{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=40","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=38","results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:713","gene_name":"arylsulfatase A","omim_gene":["607574"],"alias_name":["metachromatic leucodystrophy"],"gene_symbol":"ARSA","hgnc_symbol":"ARSA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:51061182-51066607","ensembl_id":"ENSG00000100299"}},"GRch38":{"90":{"location":"22:50622754-50628173","ensembl_id":"ENSG00000100299"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ARSA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29486463","26890752","15710861"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Metachromatic leukodystrophy, MIM# 250100, adult-onset"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":24,"hash_id":null,"name":"Early-onset Dementia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause frontotemporal dementia (FTD), Alzheimer's disease, other forms of dementia, and adult-onset cognitive decline. 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Also consider applying the Anophthalmia_Microphthalmia_Coloboma and Cataracts panels as indicated.","status":"public","version":"1.21","version_created":"2026-04-07T13:50:26.927276+10:00","relevant_disorders":["Abnormal anterior eye segment morphology","HP:0004328"],"stats":{"number_of_genes":29,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0605"],"biotype":"protein_coding","hgnc_id":"HGNC:14631","gene_name":"ADAMTS like 2","omim_gene":["612277"],"alias_name":null,"gene_symbol":"ADAMTSL2","hgnc_symbol":"ADAMTSL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:136397286-136440641","ensembl_id":"ENSG00000197859"}},"GRch38":{"90":{"location":"9:133532164-133575519","ensembl_id":"ENSG00000197859"}}},"hgnc_date_symbol_changed":"2005-01-12"},"entity_type":"gene","entity_name":"ADAMTSL2","confidence_level":"2","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["33369194","26879370"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Dermatosparaxic Ehlers Danlos syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":44,"hash_id":null,"name":"Aortopathy_Connective Tissue Disorders","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt contains genes that cause isolated thoracic aortic aneurysm; 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intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1345","MKS6","JBTS9"],"biotype":"protein_coding","hgnc_id":"HGNC:29253","gene_name":"coiled-coil and C2 domain containing 2A","omim_gene":["612013"],"alias_name":["Meckel syndrome, type 6"],"gene_symbol":"CC2D2A","hgnc_symbol":"CC2D2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:15471489-15603180","ensembl_id":"ENSG00000048342"}},"GRch38":{"90":{"location":"4:15469865-15601557","ensembl_id":"ENSG00000048342"}}},"hgnc_date_symbol_changed":"2007-10-19"},"entity_type":"gene","entity_name":"CC2D2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["COACH syndrome 2, MIM# 619111","Meckel syndrome 6, MIM#612284"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":78,"hash_id":null,"name":"Cholestasis","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS.\r\n\r\nIt includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause cholestasis.\r\n\r\nPlease also consider using the Liver Failure_Paediatric panel if clinically indicated.\r\n\r\nThe content of this panel has been compared against the Genomics England PanelApp 'Cholestasis' panel V1.21, with all discrepancies reviewed and resolved, and reciprocal feedback provided to Genomics England.","status":"public","version":"1.10","version_created":"2026-03-26T17:26:27.105917+11:00","relevant_disorders":["Cholestasis HP:0001396"],"stats":{"number_of_genes":99,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4396","gene_name":"G protein subunit beta 1","omim_gene":["139380"],"alias_name":["transducin beta chain 1","guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1"],"gene_symbol":"GNB1","hgnc_symbol":"GNB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:1716729-1822495","ensembl_id":"ENSG00000078369"}},"GRch38":{"90":{"location":"1:1785285-1891117","ensembl_id":"ENSG00000078369"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GNB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32134617"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder, autosomal dominant 42, MIM# 616973"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":93,"hash_id":null,"name":"Craniosynostosis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH. It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.","status":"public","version":"1.85","version_created":"2026-04-07T13:46:55.940488+10:00","relevant_disorders":["Craniosynostosis HP:0001363"],"stats":{"number_of_genes":105,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11598","gene_name":"T-box 20","omim_gene":["606061"],"alias_name":null,"gene_symbol":"TBX20","hgnc_symbol":"TBX20","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:35242042-35293758","ensembl_id":"ENSG00000164532"}},"GRch38":{"90":{"location":"7:35202430-35254147","ensembl_id":"ENSG00000164532"}}},"hgnc_date_symbol_changed":"2000-08-31"},"entity_type":"gene","entity_name":"TBX20","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["26118961","17668378","27510170","35282022"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Dilated cardiomyopathy, MONDO:0005021, TBX20-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":95,"hash_id":null,"name":"Dilated Cardiomyopathy","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes typically associated with isolated dilated cardiomyopathy, with onset in adolescence or adulthood. For early onset dilated cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England 'Dilated Cardiomyopathy - teen and adult' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England 5/8/2020.\r\n\r\nThe panel is aligned with the assessments of DCM genes by ClinGen, Jordan E et al, 2021, PMID 33947203.","status":"public","version":"1.66","version_created":"2026-04-02T19:34:23.537467+11:00","relevant_disorders":["Dilated cardiomyopathy","HP:0001644"],"stats":{"number_of_genes":69,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:417","gene_name":"aldolase, fructose-bisphosphate B","omim_gene":["612724"],"alias_name":null,"gene_symbol":"ALDOB","hgnc_symbol":"ALDOB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:104182860-104198105","ensembl_id":"ENSG00000136872"}},"GRch38":{"90":{"location":"9:101420578-101435823","ensembl_id":"ENSG00000136872"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ALDOB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Fructose intolerance, hereditary, MIM# 229600"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":106,"hash_id":null,"name":"Glycogen Storage Diseases","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).","status":"public","version":"1.4","version_created":"2025-11-21T17:00:56.134684+11:00","relevant_disorders":["Abnormal hepatic glycogen storage","HP:0500030; Abnormal muscle glycogen content","HP:0012269; Visceromegaly","HP:0003271;Hypoglycemia","HP:0001943"],"stats":{"number_of_genes":29,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DSPG1","SLRR1A"],"biotype":"protein_coding","hgnc_id":"HGNC:1044","gene_name":"biglycan","omim_gene":["301870"],"alias_name":["biglycan proteoglycan"],"gene_symbol":"BGN","hgnc_symbol":"BGN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:152760397-152775012","ensembl_id":"ENSG00000182492"}},"GRch38":{"90":{"location":"X:153494939-153509554","ensembl_id":"ENSG00000182492"}}},"hgnc_date_symbol_changed":"1989-07-18"},"entity_type":"gene","entity_name":"BGN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30071989","27632686","17502576"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Meester-Loeys syndrome, MIM# 300989","Spondyloepimetaphyseal dysplasia, X-linked, MIM# 300106"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["cardiac"],"panel":{"id":126,"hash_id":null,"name":"Incidentalome","disease_group":"","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNF119","DKFZp586I021","MGC7807"],"biotype":"protein_coding","hgnc_id":"HGNC:20456","gene_name":"TNF receptor associated factor 7","omim_gene":["606692"],"alias_name":null,"gene_symbol":"TRAF7","hgnc_symbol":"TRAF7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:2205699-2228130","ensembl_id":"ENSG00000131653"}},"GRch38":{"90":{"location":"16:2155698-2178129","ensembl_id":"ENSG00000131653"}}},"hgnc_date_symbol_changed":"2004-06-04"},"entity_type":"gene","entity_name":"TRAF7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32376980"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD49c","VLA3a","VCA-2","GAP-B3"],"biotype":"protein_coding","hgnc_id":"HGNC:6139","gene_name":"integrin subunit alpha 3","omim_gene":["605025"],"alias_name":["alpha 3 subunit of VLA-3 receptor","antigen CD49C"],"gene_symbol":"ITGA3","hgnc_symbol":"ITGA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:48133332-48167845","ensembl_id":"ENSG00000005884"}},"GRch38":{"90":{"location":"17:50055968-50090481","ensembl_id":"ENSG00000005884"}}},"hgnc_date_symbol_changed":"1992-02-27"},"entity_type":"gene","entity_name":"ITGA3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22512483","25810266","27717396","32198874","26854491"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GLUR7","GPRC1G","mGlu7","MGLUR7","PPP1R87"],"biotype":"protein_coding","hgnc_id":"HGNC:4599","gene_name":"glutamate metabotropic receptor 7","omim_gene":["604101"],"alias_name":["protein phosphatase 1, regulatory subunit 87"],"gene_symbol":"GRM7","hgnc_symbol":"GRM7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:6811688-7783215","ensembl_id":"ENSG00000196277"}},"GRch38":{"90":{"location":"3:6770001-7741533","ensembl_id":"ENSG00000196277"}}},"hgnc_date_symbol_changed":"1995-10-11"},"entity_type":"gene","entity_name":"GRM7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32286009","32248644"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Epilepsy, microcephaly, developmental delay","neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA), MIM#618922"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RSRFC4","RSRFC9"],"biotype":"protein_coding","hgnc_id":"HGNC:6993","gene_name":"myocyte enhancer factor 2A","omim_gene":["600660"],"alias_name":null,"gene_symbol":"MEF2A","hgnc_symbol":"MEF2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:100017370-100256671","ensembl_id":"ENSG00000068305"}},"GRch38":{"90":{"location":"15:99565417-99716466","ensembl_id":"ENSG00000068305"}}},"hgnc_date_symbol_changed":"1995-02-08"},"entity_type":"gene","entity_name":"MEF2A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{Coronary artery disease, autosomal dominant, 1} 608320"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NAIC","FLJ14728","KIAA1988","TEX292","CIRHIN"],"biotype":"protein_coding","hgnc_id":"HGNC:1983","gene_name":"UTP4, small subunit processome component","omim_gene":["607456"],"alias_name":["UTP4, small subunit (SSU) processome component, homolog (yeast)"],"gene_symbol":"UTP4","hgnc_symbol":"UTP4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:69165194-69265033","ensembl_id":"ENSG00000141076"}},"GRch38":{"90":{"location":"16:69131291-69231130","ensembl_id":"ENSG00000141076"}}},"hgnc_date_symbol_changed":"2015-11-03"},"entity_type":"gene","entity_name":"UTP4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["12417987","27535533"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["North American Indian childhood cirrhosis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["refuted"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSpin1","nrs","SPINL","PP2030","SPIN1","LAT"],"biotype":"protein_coding","hgnc_id":"HGNC:30621","gene_name":"sphingolipid transporter 1 (putative)","omim_gene":["612583"],"alias_name":null,"gene_symbol":"SPNS1","hgnc_symbol":"SPNS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:28985542-28995869","ensembl_id":"ENSG00000169682"}},"GRch38":{"90":{"location":"16:28974221-28984548","ensembl_id":"ENSG00000169682"}}},"hgnc_date_symbol_changed":"2007-04-12"},"entity_type":"gene","entity_name":"SPNS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40608416","38451736"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Lysosomal disorder, SPNS1-related, MONDO:0002561"],"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. 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It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SIMP","FLJ90106","STT3-B"],"biotype":"protein_coding","hgnc_id":"HGNC:30611","gene_name":"STT3B, catalytic subunit of the oligosaccharyltransferase complex","omim_gene":["608605"],"alias_name":["source of immunodominant MHC associated peptides","dolichyl-diphosphooligosaccharide protein glycotransferase"],"gene_symbol":"STT3B","hgnc_symbol":"STT3B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:31574130-31679112","ensembl_id":"ENSG00000163527"}},"GRch38":{"90":{"location":"3:31532638-31637622","ensembl_id":"ENSG00000163527"}}},"hgnc_date_symbol_changed":"2006-02-07"},"entity_type":"gene","entity_name":"STT3B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23842455"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type Ix 615597"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OFIP","MNR"],"biotype":"protein_coding","hgnc_id":"HGNC:29110","gene_name":"KIAA0753","omim_gene":["617112"],"alias_name":["moonraker","OFD1 and FOPNL interacting protein"],"gene_symbol":"KIAA0753","hgnc_symbol":"KIAA0753","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:6481468-6544247","ensembl_id":"ENSG00000198920"}},"GRch38":{"90":{"location":"17:6578148-6640927","ensembl_id":"ENSG00000198920"}}},"hgnc_date_symbol_changed":"2005-12-13"},"entity_type":"gene","entity_name":"KIAA0753","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31816441","28220259","29138412","26643951","31816441","33875766","34016807"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Orofaciodigital syndrome XV, MIM# 617127","Joubert syndrome 38, MIM# 619476","Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ37587"],"biotype":"protein_coding","hgnc_id":"HGNC:13879","gene_name":"myosin IH","omim_gene":["614636"],"alias_name":null,"gene_symbol":"MYO1H","hgnc_symbol":"MYO1H","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:109785708-109893328","ensembl_id":"ENSG00000174527"}},"GRch38":{"90":{"location":"12:109347903-109455523","ensembl_id":"ENSG00000174527"}}},"hgnc_date_symbol_changed":"2000-11-28"},"entity_type":"gene","entity_name":"MYO1H","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["28779001"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction, MIM#619482"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["OCT3","Oct4","MGC22487"],"biotype":"protein_coding","hgnc_id":"HGNC:9221","gene_name":"POU class 5 homeobox 1","omim_gene":["164177"],"alias_name":null,"gene_symbol":"POU5F1","hgnc_symbol":"POU5F1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31132119-31148508","ensembl_id":"ENSG00000204531"}},"GRch38":{"90":{"location":"6:31164337-31180731","ensembl_id":"ENSG00000204531"}}},"hgnc_date_symbol_changed":"1992-11-05"},"entity_type":"gene","entity_name":"POU5F1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["21273125"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Primary ovarian insufficiency MONDO:0005387, POU5F1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CD246"],"biotype":"protein_coding","hgnc_id":"HGNC:427","gene_name":"ALK receptor tyrosine kinase","omim_gene":["105590"],"alias_name":null,"gene_symbol":"ALK","hgnc_symbol":"ALK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:29415640-30144432","ensembl_id":"ENSG00000171094"}},"GRch38":{"90":{"location":"2:29192774-29921566","ensembl_id":"ENSG00000171094"}}},"hgnc_date_symbol_changed":"1993-08-24"},"entity_type":"gene","entity_name":"ALK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":152,"hash_id":null,"name":"Cancer Predisposition_Paediatric","disease_group":"Cancer","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.133","version_created":"2026-01-12T09:35:45.797477+11:00","relevant_disorders":[],"stats":{"number_of_genes":106,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10493","gene_name":"S100 calcium binding protein A3","omim_gene":["176992"],"alias_name":null,"gene_symbol":"S100A3","hgnc_symbol":"S100A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:153519805-153521848","ensembl_id":"ENSG00000188015"}},"GRch38":{"90":{"location":"1:153547329-153549372","ensembl_id":"ENSG00000188015"}}},"hgnc_date_symbol_changed":"1993-10-04"},"entity_type":"gene","entity_name":"S100A3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40497957","38099297","31073086"],"evidence":["Expert Review Red","Literature","Literature"],"phenotypes":["Pulmonary fibrosis, MONDO:0002771, S100A3-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["digenic"],"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":"1.10","version_created":"2026-03-17T11:39:32.713501+11:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":97,"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":["M8-9","APT6M8-9","ATP6M8-9","PRR","RENR"],"biotype":"protein_coding","hgnc_id":"HGNC:18305","gene_name":"ATPase H+ transporting accessory protein 2","omim_gene":["300556"],"alias_name":["prorenin receptor","renin receptor"],"gene_symbol":"ATP6AP2","hgnc_symbol":"ATP6AP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:40440146-40465889","ensembl_id":"ENSG00000182220"}},"GRch38":{"90":{"location":"X:40579372-40606848","ensembl_id":"ENSG00000182220"}}},"hgnc_date_symbol_changed":"2003-08-29"},"entity_type":"gene","entity_name":"ATP6AP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["23595882"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AS","ANCR","E6-AP","FLJ26981"],"biotype":"protein_coding","hgnc_id":"HGNC:12496","gene_name":"ubiquitin protein ligase E3A","omim_gene":["601623"],"alias_name":["Angelman syndrome"],"gene_symbol":"UBE3A","hgnc_symbol":"UBE3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:25582381-25684128","ensembl_id":"ENSG00000114062"}},"GRch38":{"90":{"location":"15:25333728-25439056","ensembl_id":"ENSG00000114062"}}},"hgnc_date_symbol_changed":"1993-10-21"},"entity_type":"gene","entity_name":"UBE3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC33835","dJ510O8.8","Tmhs"],"biotype":"protein_coding","hgnc_id":"HGNC:21253","gene_name":"LHFPL tetraspan subfamily member 5","omim_gene":["609427"],"alias_name":["tetraspan membrane protein of hair cell stereocilia"],"gene_symbol":"LHFPL5","hgnc_symbol":"LHFPL5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:35773070-35801651","ensembl_id":"ENSG00000197753"}},"GRch38":{"90":{"location":"6:35805293-35833874","ensembl_id":"ENSG00000197753"}}},"hgnc_date_symbol_changed":"2003-11-26"},"entity_type":"gene","entity_name":"LHFPL5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16459341","16752389","21816241","19888295","26437881","26029705","15905332","19102128","25550511"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal recessive 67, MIM# 610265"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LESTR","NPY3R","HM89","NPYY3R","D2S201E","fusin","HSY3RR","NPYR","CD184"],"biotype":"protein_coding","hgnc_id":"HGNC:2561","gene_name":"C-X-C motif chemokine receptor 4","omim_gene":["162643"],"alias_name":null,"gene_symbol":"CXCR4","hgnc_symbol":"CXCR4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:136871919-136875735","ensembl_id":"ENSG00000121966"}},"GRch38":{"90":{"location":"2:136114349-136118165","ensembl_id":"ENSG00000121966"}}},"hgnc_date_symbol_changed":"1998-09-17"},"entity_type":"gene","entity_name":"CXCR4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12692554","15536153","23009155"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["WHIM syndrome 1, MIM# 193670"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":231,"hash_id":null,"name":"Defects of intrinsic and innate immunity","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause defects in intrinsic and innate immunity, including the following:\r\n- Mendelian susceptibility to mycobacterial disease (MSMD)\r\n- Epidermodysplasia verruciformis (HPV)\r\n- Predisposition to severe viral infection\r\n- Herpes simplex encephalitis (HSE)\r\n- Predisposition to mucocutaneous candidiasis\r\n- Other inborn errors of immunity related to non-haematopoietic tissues\r\n- Other inborn errors of immunity related to leukocytes\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.36","version_created":"2026-04-08T12:35:08.612526+10:00","relevant_disorders":["Unusual infections","HP:0032101"],"stats":{"number_of_genes":86,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EN-7"],"biotype":"protein_coding","hgnc_id":"HGNC:9802","gene_name":"Rac family small GTPase 2","omim_gene":["602049"],"alias_name":null,"gene_symbol":"RAC2","hgnc_symbol":"RAC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:37621301-37640488","ensembl_id":"ENSG00000128340"}},"GRch38":{"90":{"location":"22:37225261-37244448","ensembl_id":"ENSG00000128340"}}},"hgnc_date_symbol_changed":"1993-11-05"},"entity_type":"gene","entity_name":"RAC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["32198141","31919089","31382036","31071452","30723080","30654050"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["SCID","recurrent bacterial and viral infections","lymphoproliferation","neutropaenia","reticular dysgenesis","deafness"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":235,"hash_id":null,"name":"Severe Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with severe combined immunodeficiency (SCID), including the following:\r\n- SCID with absent T present B cells\r\n- SCID with absent T absent B cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.30","version_created":"2026-03-02T10:27:29.970169+11:00","relevant_disorders":["Severe combined immunodeficiency","HP:0004430"],"stats":{"number_of_genes":28,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["EEF1AL","HS1"],"biotype":"protein_coding","hgnc_id":"HGNC:3192","gene_name":"eukaryotic translation elongation factor 1 alpha 2","omim_gene":["602959"],"alias_name":null,"gene_symbol":"EEF1A2","hgnc_symbol":"EEF1A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:62119366-62130505","ensembl_id":"ENSG00000101210"}},"GRch38":{"90":{"location":"20:63488013-63499315","ensembl_id":"ENSG00000101210"}}},"hgnc_date_symbol_changed":"1995-08-15"},"entity_type":"gene","entity_name":"EEF1A2","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":["24697219","32196822","32160274","32062104","31893083"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Mental retardation, autosomal dominant 38, MIM# 616393","MONDO:0014617","Developmental and epileptic encephalopathy 33, MIM# 616409","MONDO:0014625"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["4-HPPD","4HPPD","GLOD3"],"biotype":"protein_coding","hgnc_id":"HGNC:5147","gene_name":"4-hydroxyphenylpyruvate dioxygenase","omim_gene":["609695"],"alias_name":["glyoxalase domain containing 3"],"gene_symbol":"HPD","hgnc_symbol":"HPD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:122277433-122301502","ensembl_id":"ENSG00000158104"}},"GRch38":{"90":{"location":"12:121839527-121863596","ensembl_id":"ENSG00000158104"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"HPD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31537781"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["tyrosinemia type III MONDO:0010162"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP434G145"],"biotype":"protein_coding","hgnc_id":"HGNC:18654","gene_name":"rotatin","omim_gene":["610436"],"alias_name":null,"gene_symbol":"RTTN","hgnc_symbol":"RTTN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:67671029-67873181","ensembl_id":"ENSG00000176225"}},"GRch38":{"90":{"location":"18:70003031-70205945","ensembl_id":"ENSG00000176225"}}},"hgnc_date_symbol_changed":"2002-07-11"},"entity_type":"gene","entity_name":"RTTN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22939636","26608784","26940245","30121372","29967526","30927481","30121372"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833","Microcephalic primordial dwarfism due to RTTN deficiency MONDO:0018764"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BAF47","Ini1","Snr1","hSNFS","Sfh1p","RDT","PPP1R144"],"biotype":"protein_coding","hgnc_id":"HGNC:11103","gene_name":"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1","omim_gene":["601607"],"alias_name":["sucrose nonfermenting, yeast, homolog-like 1","integrase interactor 1","malignant rhabdoid tumor suppressor","protein phosphatase 1, regulatory subunit 144"],"gene_symbol":"SMARCB1","hgnc_symbol":"SMARCB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:24129150-24176703","ensembl_id":"ENSG00000099956"}},"GRch38":{"90":{"location":"22:23786963-23834516","ensembl_id":"ENSG00000099956"}}},"hgnc_date_symbol_changed":"1995-08-21"},"entity_type":"gene","entity_name":"SMARCB1","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":["22426308","29907796","3175698","23556151"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Coffin-Siris syndrome 3 (MIM# 614608)","MONDO:0015452"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. 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compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0036","NPHP5","SLSN5"],"biotype":"protein_coding","hgnc_id":"HGNC:28949","gene_name":"IQ motif containing B1","omim_gene":["609237"],"alias_name":["nephrocystin-5"],"gene_symbol":"IQCB1","hgnc_symbol":"IQCB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:121488610-121553926","ensembl_id":"ENSG00000173226"}},"GRch38":{"90":{"location":"3:121769763-121835079","ensembl_id":"ENSG00000173226"}}},"hgnc_date_symbol_changed":"2004-03-05"},"entity_type":"gene","entity_name":"IQCB1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Emory Genetics Laboratory","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ13119","FAM42A","HsT19294","RIA1"],"biotype":"protein_coding","hgnc_id":"HGNC:25789","gene_name":"elongation factor like GTPase 1","omim_gene":["617538"],"alias_name":["ribosome assembly 1 homolog (yeast)"],"gene_symbol":"EFL1","hgnc_symbol":"EFL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:82422571-82555104","ensembl_id":"ENSG00000140598"}},"GRch38":{"90":{"location":"15:82130230-82262763","ensembl_id":"ENSG00000140598"}}},"hgnc_date_symbol_changed":"2016-01-05"},"entity_type":"gene","entity_name":"EFL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["617941 SHWACHMAN-DIAMOND SYNDROME 2","SDS2"],"mode_of_inheritance":"BIALLELIC, autosomal or 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GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ASRG"],"biotype":"protein_coding","hgnc_id":"HGNC:318","gene_name":"aspartylglucosaminidase","omim_gene":["613228"],"alias_name":["glycosylasparaginase","N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"],"gene_symbol":"AGA","hgnc_symbol":"AGA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:178351924-178363657","ensembl_id":"ENSG00000038002"}},"GRch38":{"90":{"location":"4:177430770-177442503","ensembl_id":"ENSG00000038002"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"AGA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["1703489","1904874","8064811","8946839"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","NHS GMS","Expert list","Emory Genetics Laboratory","Expert list","Victorian Clinical Genetics 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Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.65","version_created":"2026-01-21T10:59:30.179226+11:00","relevant_disorders":["Limb-girdle muscular dystrophy","MONDO:0016971; Proximal muscle weakness","HP:0003701; Distal myopathy MONDO:0018949"],"stats":{"number_of_genes":102,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MDT1","SDR7C1","ARSDR1"],"biotype":"protein_coding","hgnc_id":"HGNC:17964","gene_name":"retinol dehydrogenase 11 (all-trans/9-cis/11-cis)","omim_gene":["607849"],"alias_name":["short chain dehydrogenase/reductase family 7C, member 1","androgen-regulated short-chain dehydrogenase/reductase 1"],"gene_symbol":"RDH11","hgnc_symbol":"RDH11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:68143518-68162531","ensembl_id":"ENSG00000072042"}},"GRch38":{"90":{"location":"14:67676801-67695814","ensembl_id":"ENSG00000072042"}}},"hgnc_date_symbol_changed":"2002-12-11"},"entity_type":"gene","entity_name":"RDH11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24916380","15634683","30731079","18326732","34988992"],"evidence":["Expert Review Green","RetNet"],"phenotypes":["Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.256","version_created":"2026-03-31T19:05:29.271183+11:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":138,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP564I122","cblC"],"biotype":"protein_coding","hgnc_id":"HGNC:24525","gene_name":"methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria","omim_gene":["609831"],"alias_name":null,"gene_symbol":"MMACHC","hgnc_symbol":"MMACHC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45965725-45976739","ensembl_id":"ENSG00000132763"}},"GRch38":{"90":{"location":"1:45500053-45513382","ensembl_id":"ENSG00000132763"}}},"hgnc_date_symbol_changed":"2006-01-12"},"entity_type":"gene","entity_name":"MMACHC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ATPSK2"],"biotype":"protein_coding","hgnc_id":"HGNC:8604","gene_name":"3'-phosphoadenosine 5'-phosphosulfate synthase 2","omim_gene":["603005"],"alias_name":["sulfate adenylyltransferase","adenylyl-sulfate kinase","adenosine 5'-phosphosulfate kinase","bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2"],"gene_symbol":"PAPSS2","hgnc_symbol":"PAPSS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:89419370-89507462","ensembl_id":"ENSG00000198682"}},"GRch38":{"90":{"location":"10:87659613-87747705","ensembl_id":"ENSG00000198682"}}},"hgnc_date_symbol_changed":"1999-01-29"},"entity_type":"gene","entity_name":"PAPSS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8840","gene_name":"peptidase D","omim_gene":["613230"],"alias_name":["prolidase"],"gene_symbol":"PEPD","hgnc_symbol":"PEPD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:33877856-34012700","ensembl_id":"ENSG00000124299"}},"GRch38":{"90":{"location":"19:33386950-33521794","ensembl_id":"ENSG00000124299"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PEPD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Prolidase deficiency, 170100 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HT019","P105","GKLP","NKTL","TAPK","TRAP","TEIF","MGC78454"],"biotype":"protein_coding","hgnc_id":"HGNC:14372","gene_name":"SCY1 like pseudokinase 1","omim_gene":["607982"],"alias_name":["teratoma-associated tyrosine kinase","telomerase transcriptional elements-interacting factor","telomerase regulation-associated protein"],"gene_symbol":"SCYL1","hgnc_symbol":"SCYL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65292548-65306175","ensembl_id":"ENSG00000142186"}},"GRch38":{"90":{"location":"11:65525077-65538704","ensembl_id":"ENSG00000142186"}}},"hgnc_date_symbol_changed":"2002-11-29"},"entity_type":"gene","entity_name":"SCYL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 21, 616719 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1775","CORD15","RP65"],"biotype":"protein_coding","hgnc_id":"HGNC:14550","gene_name":"cadherin related family member 1","omim_gene":["609502"],"alias_name":null,"gene_symbol":"CDHR1","hgnc_symbol":"CDHR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:85954410-85979377","ensembl_id":"ENSG00000148600"}},"GRch38":{"90":{"location":"10:84194635-84219621","ensembl_id":"ENSG00000148600"}}},"hgnc_date_symbol_changed":"2010-01-25"},"entity_type":"gene","entity_name":"CDHR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30679166"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Cone-rod dystrophy 15, 613660"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3147,"hash_id":null,"name":"Cone-rod Dystrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause non-syndromic cone and cone-rod dystrophies, characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. This panel was developed and is maintained by RMH, and is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.","status":"public","version":"0.67","version_created":"2026-04-01T10:29:43.490911+11:00","relevant_disorders":["Retinal dystrophy","HP:0000556"],"stats":{"number_of_genes":41,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Sm-E"],"biotype":"protein_coding","hgnc_id":"HGNC:11161","gene_name":"small nuclear ribonucleoprotein polypeptide E","omim_gene":["128260"],"alias_name":null,"gene_symbol":"SNRPE","hgnc_symbol":"SNRPE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:203830731-203839678","ensembl_id":"ENSG00000182004"}},"GRch38":{"90":{"location":"1:203861603-203870550","ensembl_id":"ENSG00000182004"}}},"hgnc_date_symbol_changed":"1988-11-28"},"entity_type":"gene","entity_name":"SNRPE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23246290"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Hypotrichosis 11 MIM#615059"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3269,"hash_id":null,"name":"Hair disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause syndromic and non-syndromic disorders that have hair abnormalities as a prominent feature of the condition. \r\n\r\nThe conditions include: hypotrichosis, hair shaft disorders with/without hair fragility, ectodermal dysplasias, trichorhinophalangeal syndrome, and atrichia with papular lesions.\r\nFor hypertrichosis the Hypertrichosis syndromes gene panel is more suitable.\r\n\r\nThe panel was developed and is maintained by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.84","version_created":"2026-03-30T12:08:41.487037+11:00","relevant_disorders":["Abnormal hair morphology","HP:0001595"],"stats":{"number_of_genes":60,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ16686"],"biotype":"protein_coding","hgnc_id":"HGNC:37261","gene_name":"death domain containing 1","omim_gene":["616979"],"alias_name":null,"gene_symbol":"DTHD1","hgnc_symbol":"DTHD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:36283244-36347378","ensembl_id":"ENSG00000197057"}},"GRch38":{"90":{"location":"4:36281622-36345756","ensembl_id":"ENSG00000197057"}}},"hgnc_date_symbol_changed":"2009-10-02"},"entity_type":"gene","entity_name":"DTHD1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Leber congenital amaurosis with myopathy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ATK","XLA","PSCTK1"],"biotype":"protein_coding","hgnc_id":"HGNC:1133","gene_name":"Bruton tyrosine kinase","omim_gene":["300300"],"alias_name":["Bruton's tyrosine kinase"],"gene_symbol":"BTK","hgnc_symbol":"BTK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:100604435-100641183","ensembl_id":"ENSG00000010671"}},"GRch38":{"90":{"location":"X:101349447-101390796","ensembl_id":"ENSG00000010671"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"BTK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Agammaglobulinemia, X-linked 1"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Car2","CA-II","CAII"],"biotype":"protein_coding","hgnc_id":"HGNC:1373","gene_name":"carbonic anhydrase 2","omim_gene":["611492"],"alias_name":null,"gene_symbol":"CA2","hgnc_symbol":"CA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:86376081-86393722","ensembl_id":"ENSG00000104267"}},"GRch38":{"90":{"location":"8:85463852-85481493","ensembl_id":"ENSG00000104267"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Osteopetrosis, autosomal recessive 3, with renal tubular acidosis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kv1.1","RBK1","HUK1","MBK1"],"biotype":"protein_coding","hgnc_id":"HGNC:6218","gene_name":"potassium voltage-gated channel subfamily A member 1","omim_gene":["176260"],"alias_name":null,"gene_symbol":"KCNA1","hgnc_symbol":"KCNA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:5019071-5040527","ensembl_id":"ENSG00000111262"}},"GRch38":{"90":{"location":"12:4909893-4918256","ensembl_id":"ENSG00000111262"}}},"hgnc_date_symbol_changed":"1991-08-13"},"entity_type":"gene","entity_name":"KCNA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Episodic ataxia type 1"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ11712"],"biotype":"protein_coding","hgnc_id":"HGNC:25671","gene_name":"ribonuclease H2 subunit B","omim_gene":["610326"],"alias_name":null,"gene_symbol":"RNASEH2B","hgnc_symbol":"RNASEH2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:51483814-51544592","ensembl_id":"ENSG00000136104"}},"GRch38":{"90":{"location":"13:50909678-50973745","ensembl_id":"ENSG00000136104"}}},"hgnc_date_symbol_changed":"2006-08-17"},"entity_type":"gene","entity_name":"RNASEH2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Aicardi-Goutieres syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TF6","FLJ36137","SPG57"],"biotype":"protein_coding","hgnc_id":"HGNC:11758","gene_name":"TRK-fused gene","omim_gene":["602498"],"alias_name":null,"gene_symbol":"TFG","hgnc_symbol":"TFG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:100428205-100467810","ensembl_id":"ENSG00000114354"}},"GRch38":{"90":{"location":"3:100709331-100748966","ensembl_id":"ENSG00000114354"}}},"hgnc_date_symbol_changed":"1999-06-14"},"entity_type":"gene","entity_name":"TFG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Hereditary motor and sensory neuropathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MRG1"],"biotype":"protein_coding","hgnc_id":"HGNC:1987","gene_name":"Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2","omim_gene":["602937"],"alias_name":null,"gene_symbol":"CITED2","hgnc_symbol":"CITED2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:139693393-139695757","ensembl_id":"ENSG00000164442"}},"GRch38":{"90":{"location":"6:139371807-139374620","ensembl_id":"ENSG00000164442"}}},"hgnc_date_symbol_changed":"1999-06-11"},"entity_type":"gene","entity_name":"CITED2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Congenital heart defects"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1385"],"biotype":"protein_coding","hgnc_id":"HGNC:15465","gene_name":"gephyrin","omim_gene":["603930"],"alias_name":null,"gene_symbol":"GPHN","hgnc_symbol":"GPHN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:66974125-67648520","ensembl_id":"ENSG00000171723"}},"GRch38":{"90":{"location":"14:66507407-67181803","ensembl_id":"ENSG00000171723"}}},"hgnc_date_symbol_changed":"2001-03-30"},"entity_type":"gene","entity_name":"GPHN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Hyperekplexia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SPH1"],"biotype":"protein_coding","hgnc_id":"HGNC:492","gene_name":"ankyrin 1","omim_gene":["612641"],"alias_name":null,"gene_symbol":"ANK1","hgnc_symbol":"ANK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:41510739-41754280","ensembl_id":"ENSG00000029534"}},"GRch38":{"90":{"location":"8:41653220-41896762","ensembl_id":"ENSG00000029534"}}},"hgnc_date_symbol_changed":"1989-06-06"},"entity_type":"gene","entity_name":"ANK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7883994","9590147","11167760","8640229"],"evidence":["Expert Review Green","Yorkshire and North East GLH","NHS GMS","Wessex and West Midlands GLH","North West GLH","London South GLH"],"phenotypes":["Spherocytosis, type 1, MIM# 182900"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":3366,"hash_id":null,"name":"Red cell disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.","status":"public","version":"1.52","version_created":"2026-03-28T15:18:36.006857+11:00","relevant_disorders":["Abnormal erythrocyte morphology","HP:0001877"],"stats":{"number_of_genes":116,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EMTB","S14"],"biotype":"protein_coding","hgnc_id":"HGNC:10387","gene_name":"ribosomal protein S14","omim_gene":["130620"],"alias_name":["emetine resistance","40S ribosomal protein S14"],"gene_symbol":"RPS14","hgnc_symbol":"RPS14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:149822753-149829319","ensembl_id":"ENSG00000164587"}},"GRch38":{"90":{"location":"5:150443190-150449756","ensembl_id":"ENSG00000164587"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"RPS14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NSW Health Pathology","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3437,"hash_id":null,"name":"Incidentalome_PREGEN_DRAFT","disease_group":"","disease_sub_group":"","description":"Imported to facilitate update work. Do not use while labeled as DRAFT","status":"public","version":"0.43","version_created":"2021-01-20T16:42:09.286633+11:00","relevant_disorders":[],"stats":{"number_of_genes":173,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7059","gene_name":"O-6-methylguanine-DNA methyltransferase","omim_gene":["156569"],"alias_name":["methylated-DNA--protein-cysteine methyltransferase"],"gene_symbol":"MGMT","hgnc_symbol":"MGMT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:131265448-131566271","ensembl_id":"ENSG00000170430"}},"GRch38":{"90":{"location":"10:129467184-129768007","ensembl_id":"ENSG00000170430"}}},"hgnc_date_symbol_changed":"1989-10-16"},"entity_type":"gene","entity_name":"MGMT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NSW Health Pathology","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3437,"hash_id":null,"name":"Incidentalome_PREGEN_DRAFT","disease_group":"","disease_sub_group":"","description":"Imported to facilitate update work. Do not use while labeled as DRAFT","status":"public","version":"0.43","version_created":"2021-01-20T16:42:09.286633+11:00","relevant_disorders":[],"stats":{"number_of_genes":173,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SHK"],"biotype":"protein_coding","hgnc_id":"HGNC:1492","gene_name":"sedoheptulokinase","omim_gene":["605060"],"alias_name":null,"gene_symbol":"SHPK","hgnc_symbol":"SHPK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:3511556-3539616","ensembl_id":"ENSG00000197417"}},"GRch38":{"90":{"location":"17:3608262-3636322","ensembl_id":"ENSG00000197417"}}},"hgnc_date_symbol_changed":"2008-02-08"},"entity_type":"gene","entity_name":"SHPK","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["25647543","27604308"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Sedoheptulokinase deficiency MIM#617213"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). 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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6315","gene_name":"ketohexokinase","omim_gene":["614058"],"alias_name":["fructokinase"],"gene_symbol":"KHK","hgnc_symbol":"KHK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:27309615-27323640","ensembl_id":"ENSG00000138030"}},"GRch38":{"90":{"location":"2:27086747-27100772","ensembl_id":"ENSG00000138030"}}},"hgnc_date_symbol_changed":"1994-12-19"},"entity_type":"gene","entity_name":"KHK","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["7833921","27604308","29870677"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Fructosuria MIM#229800","Disorders of fructose metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). 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":["RTS","CBP","KAT3A"],"biotype":"protein_coding","hgnc_id":"HGNC:2348","gene_name":"CREB binding protein","omim_gene":["600140"],"alias_name":null,"gene_symbol":"CREBBP","hgnc_symbol":"CREBBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:3775055-3930727","ensembl_id":"ENSG00000005339"}},"GRch38":{"90":{"location":"16:3725054-3880726","ensembl_id":"ENSG00000005339"}}},"hgnc_date_symbol_changed":"1995-01-10"},"entity_type":"gene","entity_name":"CREBBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10699051","17855048","27311832","29460469"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Rubinstein-Taybi syndrome 1, MIM# 180849","Menke-Hennekam syndrome 1, MIM# 618332"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2185","gene_name":"collagen type X alpha 1 chain","omim_gene":["120110"],"alias_name":["Schmid metaphyseal chondrodysplasia"],"gene_symbol":"COL10A1","hgnc_symbol":"COL10A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:116440086-116479910","ensembl_id":"ENSG00000123500"}},"GRch38":{"90":{"location":"6:116118923-116158747","ensembl_id":"ENSG00000123500"}}},"hgnc_date_symbol_changed":"1991-10-07"},"entity_type":"gene","entity_name":"COL10A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15880705","31633898","31348255","25542771"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Metaphyseal chondrodysplasia, Schmid type, MIM#156500"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LGCR","GC79"],"biotype":"protein_coding","hgnc_id":"HGNC:12340","gene_name":"transcriptional repressor GATA binding 1","omim_gene":["604386"],"alias_name":null,"gene_symbol":"TRPS1","hgnc_symbol":"TRPS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:116420724-116821899","ensembl_id":"ENSG00000104447"}},"GRch38":{"90":{"location":"8:115408496-115809673","ensembl_id":"ENSG00000104447"}}},"hgnc_date_symbol_changed":"1995-07-06"},"entity_type":"gene","entity_name":"TRPS1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["10615131","11950061","11112658"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Trichorhinophalangeal syndrome, type I, OMIM #190350","Trichorhinophalangeal syndrome, type III, OMIM #190351"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12786","gene_name":"Wnt family member 7A","omim_gene":["601570"],"alias_name":["proto-oncogene Wnt7a protein"],"gene_symbol":"WNT7A","hgnc_symbol":"WNT7A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:13857755-13921618","ensembl_id":"ENSG00000154764"}},"GRch38":{"90":{"location":"3:13816258-13880121","ensembl_id":"ENSG00000154764"}}},"hgnc_date_symbol_changed":"1996-03-12"},"entity_type":"gene","entity_name":"WNT7A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21344627","20949531","16826533"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Fuhrmann syndrome, MIM# 228930","Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ZNF698","bA145L22","bA145L22.2"],"biotype":"protein_coding","hgnc_id":"HGNC:18791","gene_name":"ZFP57 zinc finger protein","omim_gene":["612192"],"alias_name":null,"gene_symbol":"ZFP57","hgnc_symbol":"ZFP57","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:29640169-29648887","ensembl_id":"ENSG00000204644"}},"GRch38":{"90":{"location":"6:29672392-29681110","ensembl_id":"ENSG00000204644"}}},"hgnc_date_symbol_changed":"2005-07-20"},"entity_type":"gene","entity_name":"ZFP57","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Diabetes mellitus, transient neonatal 1, OMIM #601410"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10889","gene_name":"SIX homeobox 3","omim_gene":["603714"],"alias_name":null,"gene_symbol":"SIX3","hgnc_symbol":"SIX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:45168902-45173216","ensembl_id":"ENSG00000138083"}},"GRch38":{"90":{"location":"2:44941898-44946077","ensembl_id":"ENSG00000138083"}}},"hgnc_date_symbol_changed":"1998-04-21"},"entity_type":"gene","entity_name":"SIX3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20157829","21976454"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Holoprosencephaly 2, MIM# 157170","Schizencephaly (MIM#269160)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["beta-catenin","armadillo"],"biotype":"protein_coding","hgnc_id":"HGNC:2514","gene_name":"catenin beta 1","omim_gene":["116806"],"alias_name":null,"gene_symbol":"CTNNB1","hgnc_symbol":"CTNNB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:41236328-41301587","ensembl_id":"ENSG00000168036"}},"GRch38":{"90":{"location":"3:41194837-41260096","ensembl_id":"ENSG00000168036"}}},"hgnc_date_symbol_changed":"1993-07-13"},"entity_type":"gene","entity_name":"CTNNB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23033978","24614104","25326669","27915094"],"evidence":["Expert Review Green","Genomics England PanelApp","Literature"],"phenotypes":["Neurodevelopmental disorder with spastic diplegia and visual defects , MIM#615075"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GCSFR"],"biotype":"protein_coding","hgnc_id":"HGNC:2439","gene_name":"colony stimulating factor 3 receptor","omim_gene":["138971"],"alias_name":null,"gene_symbol":"CSF3R","hgnc_symbol":"CSF3R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:36931644-36948879","ensembl_id":"ENSG00000119535"}},"GRch38":{"90":{"location":"1:36466043-36483278","ensembl_id":"ENSG00000119535"}}},"hgnc_date_symbol_changed":"1990-12-10"},"entity_type":"gene","entity_name":"CSF3R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Expert list"],"phenotypes":["Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3829,"hash_id":null,"name":"IBMDx study","disease_group":"","disease_sub_group":"","description":"The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2,  BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.","status":"public","version":"0.42","version_created":"2026-03-19T18:45:41.236506+11:00","relevant_disorders":[],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Research","slug":"research","description":"Research panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP434G099"],"biotype":"protein_coding","hgnc_id":"HGNC:16075","gene_name":"RAB33B, member RAS oncogene family","omim_gene":["605950"],"alias_name":null,"gene_symbol":"RAB33B","hgnc_symbol":"RAB33B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:140374386-140397763","ensembl_id":"ENSG00000172007"}},"GRch38":{"90":{"location":"4:139453232-139476609","ensembl_id":"ENSG00000172007"}}},"hgnc_date_symbol_changed":"2001-09-14"},"entity_type":"gene","entity_name":"RAB33B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["35477554","34000439","22652534","28127940","23042644","34284742"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Smith-McCort dysplasia 2, MIM #615222"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1851"],"biotype":"protein_coding","hgnc_id":"HGNC:22932","gene_name":"GDP-mannose pyrophosphorylase B","omim_gene":["615320"],"alias_name":["mannose-1-phosphate guanyltransferase beta"],"gene_symbol":"GMPPB","hgnc_symbol":"GMPPB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:49754277-49761384","ensembl_id":"ENSG00000173540"}},"GRch38":{"90":{"location":"3:49716844-49723951","ensembl_id":"ENSG00000173540"}}},"hgnc_date_symbol_changed":"2005-01-10"},"entity_type":"gene","entity_name":"GMPPB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["36833299"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350","Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 615351","Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LGMD2K"],"biotype":"protein_coding","hgnc_id":"HGNC:9202","gene_name":"protein O-mannosyltransferase 1","omim_gene":["607423"],"alias_name":["dolichyl-phosphate-mannose-protein mannosyltransferase"],"gene_symbol":"POMT1","hgnc_symbol":"POMT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:134378289-134399193","ensembl_id":"ENSG00000130714"}},"GRch38":{"90":{"location":"9:131502902-131523806","ensembl_id":"ENSG00000130714"}}},"hgnc_date_symbol_changed":"1999-06-25"},"entity_type":"gene","entity_name":"POMT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15792865","22549409","31311558","20065251","25088310","19299310","19299310"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Myopathy caused by variation in POMT1 MONDO:0700070"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:29561","gene_name":"ARV1 homolog, fatty acid homeostasis modulator","omim_gene":["611647"],"alias_name":null,"gene_symbol":"ARV1","hgnc_symbol":"ARV1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:231114727-231136341","ensembl_id":"ENSG00000173409"}},"GRch38":{"90":{"location":"1:230978981-231000595","ensembl_id":"ENSG00000173409"}}},"hgnc_date_symbol_changed":"2004-11-17"},"entity_type":"gene","entity_name":"ARV1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Epileptic encephalopathy, early infantile, 38, 617020 (3), Autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RPA40","RPA39","RPA5","RPAC1"],"biotype":"protein_coding","hgnc_id":"HGNC:20194","gene_name":"RNA polymerase I subunit C","omim_gene":["610060"],"alias_name":null,"gene_symbol":"POLR1C","hgnc_symbol":"POLR1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:43477440-43497323","ensembl_id":"ENSG00000171453"}},"GRch38":{"90":{"location":"6:43509702-43529585","ensembl_id":"ENSG00000171453"}}},"hgnc_date_symbol_changed":"2003-04-01"},"entity_type":"gene","entity_name":"POLR1C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26151409","21131976","30957429","32042905"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leukodystrophy, hypomyelinating, 11 MIM#616494","Treacher Collins syndrome 3 MIM#248390"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KCS1","pac2"],"biotype":"protein_coding","hgnc_id":"HGNC:11582","gene_name":"tubulin folding cofactor E","omim_gene":["604934"],"alias_name":null,"gene_symbol":"TBCE","hgnc_symbol":"TBCE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:235530675-235612283","ensembl_id":"ENSG00000116957"}},"GRch38":{"90":{"location":"1:235367360-235448968","ensembl_id":"ENSG00000116957"}}},"hgnc_date_symbol_changed":"1998-07-31"},"entity_type":"gene","entity_name":"TBCE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27666369"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["hypoparathyroidism-retardation-dysmorphism syndrome MONDO:0009426"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3894,"hash_id":null,"name":"Familial hypoparathyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Calcium disorders","description":"This panel contains genes associated with familial hypoparathyroidism. \r\n\r\nIt has been compared against the Genomics England PanelApp 'familial hypoparathyroidism' panel V3.1, with all discrepancies reviewed and resolved (August 2025).","status":"public","version":"1.13","version_created":"2026-01-29T12:46:06.444681+11:00","relevant_disorders":[],"stats":{"number_of_genes":8,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TR","hTR","TRC3","SCARNA19"],"biotype":"lincRNA","hgnc_id":"HGNC:11727","gene_name":"telomerase RNA component","omim_gene":["602322"],"alias_name":["small Cajal body-specific RNA 19"],"gene_symbol":"TERC","hgnc_symbol":"TERC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:169482308-169482848","ensembl_id":"ENSG00000270141"}},"GRch38":{"90":{"location":"3:169764520-169765060","ensembl_id":"ENSG00000270141"}}},"hgnc_date_symbol_changed":"1997-07-25"},"entity_type":"gene","entity_name":"TERC","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category B gene","Expert Review Amber"],"phenotypes":["Dyskeratosis congenita"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["non-coding gene"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PTI","CAP"],"biotype":"protein_coding","hgnc_id":"HGNC:8950","gene_name":"serpin family B member 6","omim_gene":["173321"],"alias_name":["cytoplasmic antiproteinase"],"gene_symbol":"SERPINB6","hgnc_symbol":"SERPINB6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:2948393-2972090","ensembl_id":"ENSG00000124570"}},"GRch38":{"90":{"location":"6:2948159-2972165","ensembl_id":"ENSG00000124570"}}},"hgnc_date_symbol_changed":"1994-07-20"},"entity_type":"gene","entity_name":"SERPINB6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Deafness, autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7562","gene_name":"myeloid differentiation primary response 88","omim_gene":["602170"],"alias_name":null,"gene_symbol":"MYD88","hgnc_symbol":"MYD88","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:38179969-38184513","ensembl_id":"ENSG00000172936"}},"GRch38":{"90":{"location":"3:38138478-38143022","ensembl_id":"ENSG00000172936"}}},"hgnc_date_symbol_changed":"1997-12-23"},"entity_type":"gene","entity_name":"MYD88","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["18669862","20538326","31301515"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency 68, MIM# 612260"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CLC-7","OPTA2","CLC7","ClC-7","PPP1R63"],"biotype":"protein_coding","hgnc_id":"HGNC:2025","gene_name":"chloride voltage-gated channel 7","omim_gene":["602727"],"alias_name":["protein phosphatase 1, regulatory subunit 63"],"gene_symbol":"CLCN7","hgnc_symbol":"CLCN7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:1494935-1525581","ensembl_id":"ENSG00000103249"}},"GRch38":{"90":{"location":"16:1444934-1475580","ensembl_id":"ENSG00000103249"}}},"hgnc_date_symbol_changed":"1997-04-21"},"entity_type":"gene","entity_name":"CLCN7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene","BeginNGS"],"phenotypes":["Osteopetrosis, autosomal recessive 4, MIM# 611490"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","skeletal"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7526","gene_name":"methylmalonyl-CoA mutase","omim_gene":["609058"],"alias_name":null,"gene_symbol":"MUT","hgnc_symbol":"MUT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:49398073-49430904","ensembl_id":"ENSG00000146085"}},"GRch38":{"90":{"location":"6:49430360-49463191","ensembl_id":"ENSG00000146085"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MUT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Methylmalonic aciduria, mut(0) type, MIM#\t251000"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11943","gene_name":"troponin C1, slow skeletal and cardiac type","omim_gene":["191040"],"alias_name":null,"gene_symbol":"TNNC1","hgnc_symbol":"TNNC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:52485118-52488086","ensembl_id":"ENSG00000114854"}},"GRch38":{"90":{"location":"3:52451102-52454070","ensembl_id":"ENSG00000114854"}}},"hgnc_date_symbol_changed":"1989-12-11"},"entity_type":"gene","entity_name":"TNNC1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category B gene","Expert Review Amber"],"phenotypes":["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; 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":["FBH","FBH2","FHH2"],"biotype":"protein_coding","hgnc_id":"HGNC:4379","gene_name":"G protein subunit alpha 11","omim_gene":["139313"],"alias_name":null,"gene_symbol":"GNA11","hgnc_symbol":"GNA11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:3094408-3124002","ensembl_id":"ENSG00000088256"}},"GRch38":{"90":{"location":"19:3094410-3124004","ensembl_id":"ENSG00000088256"}}},"hgnc_date_symbol_changed":"1992-07-20"},"entity_type":"gene","entity_name":"GNA11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27334330","23802536","23802516","26818911","24823460"],"evidence":["Expert Review Green","KidGen_CalcPhos v38.1.0","Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Hypocalciuric hypercalcemia, type II MIM#145981","Hypocalcemia, autosomal dominant 2 MIM#615361"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OSP-L","CPETRL3"],"biotype":"protein_coding","hgnc_id":"HGNC:2033","gene_name":"claudin 10","omim_gene":["617579"],"alias_name":null,"gene_symbol":"CLDN10","hgnc_symbol":"CLDN10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:96085858-96232013","ensembl_id":"ENSG00000134873"}},"GRch38":{"90":{"location":"13:95433604-95579759","ensembl_id":"ENSG00000134873"}}},"hgnc_date_symbol_changed":"1999-01-22"},"entity_type":"gene","entity_name":"CLDN10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28686597"],"evidence":["Expert Review Green","KidGen_Magnesium v38.1.0","Expert Review Green","KidGen_Magnesium v38.1.0"],"phenotypes":["HELIX syndrome, MIM#617671"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["gC1Q-R","gC1qR","p32","SF2p32"],"biotype":"protein_coding","hgnc_id":"HGNC:1243","gene_name":"complement C1q binding protein","omim_gene":["601269"],"alias_name":["C1q globular domain-binding protein","hyaluronan-binding protein 1","splicing factor SF2-associated protein"],"gene_symbol":"C1QBP","hgnc_symbol":"C1QBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:5336097-5352150","ensembl_id":"ENSG00000108561"}},"GRch38":{"90":{"location":"17:5432777-5448830","ensembl_id":"ENSG00000108561"}}},"hgnc_date_symbol_changed":"1995-12-11"},"entity_type":"gene","entity_name":"C1QBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28942965"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Combined oxidative phosphorylation deficiency 33, MIM#617713"],"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":["cybS"],"biotype":"protein_coding","hgnc_id":"HGNC:10683","gene_name":"succinate dehydrogenase complex subunit D","omim_gene":["602690"],"alias_name":["small subunit of cytochrome b"],"gene_symbol":"SDHD","hgnc_symbol":"SDHD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:111957497-111990353","ensembl_id":"ENSG00000204370"}},"GRch38":{"90":{"location":"11:112086773-112120013","ensembl_id":"ENSG00000204370"}}},"hgnc_date_symbol_changed":"1997-10-21"},"entity_type":"gene","entity_name":"SDHD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Paragangliomas 1, MONDO:0008192","Pheochromocytoma, MONDO:0008233","Hereditary pheochromocytoma-paraganglioma, MONDO:0017366","Pheochromocytoma/paraganglioma syndrome 1, MIM#168000"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4365,"hash_id":null,"name":"Paraganglioma_phaeochromocytoma","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with paraganglioma and phaeochromocytoma. \r\n\r\nFurther information on the testing criteria for paraganglioma and phaeochromocytoma can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3601-paraganglioma-phaeochromocytoma-panel-testi\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with paraganglioma and phaeochromocytoma and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.2","version_created":"2026-01-12T09:39:17.151164+11:00","relevant_disorders":[],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ42177","FLJ25791","dJ70A9.1","MGC26954"],"biotype":"protein_coding","hgnc_id":"HGNC:33814","gene_name":"adenylate kinase 9","omim_gene":["615358"],"alias_name":null,"gene_symbol":"AK9","hgnc_symbol":"AK9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:109814059-110012420","ensembl_id":"ENSG00000155085"}},"GRch38":{"90":{"location":"6:109492856-109691217","ensembl_id":"ENSG00000155085"}}},"hgnc_date_symbol_changed":"2013-04-29"},"entity_type":"gene","entity_name":"AK9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37713809"],"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":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"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":["IKK-gamma","NEMO","Fip3p","FIP-3","FIP3","ZC2HC9"],"biotype":null,"hgnc_id":"HGNC:5961","gene_name":"inhibitor of nuclear factor kappa B kinase subunit gamma","omim_gene":["300248"],"alias_name":null,"gene_symbol":"IKBKG","hgnc_symbol":"IKBKG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153769414-153796782","ensembl_id":"ENSG00000073009"}},"GRch38":{"90":{"location":"X:154541199-154565046","ensembl_id":"ENSG00000269335"}}},"hgnc_date_symbol_changed":"1998-09-30"},"entity_type":"gene","entity_name":"IKBKG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31874111","35289316"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Incontinentia pigmenti MONDO:0010631"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":["technically challenging"],"panel":{"id":4457,"hash_id":null,"name":"Hereditary Pigmentary Disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum","status":"public","version":"1.5","version_created":"2026-01-02T16:51:24.217185+11:00","relevant_disorders":["Abnormality of skin pigmentation","HP:0001000"],"stats":{"number_of_genes":41,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DDBB","UV-DDB2","FLJ34321","XPE"],"biotype":"protein_coding","hgnc_id":"HGNC:2718","gene_name":"damage specific DNA binding protein 2","omim_gene":["600811"],"alias_name":["xeroderma pigmentosum group E protein","UV-damaged DNA-binding protein 2","DDB p48 subunit"],"gene_symbol":"DDB2","hgnc_symbol":"DDB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:47236493-47260767","ensembl_id":"ENSG00000134574"}},"GRch38":{"90":{"location":"11:47214465-47239240","ensembl_id":"ENSG00000134574"}}},"hgnc_date_symbol_changed":"1995-07-06"},"entity_type":"gene","entity_name":"DDB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33276309","32530099","32239545","32228487"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["xeroderma pigmentosum group E MONDO:0010213"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4457,"hash_id":null,"name":"Hereditary Pigmentary Disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum","status":"public","version":"1.5","version_created":"2026-01-02T16:51:24.217185+11:00","relevant_disorders":["Abnormality of skin pigmentation","HP:0001000"],"stats":{"number_of_genes":41,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MED","THBS5"],"biotype":"protein_coding","hgnc_id":"HGNC:2227","gene_name":"cartilage oligomeric matrix protein","omim_gene":["600310"],"alias_name":["thrombospondin-5"],"gene_symbol":"COMP","hgnc_symbol":"COMP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:18893583-18902123","ensembl_id":"ENSG00000105664"}},"GRch38":{"90":{"location":"19:18782773-18791314","ensembl_id":"ENSG00000105664"}}},"hgnc_date_symbol_changed":"1994-05-24"},"entity_type":"str","entity_name":"COMP_MEDPSACH_GAC","confidence_level":"3","penetrance":null,"publications":["9887340","17133256","21922596"],"evidence":["Literature","Expert Review Green","Expert Review Green","Literature"],"phenotypes":["Epiphyseal dysplasia, multiple, 1 MIM#132400","Pseudoachondroplasia MIM#177170"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"GAC","chromosome":"19","grch37_coordinates":[18896844,18896859],"grch38_coordinates":[18786034,18786049],"normal_repeats":5,"pathogenic_repeats":6,"tags":["paediatric-onset"],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]}},{"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":"str","entity_name":"ARX_EIEE1_GCN2","confidence_level":"3","penetrance":null,"publications":["11889467","33811808"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Developmental and epileptic encephalopathy 1 MIM#308350","Intellectual disability, X-linked 29 and others MIM#300419","Partington syndrome MIM#309510"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","repeated_sequence":"GCN","chromosome":"X","grch37_coordinates":[25031647,25031682],"grch38_coordinates":[25013530,25013565],"normal_repeats":12,"pathogenic_repeats":20,"tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"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":[]}}]}