{"count":36022,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=11","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=9","results":[{"gene_data":{"alias":["ARMS"],"biotype":"protein_coding","hgnc_id":"HGNC:29508","gene_name":"kinase D interacting substrate 220","omim_gene":["615759"],"alias_name":["ankyrin repeat-rich membrane-spanning protein"],"gene_symbol":"KIDINS220","hgnc_symbol":"KIDINS220","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:8865408-8977760","ensembl_id":"ENSG00000134313"}},"GRch38":{"90":{"location":"2:8721081-8837630","ensembl_id":"ENSG00000134313"}}},"hgnc_date_symbol_changed":"2008-11-25"},"entity_type":"gene","entity_name":"KIDINS220","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33205811","28934391","28934391","32909676"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ventriculomegaly and arthrogryposis, MIM# 619501","cerebral ventriculomegaly","limb contractures"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RAYL","BBS19"],"biotype":"protein_coding","hgnc_id":"HGNC:18626","gene_name":"intraflagellar transport 27","omim_gene":["615870"],"alias_name":null,"gene_symbol":"IFT27","hgnc_symbol":"IFT27","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:37154246-37172300","ensembl_id":"ENSG00000100360"}},"GRch38":{"90":{"location":"22:36758202-36776256","ensembl_id":"ENSG00000100360"}}},"hgnc_date_symbol_changed":"2010-04-22"},"entity_type":"gene","entity_name":"IFT27","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24488770","30761183","26763875","25443296"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Bardet-Biedl syndrome 19, MIM#615996"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":53,"hash_id":null,"name":"Bardet Biedl syndrome","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nBardet Biedl syndrome is a multisystem ciliopathy characterised by a combination of obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities.\r\n\r\nMany ciliopathies present with overlapping features, please refer to the Ciliopathy panel if broader spectrum of conditions are being considered.","status":"public","version":"1.14","version_created":"2025-05-21T20:50:29.131780+10:00","relevant_disorders":[],"stats":{"number_of_genes":27,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ13352","SRD5A2L","SRD5A2L1"],"biotype":"protein_coding","hgnc_id":"HGNC:25812","gene_name":"steroid 5 alpha-reductase 3","omim_gene":["611715"],"alias_name":null,"gene_symbol":"SRD5A3","hgnc_symbol":"SRD5A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:56212276-56239263","ensembl_id":"ENSG00000128039"}},"GRch38":{"90":{"location":"4:55346109-55373096","ensembl_id":"ENSG00000128039"}}},"hgnc_date_symbol_changed":"2007-11-12"},"entity_type":"gene","entity_name":"SRD5A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32424323"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type Iq, MIM# 612379","Kahrizi syndrome, MIM# 612713"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":68,"hash_id":null,"name":"Congenital Disorders of Glycosylation","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital Disorders of Glycosylation' panel v2.4 with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.85","version_created":"2026-04-02T10:46:27.496905+11:00","relevant_disorders":["Abnormal transferrin saturation","HP:0040135"],"stats":{"number_of_genes":141,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["U7.1"],"biotype":"snRNA","hgnc_id":"HGNC:34033","gene_name":"RNA, U7 small nuclear 1","omim_gene":null,"alias_name":["RNA, small nuclear U7.1"],"gene_symbol":"RNU7-1","hgnc_symbol":"RNU7-1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:7052979-7053041","ensembl_id":"ENSG00000238923"}},"GRch38":{"90":{"location":"12:6943816-6943878","ensembl_id":"ENSG00000238923"}}},"hgnc_date_symbol_changed":"2010-09-14"},"entity_type":"gene","entity_name":"RNU7-1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 39213953"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Aicardi-Goutières syndrome 9, MIM#619487"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["non-coding gene"],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ENaCbeta"],"biotype":"protein_coding","hgnc_id":"HGNC:10600","gene_name":"sodium channel epithelial 1 beta subunit","omim_gene":["600760"],"alias_name":["Liddle syndrome"],"gene_symbol":"SCNN1B","hgnc_symbol":"SCNN1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:23289552-23392620","ensembl_id":"ENSG00000168447"}},"GRch38":{"90":{"location":"16:23278231-23381299","ensembl_id":"ENSG00000168447"}}},"hgnc_date_symbol_changed":"1994-12-20"},"entity_type":"gene","entity_name":"SCNN1B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["22207244","16207733","18507830"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":82,"hash_id":null,"name":"Ciliary Dyskinesia","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.75","version_created":"2026-03-30T10:17:46.701193+11:00","relevant_disorders":["Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205"],"stats":{"number_of_genes":77,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["D2LIC","LIC3","CGI-60","DKFZP564A033"],"biotype":"protein_coding","hgnc_id":"HGNC:24595","gene_name":"dynein cytoplasmic 2 light intermediate chain 1","omim_gene":["617083"],"alias_name":null,"gene_symbol":"DYNC2LI1","hgnc_symbol":"DYNC2LI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:44001178-44037149","ensembl_id":"ENSG00000138036"}},"GRch38":{"90":{"location":"2:43774039-43810010","ensembl_id":"ENSG00000138036"}}},"hgnc_date_symbol_changed":"2005-11-29"},"entity_type":"gene","entity_name":"DYNC2LI1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33030252"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":84,"hash_id":null,"name":"Ciliopathies","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AAKG","AAKG2","H91620p","WPWS","CMH6"],"biotype":"protein_coding","hgnc_id":"HGNC:9386","gene_name":"protein kinase AMP-activated non-catalytic subunit gamma 2","omim_gene":["602743"],"alias_name":["AMPK gamma2"],"gene_symbol":"PRKAG2","hgnc_symbol":"PRKAG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:151253197-151574210","ensembl_id":"ENSG00000106617"}},"GRch38":{"90":{"location":"7:151556111-151877125","ensembl_id":"ENSG00000106617"}}},"hgnc_date_symbol_changed":"1997-05-09"},"entity_type":"gene","entity_name":"PRKAG2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15877279","17667862","32646569"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Glycogen storage disease of heart, lethal congenital, MIM# 261740"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["CGI-119","S1R","ZPRO","LFG4","GAAP"],"biotype":"protein_coding","hgnc_id":"HGNC:24257","gene_name":"transmembrane BAX inhibitor motif containing 4","omim_gene":["616874"],"alias_name":null,"gene_symbol":"TMBIM4","hgnc_symbol":"TMBIM4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:66517709-66563852","ensembl_id":"ENSG00000155957"}},"GRch38":{"90":{"location":"12:66135846-66170072","ensembl_id":"ENSG00000155957"}}},"hgnc_date_symbol_changed":"2005-08-22"},"entity_type":"gene","entity_name":"TMBIM4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40744297","21282601","28991257"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Visceral heterotaxy MONDO:0018677, TMBIM4-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":108,"hash_id":null,"name":"Heterotaxy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Laterality disorders and isomerism' panel V1.19, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.45","version_created":"2026-03-17T16:09:39.911604+11:00","relevant_disorders":["Heterotaxy","HP:0030853; Dextrocardia","HP:0001651; Asplenia","HP:0001746; Abnormal spatial orientation of cardiac segments","HP:0011534; Polysplenia","HP:0001748;Midline liver","HP:0034188"],"stats":{"number_of_genes":67,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CS-1"],"biotype":"protein_coding","hgnc_id":"HGNC:1330","gene_name":"myozenin 2","omim_gene":["605602"],"alias_name":null,"gene_symbol":"MYOZ2","hgnc_symbol":"MYOZ2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:120056939-120108944","ensembl_id":"ENSG00000172399"}},"GRch38":{"90":{"location":"4:119135784-119187789","ensembl_id":"ENSG00000172399"}}},"hgnc_date_symbol_changed":"2002-01-11"},"entity_type":"gene","entity_name":"MYOZ2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["17347475","18591919","28296734","30681346","22987565"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Hypertrophic cardiomyopathy, MONDO:0005045"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"panel":{"id":111,"hash_id":null,"name":"Hypertrophic cardiomyopathy","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes associated with hypertrophic cardiomyopathy or isolated left ventricular hypertrophy (including sarcomere, sarcomere-associated and syndromic conditions), typically with onset in adolescence or adulthood. For early-onset hypertrophic cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel was developed by VCGS and is maintained by VCGS and RMH. It has been compared against the Genomics England 'Hypertrophic Cardiomyopathy  - teen and adult' panel and incorporates gene-disease validity assessments by the ClinGen HCM working group (PMID: 30681346), 5/8/2020 and Hereditary Cardiovascular Disorders Gene Curation Expert Panel (PMID: 39132495).","status":"public","version":"1.25","version_created":"2026-03-11T18:45:28.302854+11:00","relevant_disorders":["Hypertrophic cardiomyopathy","HP:0001639"],"stats":{"number_of_genes":64,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28476236"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bloom syndrome, MIM# 210900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"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":["URP2","KIND3","MIG2B","MGC10966","MIG-2","UNC112C"],"biotype":"protein_coding","hgnc_id":"HGNC:23151","gene_name":"fermitin family member 3","omim_gene":["607901"],"alias_name":["kindlin-3"],"gene_symbol":"FERMT3","hgnc_symbol":"FERMT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:63974150-63991354","ensembl_id":"ENSG00000149781"}},"GRch38":{"90":{"location":"11:64206678-64223886","ensembl_id":"ENSG00000149781"}}},"hgnc_date_symbol_changed":"2007-12-14"},"entity_type":"gene","entity_name":"FERMT3","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":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":["FLJ12541"],"biotype":"protein_coding","hgnc_id":"HGNC:30650","gene_name":"stimulated by retinoic acid 6","omim_gene":["610745"],"alias_name":["retinol binding protein 4 receptor"],"gene_symbol":"STRA6","hgnc_symbol":"STRA6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:74471807-74504608","ensembl_id":"ENSG00000137868"}},"GRch38":{"90":{"location":"15:74179466-74212267","ensembl_id":"ENSG00000137868"}}},"hgnc_date_symbol_changed":"2004-12-20"},"entity_type":"gene","entity_name":"STRA6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17273977","17503335","19213032","26373900","30880327","26373900","25457163"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Microphthalmia, isolated, with coloboma 8, MIM# 601186","Microphthalmia, syndromic 9, MIM# 601186"],"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":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["YAP65"],"biotype":"protein_coding","hgnc_id":"HGNC:16262","gene_name":"Yes associated protein 1","omim_gene":["606608"],"alias_name":null,"gene_symbol":"YAP1","hgnc_symbol":"YAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:101981192-102104154","ensembl_id":"ENSG00000137693"}},"GRch38":{"90":{"location":"11:102110461-102233423","ensembl_id":"ENSG00000137693"}}},"hgnc_date_symbol_changed":"2001-07-17"},"entity_type":"gene","entity_name":"YAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24462371","27267789","28801591"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":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":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["4-1BB-L"],"biotype":"protein_coding","hgnc_id":"HGNC:11939","gene_name":"TNF superfamily member 9","omim_gene":["606182"],"alias_name":["receptor 4-1BB ligand","homolog of mouse 4-1BB-L"],"gene_symbol":"TNFSF9","hgnc_symbol":"TNFSF9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:6531010-6535931","ensembl_id":"ENSG00000125657"}},"GRch38":{"90":{"location":"19:6530999-6535928","ensembl_id":"ENSG00000125657"}}},"hgnc_date_symbol_changed":"1998-12-04"},"entity_type":"gene","entity_name":"TNFSF9","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["35657354"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Hereditary susceptibility to infections, MONDO:0015979, TNFSF9-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["slit2","MEGF5","SLIT1","Slit-3"],"biotype":"protein_coding","hgnc_id":"HGNC:11087","gene_name":"slit guidance ligand 3","omim_gene":["603745"],"alias_name":null,"gene_symbol":"SLIT3","hgnc_symbol":"SLIT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:168088745-168728133","ensembl_id":"ENSG00000184347"}},"GRch38":{"90":{"location":"5:168661733-169301129","ensembl_id":"ENSG00000184347"}}},"hgnc_date_symbol_changed":"1998-03-25"},"entity_type":"gene","entity_name":"SLIT3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33933663"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Congenital diaphragmatic hernia MONDO:0005711, SLIT3-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["AC1"],"biotype":"protein_coding","hgnc_id":"HGNC:232","gene_name":"adenylate cyclase 1","omim_gene":["103072"],"alias_name":null,"gene_symbol":"ADCY1","hgnc_symbol":"ADCY1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:45613739-45762715","ensembl_id":"ENSG00000164742"}},"GRch38":{"90":{"location":"7:45574140-45723116","ensembl_id":"ENSG00000164742"}}},"hgnc_date_symbol_changed":"1992-12-02"},"entity_type":"gene","entity_name":"ADCY1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24482543"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal recessive 44, MIM# 610154"],"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":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LIN2","CAGH39","FGS4"],"biotype":"protein_coding","hgnc_id":"HGNC:1497","gene_name":"calcium/calmodulin dependent serine protein kinase","omim_gene":["300172"],"alias_name":null,"gene_symbol":"CASK","hgnc_symbol":"CASK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:41374187-41782716","ensembl_id":"ENSG00000147044"}},"GRch38":{"90":{"location":"X:41514934-41923463","ensembl_id":"ENSG00000147044"}}},"hgnc_date_symbol_changed":"1998-09-25"},"entity_type":"gene","entity_name":"CASK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24278995"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["FG syndrome 4 MIM#300422","Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749","Mental retardation, with or without nystagmus MIM#300422"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":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":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CATSPER"],"biotype":"protein_coding","hgnc_id":"HGNC:17116","gene_name":"cation channel sperm associated 1","omim_gene":["606389"],"alias_name":null,"gene_symbol":"CATSPER1","hgnc_symbol":"CATSPER1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65784223-65793988","ensembl_id":"ENSG00000175294"}},"GRch38":{"90":{"location":"11:66016752-66026517","ensembl_id":"ENSG00000175294"}}},"hgnc_date_symbol_changed":"2002-06-20"},"entity_type":"gene","entity_name":"CATSPER1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19344877","25457194","19210926"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Spermatogenic failure 7 MIM#612997"],"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":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1678","gene_name":"CD4 molecule","omim_gene":["186940"],"alias_name":null,"gene_symbol":"CD4","hgnc_symbol":"CD4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:6896024-6929974","ensembl_id":"ENSG00000010610"}},"GRch38":{"90":{"location":"12:6786858-6820808","ensembl_id":"ENSG00000010610"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CD4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31781092","33471124"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency 79, MIM# 619238","Absence of CD4+ T cells","exuberant, relapsing, treatment-refractory warts"],"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":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FAC","FA3"],"biotype":"protein_coding","hgnc_id":"HGNC:3584","gene_name":"Fanconi anemia complementation group C","omim_gene":["613899"],"alias_name":null,"gene_symbol":"FANCC","hgnc_symbol":"FANCC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:97861336-98079991","ensembl_id":"ENSG00000158169"}},"GRch38":{"90":{"location":"9:95099054-95426796","ensembl_id":"ENSG00000158169"}}},"hgnc_date_symbol_changed":"1992-11-25"},"entity_type":"gene","entity_name":"FANCC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31044565","30792206","28717661"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anemia, complementation group C, MIM# 227645","MONDO:0009213"],"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":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MANA-ER","MRT15","ERManI"],"biotype":"protein_coding","hgnc_id":"HGNC:6823","gene_name":"mannosidase alpha class 1B member 1","omim_gene":["604346"],"alias_name":["endoplasmic reticulum alpha-mannosidase 1","alpha 1,2-mannosidase","endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1","ER alpha 1,2-mannosidase","Man9GlcNAc2-specific processing alpha-mannosidase","endoplasmic Reticulum Class I alpha-mannosidase"],"gene_symbol":"MAN1B1","hgnc_symbol":"MAN1B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139981379-140003635","ensembl_id":"ENSG00000177239"}},"GRch38":{"90":{"location":"9:137086927-137109187","ensembl_id":"ENSG00000177239"}}},"hgnc_date_symbol_changed":"1999-09-28"},"entity_type":"gene","entity_name":"MAN1B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24348268"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mental retardation, autosomal recessive 15, MIM#614202"],"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":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BLS","RFX-B","ANKRA1","F14150_1","MGC138628"],"biotype":"protein_coding","hgnc_id":"HGNC:9987","gene_name":"regulatory factor X associated ankyrin containing protein","omim_gene":["603200"],"alias_name":["ankyrin repeat-containing regulatory factor X-associated protein","regulatory factor X subunit B","RFX-Bdelta4","DNA-binding protein RFXANK"],"gene_symbol":"RFXANK","hgnc_symbol":"RFXANK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:19303008-19312678","ensembl_id":"ENSG00000064490"}},"GRch38":{"90":{"location":"19:19192229-19201869","ensembl_id":"ENSG00000064490"}}},"hgnc_date_symbol_changed":"1998-11-19"},"entity_type":"gene","entity_name":"RFXANK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12618906"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["MHC class II deficiency, complementation group B MIM# 209920","Bare Lymphocyte Syndrome, type II, complementation group B","Low CD4+ T cells","reduced MHC II expression on lymphocytes","Normal-low Ig levels","Failure to thrive","respiratory/gastrointestinal infections","liver/biliary tract disease","diarrhoea","Severe autoimmune cytopaenia","agammaglobulinaemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"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":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:843","gene_name":"ATP synthase, H+ transporting, mitochondrial Fo complex subunit C3 (subunit 9)","omim_gene":["602736"],"alias_name":["ATP synthase subunit 9"],"gene_symbol":"ATP5G3","hgnc_symbol":"ATP5G3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:176040986-176049335","ensembl_id":"ENSG00000154518"}},"GRch38":{"90":{"location":"2:175176258-175184607","ensembl_id":"ENSG00000154518"}}},"hgnc_date_symbol_changed":"1994-08-10"},"entity_type":"gene","entity_name":"ATP5G3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34636445","34954817"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Dystonia, early-onset, and/or spastic paraplegia, MIM#619681"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["new gene name"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:17768","gene_name":"tyrosyl-DNA phosphodiesterase 2","omim_gene":["605764"],"alias_name":null,"gene_symbol":"TDP2","hgnc_symbol":"TDP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:24650205-24667261","ensembl_id":"ENSG00000111802"}},"GRch38":{"90":{"location":"6:24649977-24667033","ensembl_id":"ENSG00000111802"}}},"hgnc_date_symbol_changed":"2010-05-07"},"entity_type":"gene","entity_name":"TDP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31410782","30109272","24658003"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 23","OMIM #616949"],"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":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["hNRD1","hNRD2"],"biotype":"protein_coding","hgnc_id":"HGNC:7995","gene_name":"nardilysin convertase","omim_gene":["602651"],"alias_name":["N-arginine dibasic convertase"],"gene_symbol":"NRDC","hgnc_symbol":"NRDC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:52254863-52344477","ensembl_id":"ENSG00000078618"}},"GRch38":{"90":{"location":"1:51789191-51878937","ensembl_id":"ENSG00000078618"}}},"hgnc_date_symbol_changed":"2015-11-11"},"entity_type":"gene","entity_name":"NRDC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["41449824","28017472","34582790","19935654"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, NRDC-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KPL2","FLJ23577","CT122"],"biotype":"protein_coding","hgnc_id":"HGNC:26293","gene_name":"sperm flagellar 2","omim_gene":["610172"],"alias_name":["cancer/testis antigen 122"],"gene_symbol":"SPEF2","hgnc_symbol":"SPEF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:35617946-35814713","ensembl_id":"ENSG00000152582"}},"GRch38":{"90":{"location":"5:35617844-35814611","ensembl_id":"ENSG00000152582"}}},"hgnc_date_symbol_changed":"2007-08-20"},"entity_type":"gene","entity_name":"SPEF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31151990","31278745","31048344","31942643"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spermatogenic failure 43, MIM#618751","Spermatogenic failure 43, MIM#618751","Primary ciliary dyskinesia-like phenotype"],"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":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp434H247","MED2"],"biotype":"protein_coding","hgnc_id":"HGNC:23074","gene_name":"mediator complex subunit 29","omim_gene":["612914"],"alias_name":null,"gene_symbol":"MED29","hgnc_symbol":"MED29","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:39881943-39891277","ensembl_id":"ENSG00000063322"}},"GRch38":{"90":{"location":"19:39391303-39400637","ensembl_id":"ENSG00000063322"}}},"hgnc_date_symbol_changed":"2007-07-30"},"entity_type":"gene","entity_name":"MED29","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 40745490"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Pontocerebellar hypoplasia, MONDO:0020135, MED29-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hbet1"],"biotype":"protein_coding","hgnc_id":"HGNC:14562","gene_name":"Bet1 golgi vesicular membrane trafficking protein","omim_gene":["605456"],"alias_name":["Golgi vesicular membrane trafficking protein p18","Bet1p homolog"],"gene_symbol":"BET1","hgnc_symbol":"BET1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:93592074-93633694","ensembl_id":"ENSG00000105829"}},"GRch38":{"90":{"location":"7:93962762-94004382","ensembl_id":"ENSG00000105829"}}},"hgnc_date_symbol_changed":"2001-04-05"},"entity_type":"gene","entity_name":"BET1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["34779586"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Muscular dystrophy, congenital, with rapid progression, MIM# 254100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ETL1","DKFZP762K2015","KIAA1122","DKFZp762K2015"],"biotype":"protein_coding","hgnc_id":"HGNC:18398","gene_name":"SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1","omim_gene":["612761"],"alias_name":null,"gene_symbol":"SMARCAD1","hgnc_symbol":"SMARCAD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:95128762-95212443","ensembl_id":"ENSG00000163104"}},"GRch38":{"90":{"location":"4:94207611-94291292","ensembl_id":"ENSG00000163104"}}},"hgnc_date_symbol_changed":"2003-05-29"},"entity_type":"gene","entity_name":"SMARCAD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26932190","24664640"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Basan syndrome, MIM#129200","Huriez syndrome, OMIM #181600"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":153,"hash_id":null,"name":"Palmoplantar Keratoderma and Erythrokeratoderma","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.","status":"public","version":"0.144","version_created":"2026-03-08T22:20:02.332483+11:00","relevant_disorders":["Palmoplantar keratoderma","HP:0000982; Erythrokeratoderma","MONDO:0019270"],"stats":{"number_of_genes":73,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GUCY2A","ANPa"],"biotype":"protein_coding","hgnc_id":"HGNC:7943","gene_name":"natriuretic peptide receptor 1","omim_gene":["108960"],"alias_name":["guanylate cyclase A"],"gene_symbol":"NPR1","hgnc_symbol":"NPR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:153651113-153666468","ensembl_id":"ENSG00000169418"}},"GRch38":{"90":{"location":"1:153678637-153693992","ensembl_id":"ENSG00000169418"}}},"hgnc_date_symbol_changed":"1990-03-27"},"entity_type":"gene","entity_name":"NPR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37080586"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Genetic hypertension MONDO:0015512"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":190,"hash_id":null,"name":"Hypertension and Aldosterone disorders","disease_group":"Renal and urinary tract disorders; Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with hypertension and aldosterone disorders. \r\n\r\nThis panel was created and is maintained by the KidGen Collaborative. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Extreme early-onset hypertension' panel V1.23, with all discrepancies reviewed and resolved (January 2026).","status":"public","version":"1.18","version_created":"2026-01-08T17:00:09.030229+11:00","relevant_disorders":["Hypertension","HP:0000822; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":24,"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":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC33196","KIAA1336","IFT121","IFTA1"],"biotype":"protein_coding","hgnc_id":"HGNC:29250","gene_name":"WD repeat domain 35","omim_gene":["613602"],"alias_name":null,"gene_symbol":"WDR35","hgnc_symbol":"WDR35","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:20110021-20189892","ensembl_id":"ENSG00000118965"}},"GRch38":{"90":{"location":"2:19910260-19990131","ensembl_id":"ENSG00000118965"}}},"hgnc_date_symbol_changed":"2004-03-02"},"entity_type":"gene","entity_name":"WDR35","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21473986"],"evidence":["Expert Review Green","KidGen_CilioNephronop v38.1.0","Victorian Clinical Genetics Services"],"phenotypes":["Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091","MONDO:0013569","Cranioectodermal dysplasia 2, MIM# 613610"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":193,"hash_id":null,"name":"Renal Ciliopathies and Nephronophthisis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen","status":"public","version":"1.53","version_created":"2026-03-19T17:14:29.802874+11:00","relevant_disorders":["Abnormality of renal medullary morphology","HP:0025361; Renal cyst","HP:0000107"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BB1","hMBOA-7","LPIAT"],"biotype":"protein_coding","hgnc_id":"HGNC:15505","gene_name":"membrane bound O-acyltransferase domain containing 7","omim_gene":["606048"],"alias_name":["lysophosphatidylinositol acyltransferase"],"gene_symbol":"MBOAT7","hgnc_symbol":"MBOAT7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:54677107-54693733","ensembl_id":"ENSG00000125505"}},"GRch38":{"90":{"location":"19:54173412-54189882","ensembl_id":"ENSG00000125505"}}},"hgnc_date_symbol_changed":"2008-01-17"},"entity_type":"gene","entity_name":"MBOAT7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33335874","32645526","32744787","31852446","31282596","30701556"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["intellectual disability MIM#617188"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSPC196","JBTS16"],"biotype":"protein_coding","hgnc_id":"HGNC:26944","gene_name":"transmembrane protein 138","omim_gene":["614459"],"alias_name":null,"gene_symbol":"TMEM138","hgnc_symbol":"TMEM138","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:61129473-61136981","ensembl_id":"ENSG00000149483"}},"GRch38":{"90":{"location":"11:61362001-61369509","ensembl_id":"ENSG00000149483"}}},"hgnc_date_symbol_changed":"2006-03-15"},"entity_type":"gene","entity_name":"TMEM138","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 16, MIM# 614465","MONDO:0013764"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":"0.610","version_created":"2026-03-31T18:57:58.699788+11:00","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":["LMX1.1"],"biotype":"protein_coding","hgnc_id":"HGNC:6653","gene_name":"LIM homeobox transcription factor 1 alpha","omim_gene":["600298"],"alias_name":null,"gene_symbol":"LMX1A","hgnc_symbol":"LMX1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:165171104-165325952","ensembl_id":"ENSG00000162761"}},"GRch38":{"90":{"location":"1:165201867-165356715","ensembl_id":"ENSG00000162761"}}},"hgnc_date_symbol_changed":"1994-09-07"},"entity_type":"gene","entity_name":"LMX1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29754270","29971487","32840933"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal dominant 7 MIM#601412","Deafness, autosomal recessive"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":["GIP"],"biotype":"protein_coding","hgnc_id":"HGNC:4385","gene_name":"G protein subunit alpha i2","omim_gene":["139360"],"alias_name":["GTP-binding regulatory protein Gi alpha-2 chain"],"gene_symbol":"GNAI2","hgnc_symbol":"GNAI2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:50263724-50296787","ensembl_id":"ENSG00000114353"}},"GRch38":{"90":{"location":"3:50226292-50259355","ensembl_id":"ENSG00000114353"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GNAI2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31036916","40926810","39298586"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Syndromic disease MONDO:0002254, GNAI2-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.145","version_created":"2026-03-02T21:55:19.238904+11:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["UGRP"],"biotype":"protein_coding","hgnc_id":"HGNC:24861","gene_name":"glucose-6-phosphatase catalytic subunit 3","omim_gene":["611045"],"alias_name":null,"gene_symbol":"G6PC3","hgnc_symbol":"G6PC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42148103-42153709","ensembl_id":"ENSG00000141349"}},"GRch38":{"90":{"location":"17:44070735-44076344","ensembl_id":"ENSG00000141349"}}},"hgnc_date_symbol_changed":"2004-03-29"},"entity_type":"gene","entity_name":"G6PC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19118303","20799326","25492228","17318259","20616219"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541","MONDO:0012930","Dursun syndrome, MIM# 612541"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":233,"hash_id":null,"name":"Phagocyte Defects","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with abnormalities in phagocyte number, function or both. Susceptibility to infection from phagocytic dysfunction ranges from mild, recurrent skin infections to overwhelming, fatal systemic infection. Affected individuals are more susceptible to bacterial and fungal infections but have a normal resistance to viral infections. Most are diagnosed in infancy due to the severity of the infection or the unusual presentation of the organism, but some are diagnosed in adulthood. Includes:\r\n- Congenital Neutropenias\r\n- Defects of Motility\r\n- Defects of Respiratory Burst\r\n- Other Non-Lymphoid Defects\r\n\r\nUpdated with the 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications. \r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).\r\n\r\nThis panel was merged with and replaces the Melbourne Genomics Immunology Flagship Neutrophil Defects gene panel (22/03/2021).","status":"public","version":"1.45","version_created":"2025-12-15T10:26:57.519304+11:00","relevant_disorders":["Unusual infection","HP:0032101"],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Cernunnos","XLF","FLJ12610"],"biotype":"protein_coding","hgnc_id":"HGNC:25737","gene_name":"non-homologous end joining factor 1","omim_gene":["611290"],"alias_name":["XRCC4-like factor"],"gene_symbol":"NHEJ1","hgnc_symbol":"NHEJ1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:219940039-220025587","ensembl_id":"ENSG00000187736"}},"GRch38":{"90":{"location":"2:219075317-219160865","ensembl_id":"ENSG00000187736"}}},"hgnc_date_symbol_changed":"2006-03-30"},"entity_type":"gene","entity_name":"NHEJ1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16439204","16439205"],"evidence":["Victorian Clinical Genetics Services","Melbourne Genomics Health Alliance Immunology Flagship","Expert Review Green","Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291","MONDO:0012650"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":235,"hash_id":null,"name":"Severe Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with severe combined immunodeficiency (SCID), including the following:\r\n- SCID with absent T present B cells\r\n- SCID with absent T absent B cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.30","version_created":"2026-03-02T10:27:29.970169+11:00","relevant_disorders":["Severe combined immunodeficiency","HP:0004430"],"stats":{"number_of_genes":28,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KRAS1"],"biotype":"protein_coding","hgnc_id":"HGNC:6407","gene_name":"KRAS proto-oncogene, GTPase","omim_gene":["190070"],"alias_name":null,"gene_symbol":"KRAS","hgnc_symbol":"KRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:25357723-25403870","ensembl_id":"ENSG00000133703"}},"GRch38":{"90":{"location":"12:25204789-25250936","ensembl_id":"ENSG00000133703"}}},"hgnc_date_symbol_changed":"2005-01-24"},"entity_type":"gene","entity_name":"KRAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - 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Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TGASE","TGK","LI","LI1"],"biotype":"protein_coding","hgnc_id":"HGNC:11777","gene_name":"transglutaminase 1","omim_gene":["190195"],"alias_name":["K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"],"gene_symbol":"TGM1","hgnc_symbol":"TGM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:24718320-24733638","ensembl_id":"ENSG00000092295"}},"GRch38":{"90":{"location":"14:24249114-24264432","ensembl_id":"ENSG00000092295"}}},"hgnc_date_symbol_changed":"1990-05-25"},"entity_type":"gene","entity_name":"TGM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ichthyosis, congenital, autosomal recessive 1, 242300 (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. 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Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["M-SemaK","KIAA0331","coll-5"],"biotype":"protein_coding","hgnc_id":"HGNC:10727","gene_name":"semaphorin 3E","omim_gene":["608166"],"alias_name":["M-sema H"],"gene_symbol":"SEMA3E","hgnc_symbol":"SEMA3E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:82993222-83278326","ensembl_id":"ENSG00000170381"}},"GRch38":{"90":{"location":"7:83363906-83649010","ensembl_id":"ENSG00000170381"}}},"hgnc_date_symbol_changed":"1999-06-25"},"entity_type":"gene","entity_name":"SEMA3E","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["25985275"],"evidence":["Expert Review Red","Expert Review","Expert Review","Expert Review"],"phenotypes":["?CHARGE syndrome (MIM#214800)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3236,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"Endocrine 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GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LCA","T200","GP180"],"biotype":"protein_coding","hgnc_id":"HGNC:9666","gene_name":"protein tyrosine phosphatase, receptor type C","omim_gene":["151460"],"alias_name":null,"gene_symbol":"PTPRC","hgnc_symbol":"PTPRC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:198607801-198726545","ensembl_id":"ENSG00000081237"}},"GRch38":{"90":{"location":"1:198638671-198757283","ensembl_id":"ENSG00000081237"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PTPRC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional 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These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1385","gene_name":"calcium binding protein 2","omim_gene":["607314"],"alias_name":null,"gene_symbol":"CABP2","hgnc_symbol":"CABP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:67286383-67290899","ensembl_id":"ENSG00000167791"}},"GRch38":{"90":{"location":"11:67518912-67524517","ensembl_id":"ENSG00000167791"}}},"hgnc_date_symbol_changed":"2000-07-28"},"entity_type":"gene","entity_name":"CABP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Deafness, autosomal recessive 93, MIM# 614899"],"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":["FAG"],"biotype":"protein_coding","hgnc_id":"HGNC:3588","gene_name":"Fanconi anemia complementation group G","omim_gene":["602956"],"alias_name":["DNA repair protein XRCC9","X-ray repair, complementing defective, in Chinese hamster, 9","X-ray repair complementing defective repair in Chinese hamster cells 9"],"gene_symbol":"FANCG","hgnc_symbol":"FANCG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:35073832-35080013","ensembl_id":"ENSG00000221829"}},"GRch38":{"90":{"location":"9:35073835-35080016","ensembl_id":"ENSG00000221829"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Fanconi anaemia"],"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":["hWNT5A"],"biotype":"protein_coding","hgnc_id":"HGNC:12784","gene_name":"Wnt family member 5A","omim_gene":["164975"],"alias_name":["WNT-5A protein"],"gene_symbol":"WNT5A","hgnc_symbol":"WNT5A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:55499743-55523973","ensembl_id":"ENSG00000114251"}},"GRch38":{"90":{"location":"3:55465715-55490539","ensembl_id":"ENSG00000114251"}}},"hgnc_date_symbol_changed":"1993-07-06"},"entity_type":"gene","entity_name":"WNT5A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["DRS1","ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0461","ZNF635m","ZNF280E"],"biotype":"protein_coding","hgnc_id":"HGNC:18801","gene_name":"pogo transposable element derived with ZNF domain","omim_gene":["614787"],"alias_name":["zinc finger protein 280E","putative protein product of Nbla00003"],"gene_symbol":"POGZ","hgnc_symbol":"POGZ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:151375200-151431941","ensembl_id":"ENSG00000143442"}},"GRch38":{"90":{"location":"1:151402724-151459465","ensembl_id":"ENSG00000143442"}}},"hgnc_date_symbol_changed":"2002-08-29"},"entity_type":"gene","entity_name":"POGZ","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["26942287","26739615"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["White-Sutton syndrome, MIM# 616364"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["NHE6","KIAA0267"],"biotype":"protein_coding","hgnc_id":"HGNC:11079","gene_name":"solute carrier family 9 member A6","omim_gene":["300231"],"alias_name":null,"gene_symbol":"SLC9A6","hgnc_symbol":"SLC9A6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:135067598-135129423","ensembl_id":"ENSG00000198689"}},"GRch38":{"90":{"location":"X:135973841-136047269","ensembl_id":"ENSG00000198689"}}},"hgnc_date_symbol_changed":"1999-07-30"},"entity_type":"gene","entity_name":"SLC9A6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mental retardation, X-linked syndromic, Christianson type, MIM#\t300243"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":3379,"hash_id":null,"name":"Congenital ophthalmoplegia","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with congenital ophthalmoplegia including those associated with congenital fibrosis of the extra-ocular muscles (CFEOM), Duane anomaly, Moebius syndrome, and gaze palsies.\r\n\r\nIn addition, it includes genes associated with conditions where ophthalmoplegia can occur in infancy/early childhood as a common/prominent feature of a more complex syndromic, metabolic or neuromuscular condition.","status":"public","version":"1.14","version_created":"2025-12-14T20:52:23.588623+11:00","relevant_disorders":["Abnormality of eye movement","HP:0000496"],"stats":{"number_of_genes":55,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ20052"],"biotype":"protein_coding","hgnc_id":"HGNC:19349","gene_name":"kinesin family member 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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":["18622393"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Diabetes mellitus, transient neonatal 1, MIM# 601410"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ40908"],"biotype":"protein_coding","hgnc_id":"HGNC:20842","gene_name":"forkhead box P4","omim_gene":["608924"],"alias_name":null,"gene_symbol":"FOXP4","hgnc_symbol":"FOXP4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:41514164-41570122","ensembl_id":"ENSG00000137166"}},"GRch38":{"90":{"location":"6:41546426-41602384","ensembl_id":"ENSG00000137166"}}},"hgnc_date_symbol_changed":"2003-05-28"},"entity_type":"gene","entity_name":"FOXP4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33110267"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Neurodevelopmental disorder","multiple congenital abnormalities","short stature"],"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":["LIN2","CAGH39","FGS4"],"biotype":"protein_coding","hgnc_id":"HGNC:1497","gene_name":"calcium/calmodulin dependent serine protein kinase","omim_gene":["300172"],"alias_name":null,"gene_symbol":"CASK","hgnc_symbol":"CASK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:41374187-41782716","ensembl_id":"ENSG00000147044"}},"GRch38":{"90":{"location":"X:41514934-41923463","ensembl_id":"ENSG00000147044"}}},"hgnc_date_symbol_changed":"1998-09-25"},"entity_type":"gene","entity_name":"CASK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19377476"],"evidence":["Expert Review Green","Expert Review Green","Genomics England PanelApp","NHS Genomic Medicine Service"],"phenotypes":["Mental retardation, with or without nystagmus, MIM# 300422"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3762,"hash_id":null,"name":"Congenital nystagmus","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with isolated or syndromic nystagmus presenting in infancy or early childhood.","status":"public","version":"1.24","version_created":"2026-01-26T13:26:36.043723+11:00","relevant_disorders":["Nystagmus HP:0000639"],"stats":{"number_of_genes":84,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2153","gene_name":"cyclic nucleotide gated channel beta 3","omim_gene":["605080"],"alias_name":null,"gene_symbol":"CNGB3","hgnc_symbol":"CNGB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:87566205-87755903","ensembl_id":"ENSG00000170289"}},"GRch38":{"90":{"location":"8:86553977-86743675","ensembl_id":"ENSG00000170289"}}},"hgnc_date_symbol_changed":"2000-07-12"},"entity_type":"gene","entity_name":"CNGB3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17265047"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Achromatopsia 3 MIM#262300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3762,"hash_id":null,"name":"Congenital nystagmus","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with isolated or syndromic nystagmus presenting in infancy or early childhood.","status":"public","version":"1.24","version_created":"2026-01-26T13:26:36.043723+11:00","relevant_disorders":["Nystagmus HP:0000639"],"stats":{"number_of_genes":84,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["B17","C2TA","DKFZP434M035"],"biotype":"protein_coding","hgnc_id":"HGNC:2993","gene_name":"downstream neighbor of SON","omim_gene":["611428"],"alias_name":null,"gene_symbol":"DONSON","hgnc_symbol":"DONSON","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:34931848-34961014","ensembl_id":"ENSG00000159147"}},"GRch38":{"90":{"location":"21:33559542-33588708","ensembl_id":"ENSG00000159147"}}},"hgnc_date_symbol_changed":"2000-02-18"},"entity_type":"gene","entity_name":"DONSON","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28191891","28630177","28191891"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert Review"],"phenotypes":["Microcephaly, short stature, and limb abnormalities, MIM# 617604","Microcephaly-micromelia syndrome, MIM# 251230","MONDO:0009619"],"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":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":5},"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":["FLJ21924"],"biotype":"protein_coding","hgnc_id":"HGNC:26154","gene_name":"glutamine and serine rich 1","omim_gene":null,"alias_name":null,"gene_symbol":"QSER1","hgnc_symbol":"QSER1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:32914724-33014862","ensembl_id":"ENSG00000060749"}},"GRch38":{"90":{"location":"11:32893178-32993316","ensembl_id":"ENSG00000060749"}}},"hgnc_date_symbol_changed":"2006-02-06"},"entity_type":"gene","entity_name":"QSER1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 41139957"],"evidence":["Expert Review Red","Literature","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, QSER1-related"],"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. 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Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","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: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":["25987178","23348427","33195324"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Metachromatic leukodystrophy, 250100 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. 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It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"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":["ET3"],"biotype":"protein_coding","hgnc_id":"HGNC:3178","gene_name":"endothelin 3","omim_gene":["131242"],"alias_name":null,"gene_symbol":"EDN3","hgnc_symbol":"EDN3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:57875482-57901047","ensembl_id":"ENSG00000124205"}},"GRch38":{"90":{"location":"20:59300427-59325992","ensembl_id":"ENSG00000124205"}}},"hgnc_date_symbol_changed":"1989-09-06"},"entity_type":"gene","entity_name":"EDN3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene"],"phenotypes":["Waardenburg syndrome, type 4B, MIM# 613265"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deafness"],"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":["CPRP1","KIAA0214","MARF","CMT2A2"],"biotype":"protein_coding","hgnc_id":"HGNC:16877","gene_name":"mitofusin 2","omim_gene":["608507"],"alias_name":null,"gene_symbol":"MFN2","hgnc_symbol":"MFN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:12040238-12073571","ensembl_id":"ENSG00000116688"}},"GRch38":{"90":{"location":"1:11980181-12013514","ensembl_id":"ENSG00000116688"}}},"hgnc_date_symbol_changed":"2003-02-25"},"entity_type":"gene","entity_name":"MFN2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260","Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087","Hereditary motor and sensory neuropathy VIA, OMIM #601152"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HNPCC","FCC2","HNPCC2"],"biotype":"protein_coding","hgnc_id":"HGNC:7127","gene_name":"mutL homolog 1","omim_gene":["120436"],"alias_name":null,"gene_symbol":"MLH1","hgnc_symbol":"MLH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:37034823-37107380","ensembl_id":"ENSG00000076242"}},"GRch38":{"90":{"location":"3:36993332-37050918","ensembl_id":"ENSG00000076242"}}},"hgnc_date_symbol_changed":"1993-11-24"},"entity_type":"gene","entity_name":"MLH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene"],"phenotypes":["Mismatch repair cancer syndrome 1, MIM# 276300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["cancer","treatable"],"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":["SDR11E2"],"biotype":"protein_coding","hgnc_id":"HGNC:5218","gene_name":"hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2","omim_gene":["613890"],"alias_name":["short chain dehydrogenase/reductase family 11E, member 2"],"gene_symbol":"HSD3B2","hgnc_symbol":"HSD3B2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:119957554-119965658","ensembl_id":"ENSG00000203859"}},"GRch38":{"90":{"location":"1:119414931-119423035","ensembl_id":"ENSG00000203859"}}},"hgnc_date_symbol_changed":"1992-09-10"},"entity_type":"gene","entity_name":"HSD3B2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["1363812, 18252794"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810"],"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":["VATB","RTA1B","Vma2"],"biotype":"protein_coding","hgnc_id":"HGNC:853","gene_name":"ATPase H+ transporting V1 subunit B1","omim_gene":["192132"],"alias_name":["Renal tubular acidosis with deafness"],"gene_symbol":"ATP6V1B1","hgnc_symbol":"ATP6V1B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:71163012-71192536","ensembl_id":"ENSG00000116039"}},"GRch38":{"90":{"location":"2:70935882-70965406","ensembl_id":"ENSG00000116039"}}},"hgnc_date_symbol_changed":"2002-05-10"},"entity_type":"gene","entity_name":"ATP6V1B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12414817","9916796","18798332","16611712","39837581"],"evidence":["Expert Review Green","KidGen_Tubulopathies v38.1.0","Victorian Clinical Genetics Services"],"phenotypes":["Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300"],"mode_of_inheritance":"BOTH monoallelic and 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; 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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":[],"biotype":"protein_coding","hgnc_id":"HGNC:23663","gene_name":"vitamin K epoxide reductase complex subunit 1","omim_gene":["608547"],"alias_name":null,"gene_symbol":"VKORC1","hgnc_symbol":"VKORC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:31102163-31107301","ensembl_id":"ENSG00000167397"}},"GRch38":{"90":{"location":"16:31090842-31095980","ensembl_id":"ENSG00000167397"}}},"hgnc_date_symbol_changed":"2004-02-04"},"entity_type":"gene","entity_name":"VKORC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14765194"],"evidence":["Expert list","Expert Review Green"],"phenotypes":["Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM# 607473"],"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":["FLJ10719"],"biotype":"protein_coding","hgnc_id":"HGNC:25568","gene_name":"Fanconi anemia complementation group I","omim_gene":["611360"],"alias_name":null,"gene_symbol":"FANCI","hgnc_symbol":"FANCI","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89787180-89860492","ensembl_id":"ENSG00000140525"}},"GRch38":{"90":{"location":"15:89243949-89317261","ensembl_id":"ENSG00000140525"}}},"hgnc_date_symbol_changed":"2007-05-03"},"entity_type":"gene","entity_name":"FANCI","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17452773","20301575","26590883"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Fanconi anaemia, complementation group I, MIM#609053"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HMT-1","HMAT1","CDG1K","Mat-1"],"biotype":"protein_coding","hgnc_id":"HGNC:18294","gene_name":"ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase","omim_gene":["605907"],"alias_name":null,"gene_symbol":"ALG1","hgnc_symbol":"ALG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:5083703-5137380","ensembl_id":"ENSG00000033011"}},"GRch38":{"90":{"location":"16:5033960-5087379","ensembl_id":"ENSG00000033011"}}},"hgnc_date_symbol_changed":"2003-10-15"},"entity_type":"gene","entity_name":"ALG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26931382","24157261","14973782"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Congenital disorder of glycosylation, type Ik, MIM# 608540"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:321","gene_name":"amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase","omim_gene":["610860"],"alias_name":["glycogen debranching enzyme","glycogen storage disease type III"],"gene_symbol":"AGL","hgnc_symbol":"AGL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:100315640-100389579","ensembl_id":"ENSG00000162688"}},"GRch38":{"90":{"location":"1:99850084-99924023","ensembl_id":"ENSG00000162688"}}},"hgnc_date_symbol_changed":"1992-07-29"},"entity_type":"gene","entity_name":"AGL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26885414","20301788","35834487","27106217"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Glycogen storage disease IIIa and IIIb, MIM#232400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MCAD","MCADH","ACAD1"],"biotype":"protein_coding","hgnc_id":"HGNC:89","gene_name":"acyl-CoA dehydrogenase medium chain","omim_gene":["607008"],"alias_name":["medium-chain acyl-CoA dehydrogenase"],"gene_symbol":"ACADM","hgnc_symbol":"ACADM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:76190036-76253260","ensembl_id":"ENSG00000117054"}},"GRch38":{"90":{"location":"1:75724347-75787575","ensembl_id":"ENSG00000117054"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ACADM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9158144"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CDHR15"],"biotype":"protein_coding","hgnc_id":"HGNC:14674","gene_name":"protocadherin related 15","omim_gene":["605514"],"alias_name":["cadherin-related family member 15"],"gene_symbol":"PCDH15","hgnc_symbol":"PCDH15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:55562531-57387702","ensembl_id":"ENSG00000150275"}},"GRch38":{"90":{"location":"10:53802771-55627942","ensembl_id":"ENSG00000150275"}}},"hgnc_date_symbol_changed":"2001-02-27"},"entity_type":"gene","entity_name":"PCDH15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11398101","11487575","11138007","12782354","16260500","14570705","25930172","28281779"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Usher syndrome, type 1F, MIM# 602083"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1093"],"biotype":"protein_coding","hgnc_id":"HGNC:29190","gene_name":"trinucleotide repeat containing 6B","omim_gene":["610740"],"alias_name":null,"gene_symbol":"TNRC6B","hgnc_symbol":"TNRC6B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:40440821-40731812","ensembl_id":"ENSG00000100354"}},"GRch38":{"90":{"location":"22:40044817-40335808","ensembl_id":"ENSG00000100354"}}},"hgnc_date_symbol_changed":"2004-12-17"},"entity_type":"gene","entity_name":"TNRC6B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["29463886","32152250","38300321","38404251"],"evidence":["Expert Review Amber","Expert Review","Expert list"],"phenotypes":["Global developmental delay with speech and behavioral abnormalities, MIM# 619243"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4290,"hash_id":null,"name":"Speech apraxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Childhood apraxia of speech (CAS; synonymous with speech apraxia/dyspraxia or verbal apraxia/dyspraxia) is a non-progressive neurodevelopmental disorder with a primary presentation of speech planning and programming disorder.\r\n\r\nCAS involves difficulty producing sequences of sounds with accuracy and correct prosody, resulting in poor speech intelligibility. Individuals with CAS typically have very delayed development of first spoken words. Other common co-occurring features may include fine and gross motor impairment, language impairment, learning difficulties, intellectual disability, autism and attention deficit hyperactivity disorder. Other associated features may include hypotonia, seizures, and facial dysmorphism/dysmorphology.\r\n \r\nPMID: 38366112 summarises three gene discovery cohort studies of individuals with CAS. Diagnostic yield ranged between 26-42%.\r\n\r\nThe aetiology of CAS is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia and Ataxia panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Angela Morgan, Michael Hildebrand, Thomas Scerri, David Amor and team for their contribution to the development of this panel.","status":"public","version":"1.28","version_created":"2026-03-06T16:38:48.591739+11:00","relevant_disorders":[],"stats":{"number_of_genes":35,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CMD1I","CSM1","CSM2"],"biotype":"protein_coding","hgnc_id":"HGNC:2770","gene_name":"desmin","omim_gene":["125660"],"alias_name":["intermediate filament protein"],"gene_symbol":"DES","hgnc_symbol":"DES","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:220283099-220291461","ensembl_id":"ENSG00000175084"}},"GRch38":{"90":{"location":"2:219418377-219426739","ensembl_id":"ENSG00000175084"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"DES","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39252922","16376610","16890305"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["heart conduction disease MONDO:0000992"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4422,"hash_id":null,"name":"Cardiac conduction disease","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes associated with cardiac conduction disease, including heart block and abnormal atrioventricular conduction. It contains all the genes associated with Sick sinus syndrome.\r\n\r\nThis panel is based on the PanelApp UK \"Progressive cardiac conduction disease\" panel, with thanks to Genomics England. It is a constituent of the Arrhythmia Superpanel and Adult Cardiac Superpanel.","status":"public","version":"1.6","version_created":"2026-02-19T13:33:52.737749+11:00","relevant_disorders":["Cardiac conduction abnormality","HP:0031546"],"stats":{"number_of_genes":20,"number_of_strs":0,"number_of_regions":0},"types":[{"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."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ40126"],"biotype":"protein_coding","hgnc_id":"HGNC:26846","gene_name":"chromosome 12 open reading frame 40","omim_gene":null,"alias_name":null,"gene_symbol":"C12orf40","hgnc_symbol":"C12orf40","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:40019969-40302102","ensembl_id":"ENSG00000180116"}},"GRch38":{"90":{"location":"12:39626167-39908300","ensembl_id":"ENSG00000180116"}}},"hgnc_date_symbol_changed":"2006-01-23"},"entity_type":"gene","entity_name":"C12orf40","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["41580510","37612290","37604834"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Infertility disorder, MONDO:0005047, C12orf40-related"],"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":"1.137","version_created":"2026-03-31T15:48:32.205924+11:00","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":["RAD10"],"biotype":"protein_coding","hgnc_id":"HGNC:3433","gene_name":"ERCC excision repair 1, endonuclease non-catalytic subunit","omim_gene":["126380"],"alias_name":null,"gene_symbol":"ERCC1","hgnc_symbol":"ERCC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:45910591-45982086","ensembl_id":"ENSG00000012061"}},"GRch38":{"90":{"location":"19:45407333-45478828","ensembl_id":"ENSG00000012061"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ERCC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["17273966","23623389","32557569","26085086","33315086"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["cerebrooculofacioskeletal syndrome 4 MONDO:0012554","Xeroderma pigmentosum"],"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":["KIP1","P27KIP1"],"biotype":"protein_coding","hgnc_id":"HGNC:1785","gene_name":"cyclin dependent kinase inhibitor 1B","omim_gene":["600778"],"alias_name":null,"gene_symbol":"CDKN1B","hgnc_symbol":"CDKN1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:12867992-12875305","ensembl_id":"ENSG00000111276"}},"GRch38":{"90":{"location":"12:12715058-12722371","ensembl_id":"ENSG00000111276"}}},"hgnc_date_symbol_changed":"1995-09-14"},"entity_type":"gene","entity_name":"CDKN1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24819502","17030811","23555276"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Multiple endocrine neoplasia type 4, MEN4, OMIM #610755"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4526,"hash_id":null,"name":"Hyperparathyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Calcium disorders","description":"This panel contains genes associated with primary hyperparathyroidism \r\n(and includes some cancer predisposition disorders). \r\n\r\nIt includes genes from the Genomics England PanelApp 'familial hyperparathyroidism or hypocalciuric hypercalcaemia' panel V3.6.","status":"public","version":"0.12","version_created":"2026-01-30T09:51:01.481999+11:00","relevant_disorders":[],"stats":{"number_of_genes":6,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"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}]}