{"count":36124,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=131","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=129","results":[{"gene_data":{"alias":["ISSX","CT121","EIEE1"],"biotype":"protein_coding","hgnc_id":"HGNC:18060","gene_name":"aristaless related homeobox","omim_gene":["300382"],"alias_name":["cancer/testis antigen 121"],"gene_symbol":"ARX","hgnc_symbol":"ARX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:25021811-25034065","ensembl_id":"ENSG00000004848"}},"GRch38":{"90":{"location":"X:25003694-25016420","ensembl_id":"ENSG00000004848"}}},"hgnc_date_symbol_changed":"2002-02-11"},"entity_type":"gene","entity_name":"ARX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14722918"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":["Lissencephaly, X-linked 2, MIM# 300215"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":15,"hash_id":null,"name":"Lissencephaly and Band Heterotopia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Brain Malformations flagship, and is maintained by VCGS. It is a consensus panel used by RMH.\r\n\r\nIt contains genes associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri, either occurring in isolation or as part of a more complex disorder. The spectrum of lissencephaly ranges from absent (agyria) or decreased (pachygyria) convolutions of the cortex to less severe malformation known as subcortical band heterotopia.\r\n\r\nPlease also consider the Cobblestone Malformations panel and the broader Malformations of cortical development superpanel if features are not entirely typical.","status":"public","version":"1.30","version_created":"2026-01-19T11:50:01.984105+11:00","relevant_disorders":["Lissencephaly HP:0001339;Subcortical band heterotopia HP:0032409"],"stats":{"number_of_genes":46,"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":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian 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":["GlcAT-I"],"biotype":"protein_coding","hgnc_id":"HGNC:923","gene_name":"beta-1,3-glucuronyltransferase 3","omim_gene":["606374"],"alias_name":["glucuronosyltransferase I","galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"],"gene_symbol":"B3GAT3","hgnc_symbol":"B3GAT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:62382768-62389647","ensembl_id":"ENSG00000149541"}},"GRch38":{"90":{"location":"11:62615296-62622175","ensembl_id":"ENSG00000149541"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"B3GAT3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26754439","31988067"],"evidence":["Expert Review Green","Literature","Expert list"],"phenotypes":["Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects -MIM#245600"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":28,"hash_id":null,"name":"Skeletal Dysplasia_Fetal","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.","status":"public","version":"0.250","version_created":"2026-04-28T10:59:42.452256+10:00","relevant_disorders":[],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6758","gene_name":"mab-21 like 2","omim_gene":["604357"],"alias_name":null,"gene_symbol":"MAB21L2","hgnc_symbol":"MAB21L2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:151503077-151505843","ensembl_id":"ENSG00000181541"}},"GRch38":{"90":{"location":"4:150581922-150584693","ensembl_id":"ENSG00000181541"}}},"hgnc_date_symbol_changed":"1999-07-06"},"entity_type":"gene","entity_name":"MAB21L2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24906020","25719200","31037784","30375740","30073347","26116559"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":42,"hash_id":null,"name":"Anophthalmia_Microphthalmia_Coloboma","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with isolated and syndromic anophthalmia, microphthalmia and coloboma.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Anophthalmia or Microphthalmia' v1.31 and 'Ocular coloboma' v1.38 panels, with discrepancies reviewed and reciprocal feedback provided to Genomics England.","status":"public","version":"1.57","version_created":"2026-03-03T11:23:37.804849+11:00","relevant_disorders":["Anophthalmia","HP:0000528;Microphthalmia","HP:0000568;Coloboma","HP:0000589"],"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":["ARFL2"],"biotype":"protein_coding","hgnc_id":"HGNC:693","gene_name":"ADP ribosylation factor like GTPase 2","omim_gene":["601175"],"alias_name":null,"gene_symbol":"ARL2","hgnc_symbol":"ARL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:64781585-64789656","ensembl_id":"ENSG00000213465"}},"GRch38":{"90":{"location":"11:65014113-65022184","ensembl_id":"ENSG00000213465"}}},"hgnc_date_symbol_changed":"1994-04-13"},"entity_type":"gene","entity_name":"ARL2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["30945270"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1), MIM#619082"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11182","gene_name":"calpain 15","omim_gene":["603267"],"alias_name":null,"gene_symbol":"CAPN15","hgnc_symbol":"CAPN15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:577717-604636","ensembl_id":"ENSG00000103326"}},"GRch38":{"90":{"location":"16:527717-554636","ensembl_id":"ENSG00000103326"}}},"hgnc_date_symbol_changed":"2013-06-27"},"entity_type":"gene","entity_name":"CAPN15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32885237"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Oculogastrointestinal neurodevelopmental syndrome, MIM#\t619318"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2400","gene_name":"crystallin beta B3","omim_gene":["123630"],"alias_name":null,"gene_symbol":"CRYBB3","hgnc_symbol":"CRYBB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:25595817-25603330","ensembl_id":"ENSG00000100053"}},"GRch38":{"90":{"location":"22:25199850-25207363","ensembl_id":"ENSG00000100053"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"CRYBB3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15914629","23508780","34356085","33594837","33510601"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cataract 22, MIM# 609741"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC8685","DKFZp566F223","bA506K6.1"],"biotype":"protein_coding","hgnc_id":"HGNC:30829","gene_name":"tubulin beta 2B class IIb","omim_gene":["612850"],"alias_name":["class IIb beta-tubulin"],"gene_symbol":"TUBB2B","hgnc_symbol":"TUBB2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:3224495-3231964","ensembl_id":"ENSG00000137285"}},"GRch38":{"90":{"location":"6:3224261-3231730","ensembl_id":"ENSG00000137285"}}},"hgnc_date_symbol_changed":"2005-11-03"},"entity_type":"gene","entity_name":"TUBB2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 33528536","34077496"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cortical dysplasia, complex, with other brain malformations 7, OMIM #\t610031"],"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":"1.412","version_created":"2026-04-29T13:55:13.542887+10:00","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6996","gene_name":"myocyte enhancer factor 2C","omim_gene":["600662"],"alias_name":null,"gene_symbol":"MEF2C","hgnc_symbol":"MEF2C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:88013975-88199922","ensembl_id":"ENSG00000081189"}},"GRch38":{"90":{"location":"5:88717117-88904257","ensembl_id":"ENSG00000081189"}}},"hgnc_date_symbol_changed":"1995-02-08"},"entity_type":"gene","entity_name":"MEF2C","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["29104469","22498567","26811383"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Congenital heart disease"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"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":"0.540","version_created":"2026-04-29T17:20:21.794068+10:00","relevant_disorders":["Abnormal heart morphology HP:0001627"],"stats":{"number_of_genes":254,"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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6522","gene_name":"lecithin-cholesterol acyltransferase","omim_gene":["606967"],"alias_name":["phosphatidylcholine--sterol O-acyltransferase"],"gene_symbol":"LCAT","hgnc_symbol":"LCAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:67973653-67978034","ensembl_id":"ENSG00000213398"}},"GRch38":{"90":{"location":"16:67939750-67944131","ensembl_id":"ENSG00000213398"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"LCAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Norum disease, MIM#\t245900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":91,"hash_id":null,"name":"Corneal Dystrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe corneal dystrophies are a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea, causing opacification. The corneal dystrophies can be divided into three groups based on the sole or predominant anatomical location of the abnormalities: (a). the anterior corneal dystrophies affect primarily the corneal epithelium and its basement membrane or Bowman layer and the superficial corneal stroma, (b).the stromal corneal dystrophies affect the corneal stroma, (c). the posterior corneal dystrophies affect the Descemet membrane and the corneal endothelium. \r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Corneal Dystrophy' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 27/07/2020.","status":"public","version":"1.21","version_created":"2026-02-22T15:53:37.257206+11:00","relevant_disorders":["Abnormal corneal morphology","HP:0000481"],"stats":{"number_of_genes":33,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FAD","S182","PS1"],"biotype":"protein_coding","hgnc_id":"HGNC:9508","gene_name":"presenilin 1","omim_gene":["104311"],"alias_name":null,"gene_symbol":"PSEN1","hgnc_symbol":"PSEN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:73603126-73690399","ensembl_id":"ENSG00000080815"}},"GRch38":{"90":{"location":"14:73136418-73223691","ensembl_id":"ENSG00000080815"}}},"hgnc_date_symbol_changed":"1992-11-05"},"entity_type":"gene","entity_name":"PSEN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Red","ClinGen"],"phenotypes":["Dilated cardiomyopathy, MONDO:0005021"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"panel":{"id":95,"hash_id":null,"name":"Dilated Cardiomyopathy","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes typically associated with isolated dilated cardiomyopathy, with onset in adolescence or adulthood. For early onset dilated cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England 'Dilated Cardiomyopathy - teen and adult' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England 5/8/2020.\r\n\r\nThe panel is aligned with the assessments of DCM genes by ClinGen, Jordan E et al, 2021, PMID 33947203.","status":"public","version":"1.66","version_created":"2026-04-02T19:34:23.537467+11:00","relevant_disorders":["Dilated cardiomyopathy","HP:0001644"],"stats":{"number_of_genes":69,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4065","gene_name":"glucosidase alpha, acid","omim_gene":["606800"],"alias_name":["Pompe disease","glycogen storage disease type II"],"gene_symbol":"GAA","hgnc_symbol":"GAA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:78075355-78093678","ensembl_id":"ENSG00000171298"}},"GRch38":{"90":{"location":"17:80101556-80119879","ensembl_id":"ENSG00000171298"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GAA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["27142047"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Glycogen storage disease II, MIM#232300"],"mode_of_inheritance":"BIALLELIC, 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":"1.26","version_created":"2026-04-28T10:50:20.751827+10:00","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":["LRBP","MK"],"biotype":"protein_coding","hgnc_id":"HGNC:7530","gene_name":"mevalonate kinase","omim_gene":["251170"],"alias_name":["LH receptor mRNA-binding protein","mevalonic aciduria"],"gene_symbol":"MVK","hgnc_symbol":"MVK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:110011060-110035067","ensembl_id":"ENSG00000110921"}},"GRch38":{"90":{"location":"12:109573255-109598117","ensembl_id":"ENSG00000110921"}}},"hgnc_date_symbol_changed":"1992-10-06"},"entity_type":"gene","entity_name":"MVK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27012807","28603204","23146290"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mevalonic aciduria, MIM#610377"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8854","gene_name":"peroxisomal biogenesis factor 12","omim_gene":["601758"],"alias_name":null,"gene_symbol":"PEX12","hgnc_symbol":"PEX12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:33901814-33905882","ensembl_id":"ENSG00000108733"}},"GRch38":{"90":{"location":"17:35574795-35578863","ensembl_id":"ENSG00000108733"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PEX12","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":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DXS8237E","KIAA0122","GPATC9","ZRANB5","GPATCH9"],"biotype":"protein_coding","hgnc_id":"HGNC:9896","gene_name":"RNA binding motif protein 10","omim_gene":["300080"],"alias_name":null,"gene_symbol":"RBM10","hgnc_symbol":"RBM10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:47004268-47046212","ensembl_id":"ENSG00000182872"}},"GRch38":{"90":{"location":"X:47144869-47186813","ensembl_id":"ENSG00000182872"}}},"hgnc_date_symbol_changed":"2000-02-21"},"entity_type":"gene","entity_name":"RBM10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20451169","24259342","30450804","30189253","33340101"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["TARP syndrome, MIM# 311900"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":136,"hash_id":null,"name":"Mandibulofacial Acrofacial dysostosis","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 contains genes associated with the facial dysostoses, which can be subdivided into mandibulofacial dysostoses, which present with craniofacial defects only, and acrofacial dysostoses, which encompass both craniofacial and limb anomalies. Facial dysostoses arise as a consequence of abnormal development of the first and second pharyngeal arches and their derivatives, including the upper and lower jaw and their hyoid support structures.","status":"public","version":"1.22","version_created":"2026-03-25T17:21:58.910310+11:00","relevant_disorders":["Craniofacial dysostosis","HP:0004439"],"stats":{"number_of_genes":35,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FXR","RIP14","HRR1","HRR-1"],"biotype":"protein_coding","hgnc_id":"HGNC:7967","gene_name":"nuclear receptor subfamily 1 group H member 4","omim_gene":["603826"],"alias_name":["farnesoid X receptor"],"gene_symbol":"NR1H4","hgnc_symbol":"NR1H4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:100867486-100958191","ensembl_id":"ENSG00000012504"}},"GRch38":{"90":{"location":"12:100473708-100564413","ensembl_id":"ENSG00000012504"}}},"hgnc_date_symbol_changed":"1999-09-17"},"entity_type":"gene","entity_name":"NR1H4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26888176","32443034"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cholestasis, progressive familial intrahepatic, 5, MIM# 617049"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["DIC1","PCD","CILD1"],"biotype":"protein_coding","hgnc_id":"HGNC:2954","gene_name":"dynein axonemal intermediate chain 1","omim_gene":["604366"],"alias_name":null,"gene_symbol":"DNAI1","hgnc_symbol":"DNAI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:34457412-34520982","ensembl_id":"ENSG00000122735"}},"GRch38":{"90":{"location":"9:34457414-34520989","ensembl_id":"ENSG00000122735"}}},"hgnc_date_symbol_changed":"2000-06-16"},"entity_type":"gene","entity_name":"DNAI1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10577904","11231901","32502479","31765523","30622330"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["EDA1","XLHED","HED","XHED","ED1-A1","ED1-A2","EDA-A1","EDA-A2"],"biotype":"protein_coding","hgnc_id":"HGNC:3157","gene_name":"ectodysplasin A","omim_gene":["300451"],"alias_name":null,"gene_symbol":"EDA","hgnc_symbol":"EDA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:68835911-69259319","ensembl_id":"ENSG00000158813"}},"GRch38":{"90":{"location":"X:69616067-70039469","ensembl_id":"ENSG00000158813"}}},"hgnc_date_symbol_changed":"2004-08-12"},"entity_type":"gene","entity_name":"EDA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27144394","8696334","9507389","9683615","18657636"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100","Tooth agenesis, selective, X-linked 1 MIM#313500"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["HER3"],"biotype":"protein_coding","hgnc_id":"HGNC:3431","gene_name":"erb-b2 receptor tyrosine kinase 3","omim_gene":["190151"],"alias_name":["human epidermal growth factor receptor 3"],"gene_symbol":"ERBB3","hgnc_symbol":"ERBB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:56473641-56497289","ensembl_id":"ENSG00000065361"}},"GRch38":{"90":{"location":"12:56079857-56103505","ensembl_id":"ENSG00000065361"}}},"hgnc_date_symbol_changed":"1990-07-15"},"entity_type":"gene","entity_name":"ERBB3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17701904","31752936","33720042","33497358"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Lethal congenital contractural syndrome 2, MIM# 607598","Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180","Hirschsprung disease","Arthrogryposis","Complex neurocristinopathy"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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:14074","gene_name":"formin 2","omim_gene":["606373"],"alias_name":null,"gene_symbol":"FMN2","hgnc_symbol":"FMN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:240177648-240638489","ensembl_id":"ENSG00000155816"}},"GRch38":{"90":{"location":"1:240014348-240475189","ensembl_id":"ENSG00000155816"}}},"hgnc_date_symbol_changed":"2000-11-28"},"entity_type":"gene","entity_name":"FMN2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25480035","32162566","24161494"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Intellectual developmental disorder, autosomal recessive 47, MIM#616193"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["Gsh4"],"biotype":"protein_coding","hgnc_id":"HGNC:21734","gene_name":"LIM homeobox 4","omim_gene":["602146"],"alias_name":null,"gene_symbol":"LHX4","hgnc_symbol":"LHX4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:180199421-180249380","ensembl_id":"ENSG00000121454"}},"GRch38":{"90":{"location":"1:180230286-180278982","ensembl_id":"ENSG00000121454"}}},"hgnc_date_symbol_changed":"2003-07-21"},"entity_type":"gene","entity_name":"LHX4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Pituitary hormone deficiency, combined, 4, MIM# 262700"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["bA59I9.3"],"biotype":"protein_coding","hgnc_id":"HGNC:23041","gene_name":"decaprenyl diphosphate synthase subunit 2","omim_gene":["610564"],"alias_name":null,"gene_symbol":"PDSS2","hgnc_symbol":"PDSS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:107473761-107780768","ensembl_id":"ENSG00000164494"}},"GRch38":{"90":{"location":"6:107152557-107459564","ensembl_id":"ENSG00000164494"}}},"hgnc_date_symbol_changed":"2006-02-14"},"entity_type":"gene","entity_name":"PDSS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29032433","25349199","17186472","21723727","10972372"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Coenzyme Q10 deficiency, primary, 3 MIM#614652"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["KIAA0233"],"biotype":"protein_coding","hgnc_id":"HGNC:28993","gene_name":"piezo type mechanosensitive ion channel component 1","omim_gene":["611184"],"alias_name":null,"gene_symbol":"PIEZO1","hgnc_symbol":"PIEZO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:88781751-88851619","ensembl_id":"ENSG00000103335"}},"GRch38":{"90":{"location":"16:88715343-88785211","ensembl_id":"ENSG00000103335"}}},"hgnc_date_symbol_changed":"2011-08-31"},"entity_type":"gene","entity_name":"PIEZO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["23695678","26333996","33181827"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Lymphatic malformation 6, 616843","Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380","Erythrocytosis"],"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. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["G13","MGC46138"],"biotype":"protein_coding","hgnc_id":"HGNC:4381","gene_name":"G protein subunit alpha 13","omim_gene":["604406"],"alias_name":null,"gene_symbol":"GNA13","hgnc_symbol":"GNA13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:63006833-63052957","ensembl_id":"ENSG00000120063"}},"GRch38":{"90":{"location":"17:65010715-65056839","ensembl_id":"ENSG00000120063"}}},"hgnc_date_symbol_changed":"1999-07-14"},"entity_type":"gene","entity_name":"GNA13","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"Other","publications":["39966435"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Ito hypomelanosis MONDO:0010302"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["somatic"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["M18BP1","FLJ11186","KIAA1903","KNL2"],"biotype":"protein_coding","hgnc_id":"HGNC:20190","gene_name":"MIS18 binding protein 1","omim_gene":null,"alias_name":["kinetochore null 2 homolog (C. elegans)"],"gene_symbol":"MIS18BP1","hgnc_symbol":"MIS18BP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:45672393-45722743","ensembl_id":"ENSG00000129534"}},"GRch38":{"90":{"location":"14:45203190-45253540","ensembl_id":"ENSG00000129534"}}},"hgnc_date_symbol_changed":"2011-02-23"},"entity_type":"gene","entity_name":"MIS18BP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 40677927"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Cornelia de Lange syndrome (MONDO:0016033)"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["HLC-8","MIG3","FLJ20721","SPEP1"],"biotype":"protein_coding","hgnc_id":"HGNC:29601","gene_name":"chromosome 17 open reading frame 80","omim_gene":null,"alias_name":["sperm-expressed protein 1","migration-inducing protein 3"],"gene_symbol":"C17orf80","hgnc_symbol":"C17orf80","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:71228372-71245091","ensembl_id":"ENSG00000141219"}},"GRch38":{"90":{"location":"17:73232233-73248947","ensembl_id":"ENSG00000141219"}}},"hgnc_date_symbol_changed":"2012-02-24"},"entity_type":"gene","entity_name":"C17orf80","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["41720819"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Mitochondrial disease, MONDO:0044970"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["ABBA-1","LOC92154","ABBA"],"biotype":"protein_coding","hgnc_id":"HGNC:25094","gene_name":"MTSS1L, I-BAR domain containing","omim_gene":["616951"],"alias_name":["actin-bundling protein with BAIAP2 homology"],"gene_symbol":"MTSS1L","hgnc_symbol":"MTSS1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:70695107-70719969","ensembl_id":"ENSG00000132613"}},"GRch38":{"90":{"location":"16:70661204-70686066","ensembl_id":"ENSG00000132613"}}},"hgnc_date_symbol_changed":"2008-12-05"},"entity_type":"gene","entity_name":"MTSS1L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 36067766","39890443","40698928"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder with ocular anomalies and distinctive facial features\tMIM#620086"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["new gene name"],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.434","version_created":"2026-04-30T15:02:27.868954+10:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":384,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ10504","LST005","MST","misato"],"biotype":"protein_coding","hgnc_id":"HGNC:29678","gene_name":"misato 1, mitochondrial distribution and morphology regulator","omim_gene":["617619"],"alias_name":null,"gene_symbol":"MSTO1","hgnc_symbol":"MSTO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:155579979-155718153","ensembl_id":"ENSG00000125459"}},"GRch38":{"90":{"location":"1:155610205-155614967","ensembl_id":"ENSG00000125459"}}},"hgnc_date_symbol_changed":"2005-07-19"},"entity_type":"gene","entity_name":"MSTO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28554942","28544275","31604776"],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Myopathy, mitochondrial, and ataxia (MIM#617675)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Ha-2"],"biotype":"protein_coding","hgnc_id":"HGNC:6449","gene_name":"keratin 32","omim_gene":["602760"],"alias_name":["hard keratin type I"],"gene_symbol":"KRT32","hgnc_symbol":"KRT32","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:39616063-39623681","ensembl_id":"ENSG00000108759"}},"GRch38":{"90":{"location":"17:41459811-41467429","ensembl_id":"ENSG00000108759"}}},"hgnc_date_symbol_changed":"2006-07-17"},"entity_type":"gene","entity_name":"KRT32","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39048559"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Pityriasis rubra pilaris MONDO:0100017"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":153,"hash_id":null,"name":"Palmoplantar Keratoderma and Erythrokeratoderma","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.","status":"public","version":"0.144","version_created":"2026-03-08T22:20:02.332483+11:00","relevant_disorders":["Palmoplantar keratoderma","HP:0000982; Erythrokeratoderma","MONDO:0019270"],"stats":{"number_of_genes":73,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ10147","HIPPI","MHS4R2"],"biotype":"protein_coding","hgnc_id":"HGNC:17367","gene_name":"intraflagellar transport 57","omim_gene":["606621"],"alias_name":null,"gene_symbol":"IFT57","hgnc_symbol":"IFT57","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:107879659-107941417","ensembl_id":"ENSG00000114446"}},"GRch38":{"90":{"location":"3:108160812-108222570","ensembl_id":"ENSG00000114446"}}},"hgnc_date_symbol_changed":"2005-11-02"},"entity_type":"gene","entity_name":"IFT57","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID:40273360"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Bardet-Bield syndrome","ciliopathy - MONDO:0005308"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":159,"hash_id":null,"name":"Polydactyly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes that cause syndromic and non-syndromic polydactyly.","status":"public","version":"0.303","version_created":"2026-04-23T20:20:44.540776+10:00","relevant_disorders":["Polydactyly","HP:0010442"],"stats":{"number_of_genes":141,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RAYL","BBS19"],"biotype":"protein_coding","hgnc_id":"HGNC:18626","gene_name":"intraflagellar transport 27","omim_gene":["615870"],"alias_name":null,"gene_symbol":"IFT27","hgnc_symbol":"IFT27","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:37154246-37172300","ensembl_id":"ENSG00000100360"}},"GRch38":{"90":{"location":"22:36758202-36776256","ensembl_id":"ENSG00000100360"}}},"hgnc_date_symbol_changed":"2010-04-22"},"entity_type":"gene","entity_name":"IFT27","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":159,"hash_id":null,"name":"Polydactyly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes that cause syndromic and non-syndromic polydactyly.","status":"public","version":"0.303","version_created":"2026-04-23T20:20:44.540776+10:00","relevant_disorders":["Polydactyly","HP:0010442"],"stats":{"number_of_genes":141,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["REPA1","RPA70","HSSB","RF-A","RP-A"],"biotype":"protein_coding","hgnc_id":"HGNC:10289","gene_name":"replication protein A1","omim_gene":["179835"],"alias_name":null,"gene_symbol":"RPA1","hgnc_symbol":"RPA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:1732996-1803376","ensembl_id":"ENSG00000132383"}},"GRch38":{"90":{"location":"17:1829702-1900082","ensembl_id":"ENSG00000132383"}}},"hgnc_date_symbol_changed":"1993-12-14"},"entity_type":"gene","entity_name":"RPA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["34767620"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767","Bone marrow failure","T- and B-cell lymphopaenia","pulmonary fibrosis","skin manifestations","short telomeres"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":162,"hash_id":null,"name":"Pulmonary Fibrosis_Interstitial Lung Disease","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.","status":"public","version":"1.11","version_created":"2026-04-28T14:26:42.495816+10:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":98,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PURALPHA","PUR1","PUR-ALPHA"],"biotype":"protein_coding","hgnc_id":"HGNC:9701","gene_name":"purine rich element binding protein A","omim_gene":["600473"],"alias_name":null,"gene_symbol":"PURA","hgnc_symbol":"PURA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:139487362-139496321","ensembl_id":"ENSG00000185129"}},"GRch38":{"90":{"location":"5:140107777-140125619","ensembl_id":"ENSG00000185129"}}},"hgnc_date_symbol_changed":"1993-10-19"},"entity_type":"gene","entity_name":"PURA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25439098","25342064","12972605"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158)"],"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":"1.414","version_created":"2026-04-29T19:08:58.015652+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1157,"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":["BCNS"],"biotype":"protein_coding","hgnc_id":"HGNC:9585","gene_name":"patched 1","omim_gene":["601309"],"alias_name":null,"gene_symbol":"PTCH1","hgnc_symbol":"PTCH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:98205262-98279339","ensembl_id":"ENSG00000185920"}},"GRch38":{"90":{"location":"9:95442980-95517057","ensembl_id":"ENSG00000185920"}}},"hgnc_date_symbol_changed":"2006-09-26"},"entity_type":"gene","entity_name":"PTCH1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["11941477","17001668","29575684","36171624"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Holoprosencephaly 7, MIM# 610828"],"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":"1.414","version_created":"2026-04-29T19:08:58.015652+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1157,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6638","gene_name":"lamin B2","omim_gene":["150341"],"alias_name":null,"gene_symbol":"LMNB2","hgnc_symbol":"LMNB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:2427636-2456994","ensembl_id":"ENSG00000176619"}},"GRch38":{"90":{"location":"19:2427638-2456996","ensembl_id":"ENSG00000176619"}}},"hgnc_date_symbol_changed":"1992-04-09"},"entity_type":"gene","entity_name":"LMNB2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 33783721","25954030","34466237"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["?Epilepsy, progressive myoclonic, 9  MIM#616540"],"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. 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It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["cblA"],"biotype":"protein_coding","hgnc_id":"HGNC:18871","gene_name":"methylmalonic aciduria (cobalamin deficiency) cblA type","omim_gene":["607481"],"alias_name":null,"gene_symbol":"MMAA","hgnc_symbol":"MMAA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:146539415-146581187","ensembl_id":"ENSG00000151611"}},"GRch38":{"90":{"location":"4:145618263-145660035","ensembl_id":"ENSG00000151611"}}},"hgnc_date_symbol_changed":"2003-02-11"},"entity_type":"gene","entity_name":"MMAA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15523652","12438653"],"evidence":["Expert Review Green","Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Methylmalonic aciduria, vitamin B12-responsive 251100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3470,"hash_id":null,"name":"Hyperammonaemia","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with urea cycle disorders and other metabolic conditions that cause hyperammonaemia.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"0.10","version_created":"2023-03-02T14:41:08.610876+11:00","relevant_disorders":["Hyperammonaemia","HP:0001987"],"stats":{"number_of_genes":43,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["JBTS22"],"biotype":"protein_coding","hgnc_id":"HGNC:8788","gene_name":"phosphodiesterase 6D","omim_gene":["602676"],"alias_name":null,"gene_symbol":"PDE6D","hgnc_symbol":"PDE6D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:232597135-232650982","ensembl_id":"ENSG00000156973"}},"GRch38":{"90":{"location":"2:231732425-231786272","ensembl_id":"ENSG00000156973"}}},"hgnc_date_symbol_changed":"1997-11-03"},"entity_type":"gene","entity_name":"PDE6D","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30423442","24166846"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Joubert syndrome 22 - MIM#615665"],"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":"1.576","version_created":"2026-04-29T19:01:52.053429+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp761A052","DUBA"],"biotype":"protein_coding","hgnc_id":"HGNC:25402","gene_name":"OTU deubiquitinase 5","omim_gene":["300713"],"alias_name":null,"gene_symbol":"OTUD5","hgnc_symbol":"OTUD5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48779305-48815648","ensembl_id":"ENSG00000068308"}},"GRch38":{"90":{"location":"X:48922028-48958386","ensembl_id":"ENSG00000068308"}}},"hgnc_date_symbol_changed":"2005-09-28"},"entity_type":"gene","entity_name":"OTUD5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33523931","33131077"],"evidence":["Expert Review Green","Genomics England PanelApp","Literature"],"phenotypes":["Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.576","version_created":"2026-04-29T19:01:52.053429+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11595","gene_name":"T-box 18","omim_gene":["604613"],"alias_name":null,"gene_symbol":"TBX18","hgnc_symbol":"TBX18","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:85397069-85474237","ensembl_id":"ENSG00000112837"}},"GRch38":{"90":{"location":"6:84687351-84764519","ensembl_id":"ENSG00000112837"}}},"hgnc_date_symbol_changed":"1999-02-01"},"entity_type":"gene","entity_name":"TBX18","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26235987"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Congenital anomalies of kidney and urinary tract 2, MIM# 143400"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.576","version_created":"2026-04-29T19:01:52.053429+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CDA-II","CDAII","HEMPAS"],"biotype":"protein_coding","hgnc_id":"HGNC:10702","gene_name":"Sec23 homolog B, coat complex II component","omim_gene":["610512"],"alias_name":null,"gene_symbol":"SEC23B","hgnc_symbol":"SEC23B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:18488137-18542059","ensembl_id":"ENSG00000101310"}},"GRch38":{"90":{"location":"20:18507493-18561415","ensembl_id":"ENSG00000101310"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"SEC23B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20381388"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Dyserythropoietic anemia, congenital, type II 224100","COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)"],"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":"1.576","version_created":"2026-04-29T19:01:52.053429+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SAP145","SF3b1","Cus1","SF3b145"],"biotype":"protein_coding","hgnc_id":"HGNC:10769","gene_name":"splicing factor 3b subunit 2","omim_gene":["605591"],"alias_name":null,"gene_symbol":"SF3B2","hgnc_symbol":"SF3B2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65818200-65836779","ensembl_id":"ENSG00000087365"}},"GRch38":{"90":{"location":"11:66050729-66069308","ensembl_id":"ENSG00000087365"}}},"hgnc_date_symbol_changed":"2000-02-29"},"entity_type":"gene","entity_name":"SF3B2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34344887"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Craniofacial microsomia, MIM#164210"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.576","version_created":"2026-04-29T19:01:52.053429+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Miner1","ERIS","NAF-1"],"biotype":"protein_coding","hgnc_id":"HGNC:24212","gene_name":"CDGSH iron sulfur domain 2","omim_gene":["611507"],"alias_name":["mitoNEET related 1","endoplasmic reticulum intermembrane small protein","nutrient-deprivation autophagy factor-1"],"gene_symbol":"CISD2","hgnc_symbol":"CISD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:103790135-103810399","ensembl_id":"ENSG00000145354"}},"GRch38":{"90":{"location":"4:102868978-102889242","ensembl_id":"ENSG00000145354"}}},"hgnc_date_symbol_changed":"2007-08-10"},"entity_type":"gene","entity_name":"CISD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["35055657","29237418","28335035","27459537","26230298","17846994"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Wolfram syndrome 2 MIM#604928","MONDO:0011502"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AGXT1","PH1","AGT","SPT","AGT1"],"biotype":"protein_coding","hgnc_id":"HGNC:341","gene_name":"alanine-glyoxylate aminotransferase","omim_gene":["604285"],"alias_name":["oxalosis I","primary hyperoxaluria type 1","L-alanine: glyoxylate aminotransferase 1","serine:pyruvate aminotransferase","glycolicaciduria"],"gene_symbol":"AGXT","hgnc_symbol":"AGXT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:241807896-241819919","ensembl_id":"ENSG00000172482"}},"GRch38":{"90":{"location":"2:240868479-240880502","ensembl_id":"ENSG00000172482"}}},"hgnc_date_symbol_changed":"1990-11-20"},"entity_type":"gene","entity_name":"AGXT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["2039493","19479957","33789010"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hyperoxaluria, primary, type 1, 259900 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. 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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":["CMD1R"],"biotype":"protein_coding","hgnc_id":"HGNC:143","gene_name":"actin, alpha, cardiac muscle 1","omim_gene":["102540"],"alias_name":null,"gene_symbol":"ACTC1","hgnc_symbol":"ACTC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:35080297-35088340","ensembl_id":"ENSG00000159251"}},"GRch38":{"90":{"location":"15:34788096-34796139","ensembl_id":"ENSG00000159251"}}},"hgnc_date_symbol_changed":"2006-08-24"},"entity_type":"gene","entity_name":"ACTC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","BabySeq Category B gene","Expert Review Red"],"phenotypes":["Atrial septal defect","Cardiomyopathy, familial hypertrophic","Left ventricular noncompaction","Cardiomyopathy, dilated"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; 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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":["CD41B","CD41","PPP1R93"],"biotype":"protein_coding","hgnc_id":"HGNC:6138","gene_name":"integrin subunit alpha 2b","omim_gene":["607759"],"alias_name":["protein phosphatase 1, regulatory subunit 93","platelet glycoprotein IIb of IIb/IIIa complex"],"gene_symbol":"ITGA2B","hgnc_symbol":"ITGA2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42449548-42466873","ensembl_id":"ENSG00000005961"}},"GRch38":{"90":{"location":"17:44372180-44389505","ensembl_id":"ENSG00000005961"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ITGA2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21454453","8282784","1638023","16463284"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Glanzmann thrombasthaenia 1, MIM# 273800","MONDO:000855","Bleeding disorder, platelet-type, 16, MIM# 187800"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LH2"],"biotype":"protein_coding","hgnc_id":"HGNC:9082","gene_name":"procollagen-lysine,2-oxoglutarate 5-dioxygenase 2","omim_gene":["601865"],"alias_name":["lysyl hydroxlase 2","procollagen-lysine 5-dioxygenase"],"gene_symbol":"PLOD2","hgnc_symbol":"PLOD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:145787227-145881440","ensembl_id":"ENSG00000152952"}},"GRch38":{"90":{"location":"3:146069440-146163653","ensembl_id":"ENSG00000152952"}}},"hgnc_date_symbol_changed":"1996-12-18"},"entity_type":"gene","entity_name":"PLOD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12881513","22689593","15523624"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bruck syndrome 2, MIM# 609220"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1870","MGC11337","FLJ11895"],"biotype":"protein_coding","hgnc_id":"HGNC:22986","gene_name":"collagen type XXVII alpha 1 chain","omim_gene":["608461"],"alias_name":null,"gene_symbol":"COL27A1","hgnc_symbol":"COL27A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:116917840-117074791","ensembl_id":"ENSG00000196739"}},"GRch38":{"90":{"location":"9:114155560-114312511","ensembl_id":"ENSG00000196739"}}},"hgnc_date_symbol_changed":"2003-08-12"},"entity_type":"gene","entity_name":"COL27A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32360765","33963180"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Steel syndrome (MIM#615155)"],"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":"2.1","version_created":"2026-04-24T17:01:18.976102+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":["CPTASE"],"biotype":"protein_coding","hgnc_id":"HGNC:2330","gene_name":"carnitine palmitoyltransferase 2","omim_gene":["600650"],"alias_name":null,"gene_symbol":"CPT2","hgnc_symbol":"CPT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:53662101-53679869","ensembl_id":"ENSG00000157184"}},"GRch38":{"90":{"location":"1:53196429-53214197","ensembl_id":"ENSG00000157184"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"CPT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32295037"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["CPT II deficiency, infantile MIM#600649","CPT II deficiency, lethal neonatal MIM#608836"],"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":"2.1","version_created":"2026-04-24T17:01:18.976102+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":["P450C17","CPT7","S17AH"],"biotype":"protein_coding","hgnc_id":"HGNC:2593","gene_name":"cytochrome P450 family 17 subfamily A member 1","omim_gene":["609300"],"alias_name":["Steroid 17-alpha-monooxygenase"],"gene_symbol":"CYP17A1","hgnc_symbol":"CYP17A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:104590288-104597290","ensembl_id":"ENSG00000148795"}},"GRch38":{"90":{"location":"10:102830531-102837533","ensembl_id":"ENSG00000148795"}}},"hgnc_date_symbol_changed":"2003-02-28"},"entity_type":"gene","entity_name":"CYP17A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["2843762","14671162","2026124","35178494","35043964"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["17-alpha-hydroxylase/17,20-lyase deficiency MIM#202110"],"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":"2.1","version_created":"2026-04-24T17:01:18.976102+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:6654","gene_name":"LIM homeobox transcription factor 1 beta","omim_gene":["602575"],"alias_name":null,"gene_symbol":"LMX1B","hgnc_symbol":"LMX1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:129376722-129463311","ensembl_id":"ENSG00000136944"}},"GRch38":{"90":{"location":"9:126614443-126701032","ensembl_id":"ENSG00000136944"}}},"hgnc_date_symbol_changed":"1998-02-11"},"entity_type":"gene","entity_name":"LMX1B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["29650765"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Nail-patella syndrome\tMIM#161200"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4323,"hash_id":null,"name":"Spontaneous coronary artery dissection","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"Spontaneous coronary artery (SCA) dissection is a rare cause of myocardial infarction, particularly in younger individuals. While the aetiology is likely to be polygenic in the majority of individuals, SCA dissection may also be indicative of an underlying systemic arteriopathy. This panel contains genes that have been reported in association with this clinical presentation.\r\n\r\nConsider also using the Aortopathy_Connective Tissue Disorders panel in conjunction.\r\n\r\nThis panel was developed in collaboration with Cardiovascular Genomics at the Victorian Heart Hospital and the Clinical Genetics & Genomics Service at Alfred Health.","status":"public","version":"0.58","version_created":"2026-04-06T11:41:58.138051+10:00","relevant_disorders":[],"stats":{"number_of_genes":20,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ11142"],"biotype":"protein_coding","hgnc_id":"HGNC:25631","gene_name":"cilia and flagella associated protein 44","omim_gene":["617559"],"alias_name":null,"gene_symbol":"CFAP44","hgnc_symbol":"CFAP44","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:113005777-113160457","ensembl_id":"ENSG00000206530"}},"GRch38":{"90":{"location":"3:113286947-113441610","ensembl_id":"ENSG00000206530"}}},"hgnc_date_symbol_changed":"2014-07-18"},"entity_type":"gene","entity_name":"CFAP44","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28552195","29277146","29449551"],"evidence":["Literature","Expert Review Green","Expert Review Green","Literature"],"phenotypes":["spermatogenic failure MONDO:0004983"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.156","version_created":"2026-04-30T15:46:29.604965+10:00","relevant_disorders":[],"stats":{"number_of_genes":269,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["NOTCH2NLC"],"biotype":"gene with protein product","hgnc_id":"HGNC:53924","gene_name":"Notch 2 N-Terminal Like C","omim_gene":["618025"],"alias_name":["notch 2 N-terminal like C"],"gene_symbol":"NOTCH2NLC","hgnc_symbol":"NOTCH2NLC","hgnc_release":"2000-01-01","ensembl_genes":{"GRch37":{"82":{"location":"1:150077036-150158248","ensembl_id":"ENSG00000286219"}},"GRch38":{"90":{"location":"1:149390621-149471833","ensembl_id":"ENSG00000286219"}}},"hgnc_date_symbol_changed":"2000-01-01"},"entity_type":"str","entity_name":"NOTCH2NLC_NIID_GGC","confidence_level":"3","penetrance":null,"publications":["31178126","31332381","31819945","33887199","33943039","32250060","31332380","32852534","32989102","34333668"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neuronal intranuclear inclusion disease MIM#603472","Oculopharyngodistal myopathy 3 MIM#619473","Tremor, hereditary essential, 6 MIM#618866"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"GGC","chromosome":"1","grch37_coordinates":[145209324,145209344],"grch38_coordinates":[149390803,149390829],"normal_repeats":40,"pathogenic_repeats":60,"tags":[],"panel":{"id":26,"hash_id":null,"name":"Early-onset Parkinson disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"2.55","version_created":"2026-04-17T16:01:21.596122+10:00","relevant_disorders":["Abnormality of extrapyramidal motor function","HP:0002071"],"stats":{"number_of_genes":129,"number_of_strs":14,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}}]}