location":"2:26190635-26244726","ensembl_id":"ENSG00000084754"}}},"hgnc_date_symbol_changed":"1994-12-16"},"entity_type":"gene","entity_name":"HADHA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["36063482"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0012173"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Alix","AIP1","Hp95"],"biotype":"protein_coding","hgnc_id":"HGNC:8766","gene_name":"programmed cell death 6 interacting protein","omim_gene":["608074"],"alias_name":["ALG-2 interacting protein X"],"gene_symbol":"PDCD6IP","hgnc_symbol":"PDCD6IP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:33839844-33911194","ensembl_id":"ENSG00000170248"}},"GRch38":{"90":{"location":"3:33798352-33869707","ensembl_id":"ENSG00000170248"}}},"hgnc_date_symbol_changed":"1999-12-10"},"entity_type":"gene","entity_name":"PDCD6IP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 32286682"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Microcephaly 29, primary, autosomal recessive, MIM# 620047"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["A1","RFC37"],"biotype":"protein_coding","hgnc_id":"HGNC:9972","gene_name":"replication factor C subunit 4","omim_gene":["102577"],"alias_name":["A1 37 kDa subunit","activator 1 37 kDa subunit","RFC 37 kDa subunit"],"gene_symbol":"RFC4","hgnc_symbol":"RFC4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:186507669-186524847","ensembl_id":"ENSG00000163918"}},"GRch38":{"90":{"location":"3:186789880-186807058","ensembl_id":"ENSG00000163918"}}},"hgnc_date_symbol_changed":"1994-10-14"},"entity_type":"gene","entity_name":"RFC4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 39106866"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, RFC4-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GA2","EMA","MADD"],"biotype":"protein_coding","hgnc_id":"HGNC:3481","gene_name":"electron transfer flavoprotein alpha subunit","omim_gene":["608053"],"alias_name":["glutaric aciduria II"],"gene_symbol":"ETFA","hgnc_symbol":"ETFA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:76507696-76603813","ensembl_id":"ENSG00000140374"}},"GRch38":{"90":{"location":"15:76215355-76311472","ensembl_id":"ENSG00000140374"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ETFA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Glutaric acidemia IIA, MIM#231680"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RL","PRO1598"],"biotype":"protein_coding","hgnc_id":"HGNC:9957","gene_name":"reelin","omim_gene":["600514"],"alias_name":null,"gene_symbol":"RELN","hgnc_symbol":"RELN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:103112231-103629963","ensembl_id":"ENSG00000189056"}},"GRch38":{"90":{"location":"7:103471784-103989516","ensembl_id":"ENSG00000189056"}}},"hgnc_date_symbol_changed":"1997-07-22"},"entity_type":"gene","entity_name":"RELN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["35769015","29671837"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Lissencephaly 2 (Norman-Roberts type), MIM# 257320"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CRSP130","DRIP130","Sur2"],"biotype":"protein_coding","hgnc_id":"HGNC:2372","gene_name":"mediator complex subunit 23","omim_gene":["605042"],"alias_name":null,"gene_symbol":"MED23","hgnc_symbol":"MED23","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:131895106-131949369","ensembl_id":"ENSG00000112282"}},"GRch38":{"90":{"location":"6:131573966-131628229","ensembl_id":"ENSG00000112282"}}},"hgnc_date_symbol_changed":"2007-07-30"},"entity_type":"gene","entity_name":"MED23","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21868677","25845469","27311965","27457812","30847200","31164858"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["syndromic intellectual disability MONDO:0000508"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0303"],"biotype":"protein_coding","hgnc_id":"HGNC:19037","gene_name":"microtubule associated serine/threonine kinase family member 4","omim_gene":null,"alias_name":null,"gene_symbol":"MAST4","hgnc_symbol":"MAST4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:65892176-66465423","ensembl_id":"ENSG00000069020"}},"GRch38":{"90":{"location":"5:66596361-67169595","ensembl_id":"ENSG00000069020"}}},"hgnc_date_symbol_changed":"2004-12-06"},"entity_type":"gene","entity_name":"MAST4","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["36910266","33057194"],"evidence":["Expert Review Green","Literature"],"phenotypes":["neurodevelopmental disorder MONDO:0700092, MAST4-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ZKSCAN17","MGC15548","ZSCAN49"],"biotype":"protein_coding","hgnc_id":"HGNC:23713","gene_name":"zinc finger protein 496","omim_gene":["613911"],"alias_name":null,"gene_symbol":"ZNF496","hgnc_symbol":"ZNF496","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:247460714-247495148","ensembl_id":"ENSG00000162714"}},"GRch38":{"90":{"location":"1:247297412-247331846","ensembl_id":"ENSG00000162714"}}},"hgnc_date_symbol_changed":"2003-12-03"},"entity_type":"gene","entity_name":"ZNF496","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40806714"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, ZNF496-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["AGAT"],"biotype":"protein_coding","hgnc_id":"HGNC:4175","gene_name":"glycine amidinotransferase","omim_gene":["602360"],"alias_name":["L-arginine:glycine amidinotransferase"],"gene_symbol":"GATM","hgnc_symbol":"GATM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:45653322-45694525","ensembl_id":"ENSG00000171766"}},"GRch38":{"90":{"location":"15:45361124-45402327","ensembl_id":"ENSG00000171766"}}},"hgnc_date_symbol_changed":"1998-02-20"},"entity_type":"gene","entity_name":"GATM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12468279","20682460","22386973"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Cerebral creatine deficiency syndrome 3, MIM# 612718"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ttv"],"biotype":"protein_coding","hgnc_id":"HGNC:3512","gene_name":"exostosin glycosyltransferase 1","omim_gene":["608177"],"alias_name":["Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase","N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"],"gene_symbol":"EXT1","hgnc_symbol":"EXT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:118806729-119124092","ensembl_id":"ENSG00000182197"}},"GRch38":{"90":{"location":"8:117794490-118111853","ensembl_id":"ENSG00000182197"}}},"hgnc_date_symbol_changed":"1993-05-04"},"entity_type":"gene","entity_name":"EXT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Illumina TruGenome Clinical Sequencing Services","UKGTN","Radboud University Medical Center, Nijmegen","Expert Review Green","NHS GMS","Expert list","Emory Genetics Laboratory"],"phenotypes":["trichorhinophalangeal syndrome type 2 -150230","Exostoses, multiple, type  13370","Exostoses, multiple, type 1\t133700"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["B3GTL","B3Glc-T"],"biotype":"protein_coding","hgnc_id":"HGNC:20207","gene_name":"beta 3-glucosyltransferase","omim_gene":["610308"],"alias_name":["beta-1,3-glucosyltransferase"],"gene_symbol":"B3GLCT","hgnc_symbol":"B3GLCT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:31774073-31906413","ensembl_id":"ENSG00000187676"}},"GRch38":{"90":{"location":"13:31199936-31332276","ensembl_id":"ENSG00000187676"}}},"hgnc_date_symbol_changed":"2015-06-04"},"entity_type":"gene","entity_name":"B3GLCT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23889335","16909395"],"evidence":["Expert Review Green","Expert Review Green","Expert Review","Victorian Clinical Genetics Services"],"phenotypes":["Peters-plus syndrome 261540","O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)"],"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":["KIAA0356"],"biotype":"protein_coding","hgnc_id":"HGNC:29017","gene_name":"pleckstrin homology and RUN domain containing M1","omim_gene":["611466"],"alias_name":null,"gene_symbol":"PLEKHM1","hgnc_symbol":"PLEKHM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:43513266-43568115","ensembl_id":"ENSG00000225190"}},"GRch38":{"90":{"location":"17:45435900-45490749","ensembl_id":"ENSG00000225190"}}},"hgnc_date_symbol_changed":"2004-02-27"},"entity_type":"gene","entity_name":"PLEKHM1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["17997709","17404618","27291868"],"evidence":["Expert Review Green","Expert Review Red","UKGTN","Radboud University Medical Center, Nijmegen","NHS GMS","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Osteopetrosis, autosomal recessive 6 - 611497","Osteopetrosis, autosomal recessive 6 611497","Osteopetrosis, autosomal dominant 3 - 618107"],"mode_of_inheritance":"BOTH monoallelic and 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":["Car2","CA-II","CAII"],"biotype":"protein_coding","hgnc_id":"HGNC:1373","gene_name":"carbonic anhydrase 2","omim_gene":["611492"],"alias_name":null,"gene_symbol":"CA2","hgnc_symbol":"CA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:86376081-86393722","ensembl_id":"ENSG00000104267"}},"GRch38":{"90":{"location":"8:85463852-85481493","ensembl_id":"ENSG00000104267"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review Green","NHS GMS","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730"],"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":["HVSP41"],"biotype":"protein_coding","hgnc_id":"HGNC:12713","gene_name":"VPS41, HOPS complex subunit","omim_gene":["605485"],"alias_name":null,"gene_symbol":"VPS41","hgnc_symbol":"VPS41","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:38762563-38971994","ensembl_id":"ENSG00000006715"}},"GRch38":{"90":{"location":"7:38722963-38932394","ensembl_id":"ENSG00000006715"}}},"hgnc_date_symbol_changed":"2000-01-31"},"entity_type":"gene","entity_name":"VPS41","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32808683","33764426"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spinocerebellar ataxia-29 (SCAR29), MIM#619389","Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ11856","PAR1","GPCR41","D15Ertd747e","RFVT2","hRFT3"],"biotype":"protein_coding","hgnc_id":"HGNC:30224","gene_name":"solute carrier family 52 member 2","omim_gene":["607882"],"alias_name":null,"gene_symbol":"SLC52A2","hgnc_symbol":"SLC52A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:145577795-145584932","ensembl_id":"ENSG00000185803"}},"GRch38":{"90":{"location":"8:144354135-144361272","ensembl_id":"ENSG00000185803"}}},"hgnc_date_symbol_changed":"2012-02-29"},"entity_type":"gene","entity_name":"SLC52A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Bwon-Vialetto-Van Laere syndrome 2, 614707"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TBP1","TBP-1"],"biotype":"protein_coding","hgnc_id":"HGNC:9549","gene_name":"proteasome 26S subunit, ATPase 3","omim_gene":["186852"],"alias_name":null,"gene_symbol":"PSMC3","hgnc_symbol":"PSMC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:47440320-47447993","ensembl_id":"ENSG00000165916"}},"GRch38":{"90":{"location":"11:47418769-47426473","ensembl_id":"ENSG00000165916"}}},"hgnc_date_symbol_changed":"1995-12-06"},"entity_type":"gene","entity_name":"PSMC3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32500975"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Nav1.4","HYPP","SkM1"],"biotype":"protein_coding","hgnc_id":"HGNC:10591","gene_name":"sodium voltage-gated channel alpha subunit 4","omim_gene":["603967"],"alias_name":null,"gene_symbol":"SCN4A","hgnc_symbol":"SCN4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:62015914-62050278","ensembl_id":"ENSG00000007314"}},"GRch38":{"90":{"location":"17:63938554-63972918","ensembl_id":"ENSG00000007314"}}},"hgnc_date_symbol_changed":"1990-09-30"},"entity_type":"gene","entity_name":"SCN4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23801527","28779239","32978841"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Paramyotonia congenita, 168300","Myotonia congenita, atypical, acetazolamide-responsive, 608390","Hypokalemic periodic paralysis, type 2, 613345","Myasthenic syndrome, congenital, 16, 614198","Hyperkalemic periodic paralysis, type 2, 170500"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3084,"hash_id":null,"name":"Rhabdomyolysis and Metabolic Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nDepending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.46","version_created":"2026-03-31T19:05:14.301918+11:00","relevant_disorders":["Rhabdomyolysis","HP:0003201;Exercise intolerance","HP:0003546;Metabolic myopathy","MONDO:0020123"],"stats":{"number_of_genes":124,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SLSN4","KIAA0673","POC10"],"biotype":"protein_coding","hgnc_id":"HGNC:19104","gene_name":"nephrocystin 4","omim_gene":["607215"],"alias_name":["nephroretinin","POC10 centriolar protein homolog (Chlamydomonas)"],"gene_symbol":"NPHP4","hgnc_symbol":"NPHP4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:5922871-6052533","ensembl_id":"ENSG00000131697"}},"GRch38":{"90":{"location":"1:5862811-5992473","ensembl_id":"ENSG00000131697"}}},"hgnc_date_symbol_changed":"2002-10-03"},"entity_type":"gene","entity_name":"NPHP4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","RetNet","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.256","version_created":"2026-03-31T19:05:29.271183+11:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":138,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ARFL3"],"biotype":"protein_coding","hgnc_id":"HGNC:694","gene_name":"ADP ribosylation factor like GTPase 3","omim_gene":["604695"],"alias_name":null,"gene_symbol":"ARL3","hgnc_symbol":"ARL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:104433488-104474164","ensembl_id":"ENSG00000138175"}},"GRch38":{"90":{"location":"10:102673731-102714407","ensembl_id":"ENSG00000138175"}}},"hgnc_date_symbol_changed":"1994-04-14"},"entity_type":"gene","entity_name":"ARL3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30269812","16565502"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Joubert syndrome 35 MIM#618161"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.256","version_created":"2026-03-31T19:05:29.271183+11:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":138,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RING10","D6S216E","PSMB5i","beta5i"],"biotype":"protein_coding","hgnc_id":"HGNC:9545","gene_name":"proteasome subunit beta 8","omim_gene":["177046"],"alias_name":null,"gene_symbol":"PSMB8","hgnc_symbol":"PSMB8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:32808494-32812480","ensembl_id":"ENSG00000204264"}},"GRch38":{"90":{"location":"6:32840717-32844703","ensembl_id":"ENSG00000204264"}}},"hgnc_date_symbol_changed":"1992-06-25"},"entity_type":"gene","entity_name":"PSMB8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 (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":["DXS1272E","XE169"],"biotype":"protein_coding","hgnc_id":"HGNC:11114","gene_name":"lysine demethylase 5C","omim_gene":["314690"],"alias_name":null,"gene_symbol":"KDM5C","hgnc_symbol":"KDM5C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:53220503-53254604","ensembl_id":"ENSG00000126012"}},"GRch38":{"90":{"location":"X:53191321-53225422","ensembl_id":"ENSG00000126012"}}},"hgnc_date_symbol_changed":"2009-04-06"},"entity_type":"gene","entity_name":"KDM5C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["EIF2Bdelta","EIF-2B","DKFZP586J0119","EIF2B"],"biotype":"protein_coding","hgnc_id":"HGNC:3260","gene_name":"eukaryotic translation initiation factor 2B subunit delta","omim_gene":["606687"],"alias_name":null,"gene_symbol":"EIF2B4","hgnc_symbol":"EIF2B4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:27587219-27593353","ensembl_id":"ENSG00000115211"}},"GRch38":{"90":{"location":"2:27364352-27370486","ensembl_id":"ENSG00000115211"}}},"hgnc_date_symbol_changed":"1998-10-16"},"entity_type":"gene","entity_name":"EIF2B4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital","Expert list"],"phenotypes":["Ovarioleukodystrophy 603896"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.414","version_created":"2026-04-13T17:24:24.650771+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SDR22E1","CI-39k"],"biotype":"protein_coding","hgnc_id":"HGNC:7693","gene_name":"NADH:ubiquinone oxidoreductase subunit A9","omim_gene":["603834"],"alias_name":["short chain dehydrogenase/reductase family 22E, member 1","complex I 39kDa subunit"],"gene_symbol":"NDUFA9","hgnc_symbol":"NDUFA9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:4758261-4798454","ensembl_id":"ENSG00000139180"}},"GRch38":{"90":{"location":"12:4649095-4694317","ensembl_id":"ENSG00000139180"}}},"hgnc_date_symbol_changed":"1997-12-17"},"entity_type":"gene","entity_name":"NDUFA9","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["28671271","22114105"],"evidence":["MetBioNet","Expert Review Red","NHS GMS"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 26, 618247"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11877","gene_name":"transmembrane protease, serine 3","omim_gene":["605511"],"alias_name":null,"gene_symbol":"TMPRSS3","hgnc_symbol":"TMPRSS3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:43791999-43816955","ensembl_id":"ENSG00000160183"}},"GRch38":{"90":{"location":"21:42371890-42396846","ensembl_id":"ENSG00000160183"}}},"hgnc_date_symbol_changed":"2000-05-17"},"entity_type":"gene","entity_name":"TMPRSS3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Deafness, autosomal recessive"],"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":["CATCH22"],"biotype":"protein_coding","hgnc_id":"HGNC:11592","gene_name":"T-box 1","omim_gene":["602054"],"alias_name":null,"gene_symbol":"TBX1","hgnc_symbol":"TBX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:19744226-19771116","ensembl_id":"ENSG00000184058"}},"GRch38":{"90":{"location":"22:19756703-19783593","ensembl_id":"ENSG00000184058"}}},"hgnc_date_symbol_changed":"1997-05-15"},"entity_type":"gene","entity_name":"TBX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["DiGeorge syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["C(27)-3BETA-HSD","SDR11E3"],"biotype":"protein_coding","hgnc_id":"HGNC:18324","gene_name":"hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7","omim_gene":["607764"],"alias_name":["short chain dehydrogenase/reductase family 11E, member 3"],"gene_symbol":"HSD3B7","hgnc_symbol":"HSD3B7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:30996519-31000473","ensembl_id":"ENSG00000099377"}},"GRch38":{"90":{"location":"16:30985207-30989152","ensembl_id":"ENSG00000099377"}}},"hgnc_date_symbol_changed":"2003-01-13"},"entity_type":"gene","entity_name":"HSD3B7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["3 beta-hydroxysteroid dehydrogenase 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":["HK33","D1S2223E","PMP1","PMPI","PXMP1"],"biotype":"protein_coding","hgnc_id":"HGNC:9713","gene_name":"peroxisomal biogenesis factor 19","omim_gene":["600279"],"alias_name":["housekeeping gene, 33kD"],"gene_symbol":"PEX19","hgnc_symbol":"PEX19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:160246602-160256138","ensembl_id":"ENSG00000162735"}},"GRch38":{"90":{"location":"1:160276812-160286348","ensembl_id":"ENSG00000162735"}}},"hgnc_date_symbol_changed":"2004-03-19"},"entity_type":"gene","entity_name":"PEX19","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Zellweger syndrome"],"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":["CT-1","CT1"],"biotype":"protein_coding","hgnc_id":"HGNC:2499","gene_name":"cardiotrophin 1","omim_gene":["600435"],"alias_name":null,"gene_symbol":"CTF1","hgnc_symbol":"CTF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:30907928-30914881","ensembl_id":"ENSG00000150281"}},"GRch38":{"90":{"location":"16:30896607-30903560","ensembl_id":"ENSG00000150281"}}},"hgnc_date_symbol_changed":"1995-05-01"},"entity_type":"gene","entity_name":"CTF1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Cardiomyopathy, dilated"],"mode_of_inheritance":"Unknown","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":["FHM2"],"biotype":"protein_coding","hgnc_id":"HGNC:800","gene_name":"ATPase Na+/K+ transporting subunit alpha 2","omim_gene":["182340"],"alias_name":["sodium/potassium-transporting ATPase subunit alpha-2","sodium pump subunit alpha-2","sodium-potassium ATPase catalytic subunit alpha-2"],"gene_symbol":"ATP1A2","hgnc_symbol":"ATP1A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:160085549-160113381","ensembl_id":"ENSG00000018625"}},"GRch38":{"90":{"location":"1:160115759-160143591","ensembl_id":"ENSG00000018625"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"ATP1A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Hemiplegic migraine"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["B3GTL","B3Glc-T"],"biotype":"protein_coding","hgnc_id":"HGNC:20207","gene_name":"beta 3-glucosyltransferase","omim_gene":["610308"],"alias_name":["beta-1,3-glucosyltransferase"],"gene_symbol":"B3GLCT","hgnc_symbol":"B3GLCT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:31774073-31906413","ensembl_id":"ENSG00000187676"}},"GRch38":{"90":{"location":"13:31199936-31332276","ensembl_id":"ENSG00000187676"}}},"hgnc_date_symbol_changed":"2015-06-04"},"entity_type":"gene","entity_name":"B3GLCT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Peters-Plus syndrome"],"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":["PFK-1","PPP1R122"],"biotype":"protein_coding","hgnc_id":"HGNC:8877","gene_name":"phosphofructokinase, muscle","omim_gene":["610681"],"alias_name":["protein phosphatase 1, regulatory subunit 122"],"gene_symbol":"PFKM","hgnc_symbol":"PFKM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:48498922-48540187","ensembl_id":"ENSG00000152556"}},"GRch38":{"90":{"location":"12:48105139-48146404","ensembl_id":"ENSG00000152556"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PFKM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7513946","2140573","24427140","27066546","30792690"],"evidence":["Expert Review Green","Yorkshire and North East GLH","NHS GMS","Wessex and West Midlands GLH","North West GLH","London South GLH"],"phenotypes":["Glycogen storage disease VII, MIM# 232800"],"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":null},{"gene_data":{"alias":["MGC23980","DENNL72"],"biotype":"protein_coding","hgnc_id":"HGNC:28337","gene_name":"chromosome 9 open reading frame 72","omim_gene":["614260"],"alias_name":null,"gene_symbol":"C9orf72","hgnc_symbol":"C9orf72","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:27546544-27573864","ensembl_id":"ENSG00000147894"}},"GRch38":{"90":{"location":"9:27546545-27573866","ensembl_id":"ENSG00000147894"}}},"hgnc_date_symbol_changed":"2004-01-06"},"entity_type":"gene","entity_name":"C9orf72","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NSW Health Pathology","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3437,"hash_id":null,"name":"Incidentalome_PREGEN_DRAFT","disease_group":"","disease_sub_group":"","description":"Imported to facilitate update work. Do not use while labeled as DRAFT","status":"public","version":"0.43","version_created":"2021-01-20T16:42:09.286633+11:00","relevant_disorders":[],"stats":{"number_of_genes":173,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6716","gene_name":"latent transforming growth factor beta binding protein 3","omim_gene":["602090"],"alias_name":null,"gene_symbol":"LTBP3","hgnc_symbol":"LTBP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65306276-65326401","ensembl_id":"ENSG00000168056"}},"GRch38":{"90":{"location":"11:65538805-65558930","ensembl_id":"ENSG00000168056"}}},"hgnc_date_symbol_changed":"1995-05-11"},"entity_type":"gene","entity_name":"LTBP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Geleophysic dysplasia 3 617809","Dental anomalies and short stature 610216"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["hCG_1645727","NEM6"],"biotype":"protein_coding","hgnc_id":"HGNC:37227","gene_name":"kelch repeat and BTB domain containing 13","omim_gene":["613727"],"alias_name":["nemaline myopathy type 6"],"gene_symbol":"KBTBD13","hgnc_symbol":"KBTBD13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:65369154-65372276","ensembl_id":"ENSG00000234438"}},"GRch38":{"90":{"location":"15:65076816-65078192","ensembl_id":"ENSG00000234438"}}},"hgnc_date_symbol_changed":"2010-01-25"},"entity_type":"gene","entity_name":"KBTBD13","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["11731279","21104864"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Nemaline myopathy 6, autosomal dominant (MIM#609273)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ22490","CSPP","JBTS21"],"biotype":"protein_coding","hgnc_id":"HGNC:26193","gene_name":"centrosome and spindle pole associated protein 1","omim_gene":["611654"],"alias_name":null,"gene_symbol":"CSPP1","hgnc_symbol":"CSPP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:67974661-68108498","ensembl_id":"ENSG00000104218"}},"GRch38":{"90":{"location":"8:67062426-67196263","ensembl_id":"ENSG00000104218"}}},"hgnc_date_symbol_changed":"2005-09-06"},"entity_type":"gene","entity_name":"CSPP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24360808","24360803","24360807","25997910"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services","Melbourne Genomics Health Alliance Perinatal Autopsy Flagship"],"phenotypes":["Joubert syndrome 21, MIM# 615636","MONDO:0014288"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BARK1"],"biotype":"protein_coding","hgnc_id":"HGNC:289","gene_name":"G protein-coupled receptor kinase 2","omim_gene":["109635"],"alias_name":null,"gene_symbol":"GRK2","hgnc_symbol":"GRK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:67033881-67054027","ensembl_id":"ENSG00000173020"}},"GRch38":{"90":{"location":"11:67266410-67286556","ensembl_id":"ENSG00000173020"}}},"hgnc_date_symbol_changed":"2016-05-16"},"entity_type":"gene","entity_name":"GRK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33200460","38647386"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1915"],"biotype":"protein_coding","hgnc_id":"HGNC:29401","gene_name":"Myb like, SWIRM and MPN domains 1","omim_gene":["612176"],"alias_name":null,"gene_symbol":"MYSM1","hgnc_symbol":"MYSM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:59120411-59165764","ensembl_id":"ENSG00000162601"}},"GRch38":{"90":{"location":"1:58654739-58700092","ensembl_id":"ENSG00000162601"}}},"hgnc_date_symbol_changed":"2005-07-14"},"entity_type":"gene","entity_name":"MYSM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Expert list"],"phenotypes":["Bone marrow failure syndrome 4, MIM#618116"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3829,"hash_id":null,"name":"IBMDx study","disease_group":"","disease_sub_group":"","description":"The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2,  BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.","status":"public","version":"0.42","version_created":"2026-03-19T18:45:41.236506+11:00","relevant_disorders":[],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Research","slug":"research","description":"Research panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RALDH3"],"biotype":"protein_coding","hgnc_id":"HGNC:409","gene_name":"aldehyde dehydrogenase 1 family member A3","omim_gene":["600463"],"alias_name":["retinaldehyde dehydrogenase 3"],"gene_symbol":"ALDH1A3","hgnc_symbol":"ALDH1A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:101417919-101456831","ensembl_id":"ENSG00000184254"}},"GRch38":{"90":{"location":"15:100877714-100916626","ensembl_id":"ENSG00000184254"}}},"hgnc_date_symbol_changed":"1994-07-07"},"entity_type":"gene","entity_name":"ALDH1A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23312594","30200890"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Microphthalmia, isolated 8, 615113 (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":["FLJ12643"],"biotype":"protein_coding","hgnc_id":"HGNC:25740","gene_name":"centrosomal protein 78","omim_gene":["617110"],"alias_name":null,"gene_symbol":"CEP78","hgnc_symbol":"CEP78","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:80850978-80894606","ensembl_id":"ENSG00000148019"}},"GRch38":{"90":{"location":"9:78236062-78279690","ensembl_id":"ENSG00000148019"}}},"hgnc_date_symbol_changed":"2005-12-01"},"entity_type":"gene","entity_name":"CEP78","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["35240912"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Cone-rod dystrophy and hearing loss, MIM#617236"],"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":["CX47","CX46.6","SPG44"],"biotype":"protein_coding","hgnc_id":"HGNC:17494","gene_name":"gap junction protein gamma 2","omim_gene":["608803"],"alias_name":["connexin 47"],"gene_symbol":"GJC2","hgnc_symbol":"GJC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:228337553-228347527","ensembl_id":"ENSG00000198835"}},"GRch38":{"90":{"location":"1:228149852-228159826","ensembl_id":"ENSG00000198835"}}},"hgnc_date_symbol_changed":"2007-11-06"},"entity_type":"gene","entity_name":"GJC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19056803","31431325","25059390","20537300","21266381","15192806","18094336","22669416","24374284","15192806"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leukodystrophy, hypomyelinating, 2, 608804 (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":[],"biotype":"protein_coding","hgnc_id":"HGNC:17870","gene_name":"inversin","omim_gene":["243305"],"alias_name":["nephrocystin 2"],"gene_symbol":"INVS","hgnc_symbol":"INVS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:102861538-103063282","ensembl_id":"ENSG00000119509"}},"GRch38":{"90":{"location":"9:100099256-100301000","ensembl_id":"ENSG00000119509"}}},"hgnc_date_symbol_changed":"2002-06-11"},"entity_type":"gene","entity_name":"INVS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Nephronophthisis 2, infantile, (MIM#602088)"],"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":["RGS-PX2"],"biotype":"protein_coding","hgnc_id":"HGNC:14977","gene_name":"sorting nexin 14","omim_gene":["616105"],"alias_name":null,"gene_symbol":"SNX14","hgnc_symbol":"SNX14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:86215214-86303874","ensembl_id":"ENSG00000135317"}},"GRch38":{"90":{"location":"6:85505496-85594156","ensembl_id":"ENSG00000135317"}}},"hgnc_date_symbol_changed":"2003-09-04"},"entity_type":"gene","entity_name":"SNX14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25439728","25848753","27913285","24501761"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 20 MIM#616354"],"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":["CGI-18","ASC1p50","Em:AC022392.3"],"biotype":"protein_coding","hgnc_id":"HGNC:24268","gene_name":"activating signal cointegrator 1 complex subunit 1","omim_gene":["614215"],"alias_name":null,"gene_symbol":"ASCC1","hgnc_symbol":"ASCC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:73856278-73976892","ensembl_id":"ENSG00000138303"}},"GRch38":{"90":{"location":"10:72096032-72217134","ensembl_id":"ENSG00000138303"}}},"hgnc_date_symbol_changed":"2004-03-17"},"entity_type":"gene","entity_name":"ASCC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30327447","12077347","26924529","31880396","26503956"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Spinal muscular atrophy with congenital bone fractures 2, MIM#616867","spinal muscular atrophy with congenital bone fractures 2 MONDO:0014807"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:362","gene_name":"adenylate kinase 2","omim_gene":["103020"],"alias_name":null,"gene_symbol":"AK2","hgnc_symbol":"AK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:33473585-33546597","ensembl_id":"ENSG00000004455"}},"GRch38":{"90":{"location":"1:33007940-33080996","ensembl_id":"ENSG00000004455"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"AK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19043416","19043417"],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Reticular dysgenesis, MIM# 267500","MONDO:0009973"],"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":null},{"gene_data":{"alias":["PH2"],"biotype":"protein_coding","hgnc_id":"HGNC:4570","gene_name":"glyoxylate and hydroxypyruvate reductase","omim_gene":["604296"],"alias_name":["primary hyperoxaluria type 2"],"gene_symbol":"GRHPR","hgnc_symbol":"GRHPR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:37422663-37436987","ensembl_id":"ENSG00000137106"}},"GRch38":{"90":{"location":"9:37422666-37436990","ensembl_id":"ENSG00000137106"}}},"hgnc_date_symbol_changed":"1999-03-26"},"entity_type":"gene","entity_name":"GRHPR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11030416","24116921","10484776"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hyperoxaluria, primary, type II, MIM# 260000","MONDO:0009824"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12014","gene_name":"thiopurine S-methyltransferase","omim_gene":["187680"],"alias_name":null,"gene_symbol":"TPMT","hgnc_symbol":"TPMT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:18128542-18155305","ensembl_id":"ENSG00000137364"}},"GRch38":{"90":{"location":"6:18128311-18155074","ensembl_id":"ENSG00000137364"}}},"hgnc_date_symbol_changed":"1993-08-25"},"entity_type":"gene","entity_name":"TPMT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Thiopurines, poor metabolism of, 1 MIM# 610460"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CI-13kA"],"biotype":"protein_coding","hgnc_id":"HGNC:7713","gene_name":"NADH:ubiquinone oxidoreductase subunit S6","omim_gene":["603848"],"alias_name":["complex I 13kDa subunit A","NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial"],"gene_symbol":"NDUFS6","hgnc_symbol":"NDUFS6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1801514-1816719","ensembl_id":"ENSG00000145494"}},"GRch38":{"90":{"location":"5:1801400-1816605","ensembl_id":"ENSG00000145494"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"NDUFS6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15372108","19259137","30948790"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 9 (MIM#618232)"],"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}]}