{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=324","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=322","results":[{"gene_data":{"alias":["JV15-2","HsT17436"],"biotype":"protein_coding","hgnc_id":"HGNC:6769","gene_name":"SMAD family member 3","omim_gene":["603109"],"alias_name":null,"gene_symbol":"SMAD3","hgnc_symbol":"SMAD3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:67356101-67487533","ensembl_id":"ENSG00000166949"}},"GRch38":{"90":{"location":"15:67063763-67195195","ensembl_id":"ENSG00000166949"}}},"hgnc_date_symbol_changed":"2004-05-26"},"entity_type":"gene","entity_name":"SMAD3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21217753","30661052"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Loeys-Dietz syndrome 3, MIM# 613795"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":44,"hash_id":null,"name":"Aortopathy_Connective Tissue Disorders","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt contains genes that cause isolated thoracic aortic aneurysm; connective tissue disorders, including Ehlers Danlos syndromes and cutis laxa; and other syndromic/multi-system disorders where connective tissue involvement is prominent.\r\n\r\nThis panel incorporates assessments from the ClinGen Familial Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel (PMID: 30071989) and the  \r\nThe 2017 international classification of the Ehlers-Danlos syndromes (PMID: 28306229).\r\n\r\nThe panel has been compared against the Genomics England PanelApp 'Thoracic Aortic Aneurysm and Dissection' and 'Ehlers Danlos syndrome' panels, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England.\r\n\r\nFurther comparison and consolidation undertaken against the Genomics England/GMS 'Thoracic aortic aneurysm and dissection' panel V4.0 in July 2025.","status":"public","version":"1.105","version_created":"2026-02-05T18:09:24.690760+11:00","relevant_disorders":["Aortic aneurysm","HP:0004942;Joint dislocation","HP:0001373;Cutis laxa","HP:0000973; Ectopia lentis","HP:0001083;Arachnodactyly","HP:0001166"],"stats":{"number_of_genes":100,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KLHL6","SBBI26","RP42"],"biotype":"protein_coding","hgnc_id":"HGNC:15646","gene_name":"kelch like family member 7","omim_gene":["611119"],"alias_name":["retinitis pigmentosa 42"],"gene_symbol":"KLHL7","hgnc_symbol":"KLHL7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:23145353-23217533","ensembl_id":"ENSG00000122550"}},"GRch38":{"90":{"location":"7:23105758-23177914","ensembl_id":"ENSG00000122550"}}},"hgnc_date_symbol_changed":"2002-05-21"},"entity_type":"gene","entity_name":"KLHL7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27392078","30142437","29074562"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["PERCHING syndrome, MIM# 617055"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MAG","EM9","MGC102762","MGC126218","MGC126219","TFIIH"],"biotype":"protein_coding","hgnc_id":"HGNC:3434","gene_name":"ERCC excision repair 2, TFIIH core complex helicase subunit","omim_gene":["126340"],"alias_name":["excision repair cross-complementing rodent repair deficiency, complementation group 2 protein","TFIIH basal transcription factor complex helicase XPB subunit"],"gene_symbol":"ERCC2","hgnc_symbol":"ERCC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:45853095-45874176","ensembl_id":"ENSG00000104884"}},"GRch38":{"90":{"location":"19:45349837-45370918","ensembl_id":"ENSG00000104884"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ERCC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33369099","32557569","25716912"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cerebrooculofacioskeletal syndrome 2, MIM#\t610756"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HG20","GABABR2","GPRC3B"],"biotype":"protein_coding","hgnc_id":"HGNC:4507","gene_name":"gamma-aminobutyric acid type B receptor subunit 2","omim_gene":["607340"],"alias_name":null,"gene_symbol":"GABBR2","hgnc_symbol":"GABBR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:101050391-101471479","ensembl_id":"ENSG00000136928"}},"GRch38":{"90":{"location":"9:98288082-98709197","ensembl_id":"ENSG00000136928"}}},"hgnc_date_symbol_changed":"2006-02-16"},"entity_type":"gene","entity_name":"GABBR2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 59, MIM#617904","Neurodevelopmental disorder with poor language and loss of hand skills, MIM#617903"],"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":["KIAA1099","GGAP1"],"biotype":"protein_coding","hgnc_id":"HGNC:16922","gene_name":"ArfGAP with GTPase domain, ankyrin repeat and PH domain 1","omim_gene":["608651"],"alias_name":null,"gene_symbol":"AGAP1","hgnc_symbol":"AGAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:236402733-237040444","ensembl_id":"ENSG00000157985"}},"GRch38":{"90":{"location":"2:235494089-236131800","ensembl_id":"ENSG00000157985"}}},"hgnc_date_symbol_changed":"2008-09-22"},"entity_type":"gene","entity_name":"AGAP1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["31700678","25666757","30472483","36778426"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Cerebral palsy, MONDO:0006497, AGAP1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV"],"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":["DKFZP727C091","MSL1v1","CENP-36","NSL1"],"biotype":"protein_coding","hgnc_id":"HGNC:24565","gene_name":"KAT8 regulatory NSL complex subunit 1","omim_gene":["612452"],"alias_name":["centromere protein 36"],"gene_symbol":"KANSL1","hgnc_symbol":"KANSL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:44107282-44302733","ensembl_id":"ENSG00000120071"}},"GRch38":{"90":{"location":"17:46029916-46225389","ensembl_id":"ENSG00000120071"}}},"hgnc_date_symbol_changed":"2012-02-20"},"entity_type":"gene","entity_name":"KANSL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26306646"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Koolen-De Vries syndrome, MIM# 610443"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV"],"panel":{"id":76,"hash_id":null,"name":"Congenital Heart Defect","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.","status":"public","version":"0.534","version_created":"2026-03-30T13:14:35.719896+11:00","relevant_disorders":["Abnormal heart morphology HP:0001627"],"stats":{"number_of_genes":253,"number_of_strs":1,"number_of_regions":10},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC4093","MKS10"],"biotype":"protein_coding","hgnc_id":"HGNC:28636","gene_name":"B9 domain containing 2","omim_gene":["611951"],"alias_name":null,"gene_symbol":"B9D2","hgnc_symbol":"B9D2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:41860326-41870078","ensembl_id":"ENSG00000123810"}},"GRch38":{"90":{"location":"19:41354421-41364173","ensembl_id":"ENSG00000123810"}}},"hgnc_date_symbol_changed":"2007-08-21"},"entity_type":"gene","entity_name":"B9D2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26092869","21763481","32726168"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 34, MIM# 614175","Meckel syndrome 10, MIM# 614175"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":84,"hash_id":null,"name":"Ciliopathies","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GRF-1","p190ARhoGAP","P190A","KIAA1722","p190RhoGAP"],"biotype":"protein_coding","hgnc_id":"HGNC:4591","gene_name":"Rho GTPase activating protein 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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":"1.47","version_created":"2026-04-06T10:50:25.990411+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":141,"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":[]},{"gene_data":{"alias":["OCRL1"],"biotype":"protein_coding","hgnc_id":"HGNC:8108","gene_name":"OCRL, inositol polyphosphate-5-phosphatase","omim_gene":["300535"],"alias_name":null,"gene_symbol":"OCRL","hgnc_symbol":"OCRL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:128673826-128726538","ensembl_id":"ENSG00000122126"}},"GRch38":{"90":{"location":"X:129539849-129592561","ensembl_id":"ENSG00000122126"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"OCRL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Lowe syndrome, MIM#\t309000"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":105,"hash_id":null,"name":"Glaucoma congenital","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Glaucoma (developmental)' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England, 7/8/2020.","status":"public","version":"1.12","version_created":"2026-04-07T13:50:17.268940+10:00","relevant_disorders":["Glaucoma","HP:0000501"],"stats":{"number_of_genes":28,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ11222","SPATA40"],"biotype":"protein_coding","hgnc_id":"HGNC:29636","gene_name":"meiosis specific nuclear structural 1","omim_gene":["610766"],"alias_name":["spermatogenesis associated 40"],"gene_symbol":"MNS1","hgnc_symbol":"MNS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:56713742-56757335","ensembl_id":"ENSG00000138587"}},"GRch38":{"90":{"location":"15:56421544-56465137","ensembl_id":"ENSG00000138587"}}},"hgnc_date_symbol_changed":"2005-07-20"},"entity_type":"gene","entity_name":"MNS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31534215","30148830"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Heterotaxy","male infertility","Heterotaxy, visceral, 9, autosomal, with male infertility, MIM#\t618948"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":108,"hash_id":null,"name":"Heterotaxy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Laterality disorders and isomerism' panel V1.19, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.45","version_created":"2026-03-17T16:09:39.911604+11:00","relevant_disorders":["Heterotaxy","HP:0030853; Dextrocardia","HP:0001651; Asplenia","HP:0001746; Abnormal spatial orientation of cardiac segments","HP:0011534; Polysplenia","HP:0001748;Midline liver","HP:0034188"],"stats":{"number_of_genes":67,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MAK","KIAA1330","Midori"],"biotype":"protein_coding","hgnc_id":"HGNC:17574","gene_name":"alpha kinase 3","omim_gene":["617608"],"alias_name":["myocyte induction differentiation originator","muscle alpha-kinase"],"gene_symbol":"ALPK3","hgnc_symbol":"ALPK3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:85359911-85416713","ensembl_id":"ENSG00000136383"}},"GRch38":{"90":{"location":"15:84816680-84873482","ensembl_id":"ENSG00000136383"}}},"hgnc_date_symbol_changed":"2004-12-01"},"entity_type":"gene","entity_name":"ALPK3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26846950","27106955","32480058","34263907","35783621"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cardiomyopathy, familial hypertrophic 27, MIM#\t618052"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":111,"hash_id":null,"name":"Hypertrophic cardiomyopathy","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes associated with hypertrophic cardiomyopathy or isolated left ventricular hypertrophy (including sarcomere, sarcomere-associated and syndromic conditions), typically with onset in adolescence or adulthood. For early-onset hypertrophic 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 was developed by VCGS and is maintained by VCGS and RMH. It has been compared against the Genomics England 'Hypertrophic Cardiomyopathy  - teen and adult' panel and incorporates gene-disease validity assessments by the ClinGen HCM working group (PMID: 30681346), 5/8/2020 and Hereditary Cardiovascular Disorders Gene Curation Expert Panel (PMID: 39132495).","status":"public","version":"1.25","version_created":"2026-03-11T18:45:28.302854+11:00","relevant_disorders":["Hypertrophic cardiomyopathy","HP:0001639"],"stats":{"number_of_genes":64,"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":["TMEM226"],"biotype":"protein_coding","hgnc_id":"HGNC:33778","gene_name":"myomaker, myoblast fusion factor","omim_gene":["615345"],"alias_name":["transmembrane protein 226"],"gene_symbol":"MYMK","hgnc_symbol":"MYMK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:136379708-136393734","ensembl_id":"ENSG00000187616"}},"GRch38":{"90":{"location":"9:133514586-133528612","ensembl_id":"ENSG00000187616"}}},"hgnc_date_symbol_changed":"2017-05-11"},"entity_type":"gene","entity_name":"MYMK","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["28681861"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Carey-Fineman-Ziter syndrome","OMIM #254940"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":115,"hash_id":null,"name":"Hydrocephalus_Ventriculomegaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.","status":"public","version":"0.134","version_created":"2026-01-28T12:49:29.963583+11:00","relevant_disorders":["Hydrocephalus","HP:0000238; Ventriculomegaly","HP:0002119"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11013","gene_name":"solute carrier family 30 member 2","omim_gene":["609617"],"alias_name":null,"gene_symbol":"SLC30A2","hgnc_symbol":"SLC30A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:26363743-26372624","ensembl_id":"ENSG00000158014"}},"GRch38":{"90":{"location":"1:26037252-26046133","ensembl_id":"ENSG00000158014"}}},"hgnc_date_symbol_changed":"1997-12-12"},"entity_type":"gene","entity_name":"SLC30A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17065149","22733820","32278324","30450693","28665435"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Zinc deficiency, transient neonatal , MIM#608118"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HHARP","HARP"],"biotype":"protein_coding","hgnc_id":"HGNC:11102","gene_name":"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1","omim_gene":["606622"],"alias_name":["HepA-related protein","ATP-driven annealing helicase"],"gene_symbol":"SMARCAL1","hgnc_symbol":"SMARCAL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:217277137-217347776","ensembl_id":"ENSG00000138375"}},"GRch38":{"90":{"location":"2:216412414-216483053","ensembl_id":"ENSG00000138375"}}},"hgnc_date_symbol_changed":"2000-02-18"},"entity_type":"gene","entity_name":"SMARCAL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301550","17089404","20036229"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Schimke immune-osseous dysplasia MIM# 242900","T cell deficiency","Short stature","spondyloepiphyseal dysplasia","renal dysfunction","lymphocytopaenia","nephropathy","bacterial/viral/fungal infections","may present as SCID","bone marrow 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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11274","gene_name":"spectrin beta, erythrocytic","omim_gene":["182870"],"alias_name":["spherocytosis, clinical type I"],"gene_symbol":"SPTB","hgnc_symbol":"SPTB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:65213002-65346601","ensembl_id":"ENSG00000070182"}},"GRch38":{"90":{"location":"14:64746283-64879883","ensembl_id":"ENSG00000070182"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"SPTB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19538529","8102379","9075575","7883966","9005995","32256302"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Spherocytosis, type 2 MIM# 616649","Elliptocytosis-3 MIM# 617948","Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HT007"],"biotype":"protein_coding","hgnc_id":"HGNC:30883","gene_name":"transmembrane protein 126B","omim_gene":["615533"],"alias_name":null,"gene_symbol":"TMEM126B","hgnc_symbol":"TMEM126B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:85339629-85347580","ensembl_id":"ENSG00000171204"}},"GRch38":{"90":{"location":"11:85628573-85636539","ensembl_id":"ENSG00000171204"}}},"hgnc_date_symbol_changed":"2006-02-13"},"entity_type":"gene","entity_name":"TMEM126B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27374774","27374773"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2073","gene_name":"tripeptidyl peptidase 1","omim_gene":["607998"],"alias_name":["TPP I"],"gene_symbol":"TPP1","hgnc_symbol":"TPP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:6634000-6640692","ensembl_id":"ENSG00000166340"}},"GRch38":{"90":{"location":"11:6612763-6619461","ensembl_id":"ENSG00000166340"}}},"hgnc_date_symbol_changed":"2004-12-10"},"entity_type":"gene","entity_name":"TPP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9295267","18684116","23418007","26224725","31283065"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 2, MIM# 204500","MONDO:0008769","Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270","MONDO:0012235"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MAT","SAMS","MATA1","SAMS1"],"biotype":"protein_coding","hgnc_id":"HGNC:6903","gene_name":"methionine adenosyltransferase 1A","omim_gene":["610550"],"alias_name":["S-adenosylmethionine synthetase"],"gene_symbol":"MAT1A","hgnc_symbol":"MAT1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:82031576-82049440","ensembl_id":"ENSG00000151224"}},"GRch38":{"90":{"location":"10:80271820-80289684","ensembl_id":"ENSG00000151224"}}},"hgnc_date_symbol_changed":"1997-07-01"},"entity_type":"gene","entity_name":"MAT1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308","7560086"],"evidence":["Expert Review Green","NHS GMS","Victorian Clinical Genetics Services"],"phenotypes":["Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850","Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850","Disorders of the metabolism of sulphur amino acids"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Vma1","VA68"],"biotype":"protein_coding","hgnc_id":"HGNC:851","gene_name":"ATPase H+ transporting V1 subunit A","omim_gene":["607027"],"alias_name":null,"gene_symbol":"ATP6V1A","hgnc_symbol":"ATP6V1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:113465866-113530903","ensembl_id":"ENSG00000114573"}},"GRch38":{"90":{"location":"3:113747019-113812056","ensembl_id":"ENSG00000114573"}}},"hgnc_date_symbol_changed":"2003-04-25"},"entity_type":"gene","entity_name":"ATP6V1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29668857","28065471","33320377"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cutis laxa, autosomal recessive, type IID MIM#617403","Developmental and epileptic encephalopathy 93 MIM#618012"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["VIP-21","LGMD1C","VIP21","LQT9"],"biotype":"protein_coding","hgnc_id":"HGNC:1529","gene_name":"caveolin 3","omim_gene":["601253"],"alias_name":["M-caveolin"],"gene_symbol":"CAV3","hgnc_symbol":"CAV3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:8775486-8883492","ensembl_id":"ENSG00000182533"}},"GRch38":{"90":{"location":"3:8733800-8841808","ensembl_id":"ENSG00000182533"}}},"hgnc_date_symbol_changed":"1998-05-14"},"entity_type":"gene","entity_name":"CAV3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32004987","28807458","27312022","10746614"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Myopathy, distal, Tateyama type MIM#614321","Rippling muscle disease 2 MIM#606072","Creatine phosphokinase, elevated serum MIM#123320"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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The clinical presentations were highly variable, and may include seizures, neurodevelopmental delay, movement disorders, gait abnormalities, hypotonia, autonomic features. Measurement of neurotransmitter metabolites in cerebral spinal fluid (CSF) may be helpful in delineating the metabolic defects.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Neurotransmitter disorders' panel V1.6 with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.8","version_created":"2026-01-09T20:59:22.980216+11:00","relevant_disorders":["Abnormal CSF metabolite concentration","HP:0025454"],"stats":{"number_of_genes":41,"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":["PDXPO"],"biotype":"protein_coding","hgnc_id":"HGNC:30260","gene_name":"pyridoxamine 5'-phosphate oxidase","omim_gene":["603287"],"alias_name":null,"gene_symbol":"PNPO","hgnc_symbol":"PNPO","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:46018872-46025654","ensembl_id":"ENSG00000108439"}},"GRch38":{"90":{"location":"17:47941506-47949308","ensembl_id":"ENSG00000108439"}}},"hgnc_date_symbol_changed":"2004-11-22"},"entity_type":"gene","entity_name":"PNPO","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34769443","33981986","33748042","32888189"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090"],"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":["COQ8","SCAR9"],"biotype":"protein_coding","hgnc_id":"HGNC:16812","gene_name":"coenzyme Q8A","omim_gene":["606980"],"alias_name":["coenzyme Q8 homolog (yeast)"],"gene_symbol":"COQ8A","hgnc_symbol":"COQ8A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:227085237-227175246","ensembl_id":"ENSG00000163050"}},"GRch38":{"90":{"location":"1:226897536-226987545","ensembl_id":"ENSG00000163050"}}},"hgnc_date_symbol_changed":"2016-07-07"},"entity_type":"gene","entity_name":"COQ8A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID 32337771"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Coenzyme Q10 deficiency, primary, 4 MIM#612016"],"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":["INPP5G","PARK20"],"biotype":"protein_coding","hgnc_id":"HGNC:11503","gene_name":"synaptojanin 1","omim_gene":["604297"],"alias_name":["phosphoinositide 5-phosphatase","synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1","inositol polyphosphate-5-phosphatase G"],"gene_symbol":"SYNJ1","hgnc_symbol":"SYNJ1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:34001069-34100359","ensembl_id":"ENSG00000159082"}},"GRch38":{"90":{"location":"21:32628759-32728048","ensembl_id":"ENSG00000159082"}}},"hgnc_date_symbol_changed":"1999-10-14"},"entity_type":"gene","entity_name":"SYNJ1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32435303","27435091","23804563","23804577","27496670","33841314"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Developmental and epileptic encephalopathy 53, MIM# 617389"],"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":["SYNE-1B","KIAA0796","8B","Nesprin-1","enaptin","MYNE1","CPG2","dJ45H2.2","SCAR8","ARCA1","Nesp1"],"biotype":"protein_coding","hgnc_id":"HGNC:17089","gene_name":"spectrin repeat containing nuclear envelope protein 1","omim_gene":["608441"],"alias_name":["myocyte nuclear envelope protein 1","nuclear envelope spectrin repeat-1"],"gene_symbol":"SYNE1","hgnc_symbol":"SYNE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:152442819-152958936","ensembl_id":"ENSG00000131018"}},"GRch38":{"90":{"location":"6:152121684-152637801","ensembl_id":"ENSG00000131018"}}},"hgnc_date_symbol_changed":"2003-02-19"},"entity_type":"gene","entity_name":"SYNE1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31703138","37096302","30573412"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","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":["QCR6","UQCR8"],"biotype":"protein_coding","hgnc_id":"HGNC:12590","gene_name":"ubiquinol-cytochrome c reductase hinge protein","omim_gene":["613844"],"alias_name":["ubiquinol-cytochrome c reductase, complex III subunit VIII"],"gene_symbol":"UQCRH","hgnc_symbol":"UQCRH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:46769303-46782448","ensembl_id":"ENSG00000173660"}},"GRch38":{"90":{"location":"1:46303631-46316776","ensembl_id":"ENSG00000173660"}}},"hgnc_date_symbol_changed":"1993-07-09"},"entity_type":"gene","entity_name":"UQCRH","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["34750991"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Mitochondrial complex III deficiency, nuclear type 11, MIM#620137"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AIF","CMTX4"],"biotype":"protein_coding","hgnc_id":"HGNC:8768","gene_name":"apoptosis inducing factor mitochondria associated 1","omim_gene":["300169"],"alias_name":null,"gene_symbol":"AIFM1","hgnc_symbol":"AIFM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:129263337-129299861","ensembl_id":"ENSG00000156709"}},"GRch38":{"90":{"location":"X:130129362-130165887","ensembl_id":"ENSG00000156709"}}},"hgnc_date_symbol_changed":"2006-11-16"},"entity_type":"gene","entity_name":"AIFM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","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":["CCHL"],"biotype":"protein_coding","hgnc_id":"HGNC:4837","gene_name":"holocytochrome c synthase","omim_gene":["300056"],"alias_name":["cytochrome c heme-lyase"],"gene_symbol":"HCCS","hgnc_symbol":"HCCS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:11129421-11141198","ensembl_id":"ENSG00000004961"}},"GRch38":{"90":{"location":"X:11111301-11123078","ensembl_id":"ENSG00000004961"}}},"hgnc_date_symbol_changed":"1995-09-20"},"entity_type":"gene","entity_name":"HCCS","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:5401","gene_name":"SP110 nuclear body protein","omim_gene":["604457"],"alias_name":null,"gene_symbol":"SP110","hgnc_symbol":"SP110","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:231032009-231090444","ensembl_id":"ENSG00000135899"}},"GRch38":{"90":{"location":"2:230167293-230225729","ensembl_id":"ENSG00000135899"}}},"hgnc_date_symbol_changed":"2001-12-20"},"entity_type":"gene","entity_name":"SP110","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":222,"hash_id":null,"name":"Predominantly Antibody Deficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause predominantly antibody deficiency, including:\r\n- Agammaglobulinemia\r\n- Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia \r\n- CVID Phenotype\r\n- Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype\r\n- Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM\r\n- Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.4","version_created":"2025-09-11T18:11:50.640122+10:00","relevant_disorders":["Decreased immunoglobulin level","HP:0041078"],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["D22S676","D22S750","TC2"],"biotype":"protein_coding","hgnc_id":"HGNC:11653","gene_name":"transcobalamin 2","omim_gene":["613441"],"alias_name":["macrocytic anemia"],"gene_symbol":"TCN2","hgnc_symbol":"TCN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:31002825-31023265","ensembl_id":"ENSG00000185339"}},"GRch38":{"90":{"location":"22:30606838-30627278","ensembl_id":"ENSG00000185339"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"TCN2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32841161","33023511","30124850"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Transcobalamin II deficiency MIM# 275350","Decreased Ig levels","Megaloblastic anaemia","pancytopaenia","if untreated (B12) for prolonged periods results in intellectual disability","failure to thrive","diarrhoea","hypogammaglobulinaemia","pallor","hypotonia","respiratory infection"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":null},{"gene_data":{"alias":["FLJ30681","KIAA1983"],"biotype":"protein_coding","hgnc_id":"HGNC:29426","gene_name":"collagen and calcium binding EGF domains 1","omim_gene":["612753"],"alias_name":null,"gene_symbol":"CCBE1","hgnc_symbol":"CCBE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:57098172-57364612","ensembl_id":"ENSG00000183287"}},"GRch38":{"90":{"location":"18:59430940-59697380","ensembl_id":"ENSG00000183287"}}},"hgnc_date_symbol_changed":"2005-01-18"},"entity_type":"gene","entity_name":"CCBE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19935664","19911200","19287381","25925991","27345729","21778431"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510","lymphangiectasia and lymphoedema","facial abnormalities","dysmorphic features","hypoalbuminaemia","intellectual disability","hypoglobulinaemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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). 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Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0898","POB1","TEF3"],"biotype":"protein_coding","hgnc_id":"HGNC:7523","gene_name":"tripartite motif containing 37","omim_gene":["605073"],"alias_name":["RING-B-box-coiled-coil protein"],"gene_symbol":"TRIM37","hgnc_symbol":"TRIM37","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:57059999-57184282","ensembl_id":"ENSG00000108395"}},"GRch38":{"90":{"location":"17:58982638-59106921","ensembl_id":"ENSG00000108395"}}},"hgnc_date_symbol_changed":"2001-11-30"},"entity_type":"gene","entity_name":"TRIM37","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mulibrey nanism, 253250 (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":["Nav1.5","LQT3","HB1","HBBD","PFHB1","IVF","HB2","HH1","SSS1","CDCD2","CMPD2","ICCD"],"biotype":"protein_coding","hgnc_id":"HGNC:10593","gene_name":"sodium voltage-gated channel alpha subunit 5","omim_gene":["600163"],"alias_name":["long QT syndrome 3"],"gene_symbol":"SCN5A","hgnc_symbol":"SCN5A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:38589548-38691164","ensembl_id":"ENSG00000183873"}},"GRch38":{"90":{"location":"3:38548057-38649673","ensembl_id":"ENSG00000183873"}}},"hgnc_date_symbol_changed":"1992-04-10"},"entity_type":"gene","entity_name":"SCN5A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["doi:10. 1007/ s12265-016-9673-5","24317018"],"evidence":["Expert Review Green","South West GLH","NHS GMS"],"phenotypes":["Dilated cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy","Brugada syndrome","Cardiomyopathy, dilated, 1E","Long QT syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["MI","bHLHe32"],"biotype":"protein_coding","hgnc_id":"HGNC:7105","gene_name":"melanogenesis associated transcription factor","omim_gene":["156845"],"alias_name":["homolog of mouse microphthalmia"],"gene_symbol":"MITF","hgnc_symbol":"MITF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:69788586-70017488","ensembl_id":"ENSG00000187098"}},"GRch38":{"90":{"location":"3:69739435-69968337","ensembl_id":"ENSG00000187098"}}},"hgnc_date_symbol_changed":"1993-10-27"},"entity_type":"gene","entity_name":"MITF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Waardenburg 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":["FER1L2","DFNB6"],"biotype":"protein_coding","hgnc_id":"HGNC:8515","gene_name":"otoferlin","omim_gene":["603681"],"alias_name":["fer-1-like family member 2"],"gene_symbol":"OTOF","hgnc_symbol":"OTOF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:26680071-26781566","ensembl_id":"ENSG00000115155"}},"GRch38":{"90":{"location":"2:26457203-26558698","ensembl_id":"ENSG00000115155"}}},"hgnc_date_symbol_changed":"1999-03-31"},"entity_type":"gene","entity_name":"OTOF","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":["FLJ20477"],"biotype":"protein_coding","hgnc_id":"HGNC:26031","gene_name":"phosphatidylinositol glycan anchor biosynthesis class V","omim_gene":["610274"],"alias_name":["GPI mannosyltransferase 2","dol-P-Man dependent GPI mannosyltransferase"],"gene_symbol":"PIGV","hgnc_symbol":"PIGV","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:27113963-27124889","ensembl_id":"ENSG00000060642"}},"GRch38":{"90":{"location":"1:26787472-26798398","ensembl_id":"ENSG00000060642"}}},"hgnc_date_symbol_changed":"2005-01-10"},"entity_type":"gene","entity_name":"PIGV","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24129430","21739589"],"evidence":["Expert Review Green"],"phenotypes":["HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1","HPMRS1"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TMEM226"],"biotype":"protein_coding","hgnc_id":"HGNC:33778","gene_name":"myomaker, myoblast fusion factor","omim_gene":["615345"],"alias_name":["transmembrane protein 226"],"gene_symbol":"MYMK","hgnc_symbol":"MYMK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:136379708-136393734","ensembl_id":"ENSG00000187616"}},"GRch38":{"90":{"location":"9:133514586-133528612","ensembl_id":"ENSG00000187616"}}},"hgnc_date_symbol_changed":"2017-05-11"},"entity_type":"gene","entity_name":"MYMK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28681861","29560417"],"evidence":["Expert Review Green","Other"],"phenotypes":["Carey-Fineman-Ziter syndrome, MIM 254940"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":3379,"hash_id":null,"name":"Congenital ophthalmoplegia","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with congenital ophthalmoplegia including those associated with congenital fibrosis of the extra-ocular muscles (CFEOM), Duane anomaly, Moebius syndrome, and gaze palsies.\r\n\r\nIn addition, it includes genes associated with conditions where ophthalmoplegia can occur in infancy/early childhood as a common/prominent feature of a more complex syndromic, metabolic or neuromuscular condition.","status":"public","version":"1.14","version_created":"2025-12-14T20:52:23.588623+11:00","relevant_disorders":["Abnormality of eye movement","HP:0000496"],"stats":{"number_of_genes":55,"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":["FLJ35794"],"biotype":"protein_coding","hgnc_id":"HGNC:26661","gene_name":"ring finger protein 168","omim_gene":["612688"],"alias_name":null,"gene_symbol":"RNF168","hgnc_symbol":"RNF168","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:196195654-196230639","ensembl_id":"ENSG00000163961"}},"GRch38":{"90":{"location":"3:196468783-196503768","ensembl_id":"ENSG00000163961"}}},"hgnc_date_symbol_changed":"2005-01-25"},"entity_type":"gene","entity_name":"RNF168","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["19203578","21394101","29255463","21552324"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["RIDDLE syndrome MIM# 611943","Radiosensitivity","Immune Deficiency","Dysmorphic Features","Learning difficulties","Low IgG or IgA","Short stature","mild defect of motor control to ataxia","normal intelligence to learning difficulties","mild facial dysmorphism to microcephaly"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2860","gene_name":"7-dehydrocholesterol reductase","omim_gene":["602858"],"alias_name":null,"gene_symbol":"DHCR7","hgnc_symbol":"DHCR7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:71139239-71163914","ensembl_id":"ENSG00000172893"}},"GRch38":{"90":{"location":"11:71428193-71452868","ensembl_id":"ENSG00000172893"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"DHCR7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Smith-Lemli-Opitz syndrome, MIM#270400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PTHRP","HHM","PLP","PTHR"],"biotype":"protein_coding","hgnc_id":"HGNC:9607","gene_name":"parathyroid hormone like hormone","omim_gene":["168470"],"alias_name":["osteostatin","parathyroid hormone-like hormone preproprotein","parathyroid hormone-related protein preproprotein"],"gene_symbol":"PTHLH","hgnc_symbol":"PTHLH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:28111017-28125638","ensembl_id":"ENSG00000087494"}},"GRch38":{"90":{"location":"12:27958084-27972705","ensembl_id":"ENSG00000087494"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PTHLH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green"],"phenotypes":["Brachydactyly, type E2 613382"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3729,"hash_id":null,"name":"Hand and foot malformations","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.","status":"public","version":"0.89","version_created":"2026-04-07T13:49:34.993963+10:00","relevant_disorders":["Abnormal hand morphology","HP:0005922; Abnormal foot morphology","HP:0001760"],"stats":{"number_of_genes":101,"number_of_strs":1,"number_of_regions":5},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["eIF3-epsilon","eIF3-p47","eIF3f"],"biotype":"protein_coding","hgnc_id":"HGNC:3275","gene_name":"eukaryotic translation initiation factor 3 subunit F","omim_gene":["603914"],"alias_name":null,"gene_symbol":"EIF3F","hgnc_symbol":"EIF3F","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:7991798-8023409","ensembl_id":"ENSG00000175390"}},"GRch38":{"90":{"location":"11:7970251-8001862","ensembl_id":"ENSG00000175390"}}},"hgnc_date_symbol_changed":"2007-07-27"},"entity_type":"gene","entity_name":"EIF3F","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33736665"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder, autosomal recessive 67- MIM#618295"],"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":["c-MAF"],"biotype":"protein_coding","hgnc_id":"HGNC:6776","gene_name":"MAF bZIP transcription factor","omim_gene":["177075"],"alias_name":null,"gene_symbol":"MAF","hgnc_symbol":"MAF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:79619740-79634611","ensembl_id":"ENSG00000178573"}},"GRch38":{"90":{"location":"16:79585843-79600714","ensembl_id":"ENSG00000178573"}}},"hgnc_date_symbol_changed":"1991-08-01"},"entity_type":"gene","entity_name":"MAF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30160832","34643041"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Ayme-Gripp syndrome (MIM#601088)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. 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It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. 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It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. 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It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PAP-A","PAPA","PAPA1","PAPB","ACLS","PPDIV"],"biotype":"protein_coding","hgnc_id":"HGNC:4319","gene_name":"GLI family zinc finger 3","omim_gene":["165240"],"alias_name":["zinc finger protein GLI3","oncogene GLI3","DNA-binding protein"],"gene_symbol":"GLI3","hgnc_symbol":"GLI3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:42000548-42277469","ensembl_id":"ENSG00000106571"}},"GRch38":{"90":{"location":"7:41960950-42237870","ensembl_id":"ENSG00000106571"}}},"hgnc_date_symbol_changed":"1989-05-29"},"entity_type":"gene","entity_name":"GLI3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list","Expert Review","Victorian Clinical Genetics Services","Melbourne Genomics Health Alliance Perinatal Autopsy Flagship"],"phenotypes":["Greig cephalopolysyndactyly syndrome, MIM# 175700","Polydactyly"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. 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It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SPAX2","SPG58"],"biotype":"protein_coding","hgnc_id":"HGNC:6317","gene_name":"kinesin family member 1C","omim_gene":["603060"],"alias_name":null,"gene_symbol":"KIF1C","hgnc_symbol":"KIF1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:4901243-4931696","ensembl_id":"ENSG00000129250"}},"GRch38":{"90":{"location":"17:4997948-5028401","ensembl_id":"ENSG00000129250"}}},"hgnc_date_symbol_changed":"1998-09-25"},"entity_type":"gene","entity_name":"KIF1C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24319291","17273843","24482476"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Spastic ataxia 2, autosomal recessive, MIM#611302"],"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. 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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":["GAN1","KLHL16"],"biotype":"protein_coding","hgnc_id":"HGNC:4137","gene_name":"gigaxonin","omim_gene":["605379"],"alias_name":["kelch-like family member 16"],"gene_symbol":"GAN","hgnc_symbol":"GAN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:81348557-81424489","ensembl_id":"ENSG00000261609"}},"GRch38":{"90":{"location":"16:81314952-81390884","ensembl_id":"ENSG00000261609"}}},"hgnc_date_symbol_changed":"1998-09-14"},"entity_type":"gene","entity_name":"GAN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Giant axonal neuropathy-1, MIM#256850"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20561","HsT18960","nclf"],"biotype":"protein_coding","hgnc_id":"HGNC:2077","gene_name":"CLN6, transmembrane ER protein","omim_gene":["606725"],"alias_name":null,"gene_symbol":"CLN6","hgnc_symbol":"CLN6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:68499330-68549549","ensembl_id":"ENSG00000128973"}},"GRch38":{"90":{"location":"15:68206992-68257211","ensembl_id":"ENSG00000128973"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"CLN6","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["33242182"],"evidence":["Expert Review Amber","BabySeq Category A gene"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 6, MIM# 601780"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["clinical trial"],"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":["PMP69","P70R","EST352188"],"biotype":"protein_coding","hgnc_id":"HGNC:68","gene_name":"ATP binding cassette subfamily D member 4","omim_gene":["603214"],"alias_name":null,"gene_symbol":"ABCD4","hgnc_symbol":"ABCD4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:74752126-74769759","ensembl_id":"ENSG00000119688"}},"GRch38":{"90":{"location":"14:74285423-74303056","ensembl_id":"ENSG00000119688"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"ABCD4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22922874","30651581","28572511","31113616","33729671"],"evidence":["Expert Review Green","BabySeq Category C gene","BeginNGS"],"phenotypes":["Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; 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Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8840","gene_name":"peptidase D","omim_gene":["613230"],"alias_name":["prolidase"],"gene_symbol":"PEPD","hgnc_symbol":"PEPD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:33877856-34012700","ensembl_id":"ENSG00000124299"}},"GRch38":{"90":{"location":"19:33386950-33521794","ensembl_id":"ENSG00000124299"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PEPD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32455636","19308961","3827281","36757671","16470701"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Prolidase deficiency, MIM# 170100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CYB560","cybL"],"biotype":"protein_coding","hgnc_id":"HGNC:10682","gene_name":"succinate dehydrogenase complex subunit C","omim_gene":["602413"],"alias_name":["succinate dehydrogenase cytochrome b560 subunit","succinate dehydrgenase cytochrome b","large subunit of cytochrome b"],"gene_symbol":"SDHC","hgnc_symbol":"SDHC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161284047-161332984","ensembl_id":"ENSG00000143252"}},"GRch38":{"90":{"location":"1:161314257-161375340","ensembl_id":"ENSG00000143252"}}},"hgnc_date_symbol_changed":"1997-10-21"},"entity_type":"gene","entity_name":"SDHC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Pituitary tumor, MONDO:0017611","Pituitary gland adenoma, MONDO:0006373","Hereditary pheochromocytoma-paraganglioma, MONDO:0017366","Pheochromocytoma/paraganglioma syndrome 3, MIM#605373"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4364,"hash_id":null,"name":"Pituitary Tumour","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with pituitary tumour. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with pituitary tumour and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.1","version_created":"2024-11-01T16:34:15.754213+11:00","relevant_disorders":[],"stats":{"number_of_genes":8,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7329","gene_name":"mutS homolog 6","omim_gene":["600678"],"alias_name":null,"gene_symbol":"MSH6","hgnc_symbol":"MSH6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:47922669-48037240","ensembl_id":"ENSG00000116062"}},"GRch38":{"90":{"location":"2:47695530-47810101","ensembl_id":"ENSG00000116062"}}},"hgnc_date_symbol_changed":"1995-08-29"},"entity_type":"gene","entity_name":"MSH6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Colorectal cancer, MONDO:0005575","Polyposis, MONDO:0000147","Lynch syndrome 5, MONDO:0013710","Mismatch repair cancer syndrome 3, MONDO:0030841","Lynch syndrome 5, MIM#614350","Mismatch repair cancer syndrome 3, MIM#619097"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":4371,"hash_id":null,"name":"Colorectal Cancer and Polyposis","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.4","version_created":"2025-11-20T12:31:46.390137+11:00","relevant_disorders":[],"stats":{"number_of_genes":22,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]}]}