{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=311","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=309","results":[{"gene_data":{"alias":["MGC8685","DKFZp566F223","bA506K6.1"],"biotype":"protein_coding","hgnc_id":"HGNC:30829","gene_name":"tubulin beta 2B class IIb","omim_gene":["612850"],"alias_name":["class IIb beta-tubulin"],"gene_symbol":"TUBB2B","hgnc_symbol":"TUBB2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:3224495-3231964","ensembl_id":"ENSG00000137285"}},"GRch38":{"90":{"location":"6:3224261-3231730","ensembl_id":"ENSG00000137285"}}},"hgnc_date_symbol_changed":"2005-11-03"},"entity_type":"gene","entity_name":"TUBB2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":18,"hash_id":null,"name":"Polymicrogyria and Schizencephaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and used by the Australian Genomics Brain Malformations Flagship. 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Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CLC4","ClC-4"],"biotype":"protein_coding","hgnc_id":"HGNC:2022","gene_name":"chloride voltage-gated channel 4","omim_gene":["302910"],"alias_name":null,"gene_symbol":"CLCN4","hgnc_symbol":"CLCN4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:10125024-10205700","ensembl_id":"ENSG00000073464"}},"GRch38":{"90":{"location":"X:10156945-10237660","ensembl_id":"ENSG00000073464"}}},"hgnc_date_symbol_changed":"1994-01-28"},"entity_type":"gene","entity_name":"CLCN4","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["PMID: 27550844"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Raynaud-Claes syndrome, MIM#\t300114","autism","intellectual disability","hypoplasia or agenesis of the corpus callosum","bipolar"],"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":51,"hash_id":null,"name":"Autism","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.248","version_created":"2026-03-19T12:51:18.584438+11:00","relevant_disorders":["Autism","HP:0000717"],"stats":{"number_of_genes":157,"number_of_strs":0,"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":["FLJ11113","KIAA1461"],"biotype":"protein_coding","hgnc_id":"HGNC:20444","gene_name":"methyl-CpG binding domain protein 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VCGS.","status":"public","version":"0.248","version_created":"2026-03-19T12:51:18.584438+11:00","relevant_disorders":["Autism","HP:0000717"],"stats":{"number_of_genes":157,"number_of_strs":0,"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":["FLJ23403","FLJ23144","HsT748","HsT771","FLJ34907"],"biotype":"protein_coding","hgnc_id":"HGNC:26270","gene_name":"piezo type mechanosensitive ion channel component 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blepharophimosis.","status":"public","version":"1.3","version_created":"2025-04-27T09:04:52.368864+10:00","relevant_disorders":["Blepharophimosis","HP:0000581"],"stats":{"number_of_genes":23,"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":["RecQ4"],"biotype":"protein_coding","hgnc_id":"HGNC:9949","gene_name":"RecQ like helicase 4","omim_gene":["603780"],"alias_name":null,"gene_symbol":"RECQL4","hgnc_symbol":"RECQL4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:145736667-145743229","ensembl_id":"ENSG00000160957"}},"GRch38":{"90":{"location":"8:144511288-144517845","ensembl_id":"ENSG00000160957"}}},"hgnc_date_symbol_changed":"2014-03-07"},"entity_type":"gene","entity_name":"RECQL4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40485636","37228773","36164748","33294214"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Rothmund-Thomson syndrome, type 2, MIM#\t268400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ32769","FLJ16363"],"biotype":"protein_coding","hgnc_id":"HGNC:17109","gene_name":"ADAM metallopeptidase with thrombospondin type 1 motif 17","omim_gene":["607511"],"alias_name":null,"gene_symbol":"ADAMTS17","hgnc_symbol":"ADAMTS17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:100511794-100882210","ensembl_id":"ENSG00000140470"}},"GRch38":{"90":{"location":"15:99971589-100342005","ensembl_id":"ENSG00000140470"}}},"hgnc_date_symbol_changed":"2002-02-13"},"entity_type":"gene","entity_name":"ADAMTS17","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["19836009","22486325","24940034"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Weill-Marchesani 4 syndrome, recessive, MIM# 613195"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Ndt80","pqn-47","MRF"],"biotype":"protein_coding","hgnc_id":"HGNC:1181","gene_name":"myelin regulatory factor","omim_gene":["608329"],"alias_name":["myelin gene regulatory factor"],"gene_symbol":"MYRF","hgnc_symbol":"MYRF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:61520114-61555990","ensembl_id":"ENSG00000124920"}},"GRch38":{"90":{"location":"11:61752642-61788518","ensembl_id":"ENSG00000124920"}}},"hgnc_date_symbol_changed":"2012-12-19"},"entity_type":"gene","entity_name":"MYRF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29446546","29446546","30532227","31069960"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cardiac-urogenital syndrome, MIM#\t618280"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":69,"hash_id":null,"name":"Congenital diaphragmatic hernia","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with syndromic and non-syndromic congenital diaphragmatic hernia.\r\n\r\nNote pathogenic variants in a broad range of genes have been ascertained in CDH cohorts (e.g. PMID 33461977), so a broader testing approach is recommended particularly in the perinatal period.","status":"public","version":"1.18","version_created":"2025-11-21T16:59:26.431729+11:00","relevant_disorders":["Congenital diaphragmatic hernia HP:0000776"],"stats":{"number_of_genes":49,"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":["PIG2","TP53I2"],"biotype":"protein_coding","hgnc_id":"HGNC:4136","gene_name":"guanidinoacetate N-methyltransferase","omim_gene":["601240"],"alias_name":null,"gene_symbol":"GAMT","hgnc_symbol":"GAMT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:1397091-1401569","ensembl_id":"ENSG00000130005"}},"GRch38":{"90":{"location":"19:1397026-1401570","ensembl_id":"ENSG00000130005"}}},"hgnc_date_symbol_changed":"1996-07-19"},"entity_type":"gene","entity_name":"GAMT","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Cerebral creatine deficiency syndrome 2, MIM#612736"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1235","ELD/OSA1","p250R","BAF250b","DAN15","6A3-5"],"biotype":"protein_coding","hgnc_id":"HGNC:18040","gene_name":"AT-rich interaction domain 1B","omim_gene":["614556"],"alias_name":null,"gene_symbol":"ARID1B","hgnc_symbol":"ARID1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:157099063-157531913","ensembl_id":"ENSG00000049618"}},"GRch38":{"90":{"location":"6:156777374-157210779","ensembl_id":"ENSG00000049618"}}},"hgnc_date_symbol_changed":"2004-01-28"},"entity_type":"gene","entity_name":"ARID1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["35579625","35445787","29549119","34324492"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Coffin-Siris syndrome 1, MIM# 135900"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":76,"hash_id":null,"name":"Congenital Heart Defect","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.","status":"public","version":"0.534","version_created":"2026-03-30T13:14:35.719896+11:00","relevant_disorders":["Abnormal heart morphology HP:0001627"],"stats":{"number_of_genes":253,"number_of_strs":1,"number_of_regions":10},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8966","gene_name":"phosphatidylinositol glycan anchor biosynthesis class L","omim_gene":["605947"],"alias_name":["N-acetylglucosaminylphosphatidylinositol deacetylase"],"gene_symbol":"PIGL","hgnc_symbol":"PIGL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:16120505-16252115","ensembl_id":"ENSG00000108474"}},"GRch38":{"90":{"location":"17:16217191-16351797","ensembl_id":"ENSG00000108474"}}},"hgnc_date_symbol_changed":"1999-04-15"},"entity_type":"gene","entity_name":"PIGL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["22444671"],"evidence":["Expert Review Green","Literature"],"phenotypes":["CHIME syndrome, MIIM#\t280000"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":76,"hash_id":null,"name":"Congenital Heart Defect","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.","status":"public","version":"0.534","version_created":"2026-03-30T13:14:35.719896+11:00","relevant_disorders":["Abnormal heart morphology HP:0001627"],"stats":{"number_of_genes":253,"number_of_strs":1,"number_of_regions":10},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6601","gene_name":"DNA ligase 4","omim_gene":["601837"],"alias_name":["polydeoxyribonucleotide synthase [ATP] 4","polynucleotide ligase","sealase","DNA repair enzyme","DNA joinase"],"gene_symbol":"LIG4","hgnc_symbol":"LIG4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:108859787-108870716","ensembl_id":"ENSG00000174405"}},"GRch38":{"90":{"location":"13:108207439-108218368","ensembl_id":"ENSG00000174405"}}},"hgnc_date_symbol_changed":"1995-08-10"},"entity_type":"gene","entity_name":"LIG4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11779494","16088910","15333585","20133615"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["LIG4 syndrome, MIM# 606593"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":79,"hash_id":null,"name":"Chromosome Breakage Disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created and is maintained by VCGS.\r\n\r\nChromosomal instability syndromes are a group of inherited disorders associated with chromosomal instability and breakage either spontaneously or in response to DNA damaging agents. They include ataxia telangiectasia, Bloom syndrome, Fanconi anaemia, Nijmegen breakage syndrome, immunodeficiency/centromeric instability/facial anomalies syndrome, Cockayne syndrome, trichothiodystrophy, xeroderma pigmentosum, DNA ligase I deficiency, and DNA recombinase repair defects.\r\n\r\nTypical features include impairment of growth, immunodeficiency, predisposition to infectious disease, and the risk of developing certain types of malignancies.","status":"public","version":"1.24","version_created":"2025-10-16T15:58:38.818741+11:00","relevant_disorders":["Chromosome breakage HP:0040012"],"stats":{"number_of_genes":60,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ARFL3"],"biotype":"protein_coding","hgnc_id":"HGNC:694","gene_name":"ADP ribosylation factor like GTPase 3","omim_gene":["604695"],"alias_name":null,"gene_symbol":"ARL3","hgnc_symbol":"ARL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:104433488-104474164","ensembl_id":"ENSG00000138175"}},"GRch38":{"90":{"location":"10:102673731-102714407","ensembl_id":"ENSG00000138175"}}},"hgnc_date_symbol_changed":"1994-04-14"},"entity_type":"gene","entity_name":"ARL3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30269812","16565502"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Joubert syndrome 35 MIM#618161"],"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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:939","gene_name":"BCL2 associated athanogene 3","omim_gene":["603883"],"alias_name":null,"gene_symbol":"BAG3","hgnc_symbol":"BAG3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:121410882-121437331","ensembl_id":"ENSG00000151929"}},"GRch38":{"90":{"location":"10:119651370-119677819","ensembl_id":"ENSG00000151929"}}},"hgnc_date_symbol_changed":"1999-04-23"},"entity_type":"gene","entity_name":"BAG3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21353195","25008357","25448463","24623017","27391596","28211974","30442290","31983221","28737513","29323723","33947203"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cardiomyopathy, dilated, 1HH, MIM# 613881","MONDO:0013479"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":95,"hash_id":null,"name":"Dilated Cardiomyopathy","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes typically associated with isolated dilated cardiomyopathy, with onset in adolescence or adulthood. For early onset dilated cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England 'Dilated Cardiomyopathy - teen and adult' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England 5/8/2020.\r\n\r\nThe panel is aligned with the assessments of DCM genes by ClinGen, Jordan E et al, 2021, PMID 33947203.","status":"public","version":"1.66","version_created":"2026-04-02T19:34:23.537467+11:00","relevant_disorders":["Dilated cardiomyopathy","HP:0001644"],"stats":{"number_of_genes":69,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ00101","DKFZp761L1518"],"biotype":"protein_coding","hgnc_id":"HGNC:25430","gene_name":"leucine rich repeat containing 56","omim_gene":null,"alias_name":null,"gene_symbol":"LRRC56","hgnc_symbol":"LRRC56","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:537527-554916","ensembl_id":"ENSG00000161328"}},"GRch38":{"90":{"location":"11:537527-554916","ensembl_id":"ENSG00000161328"}}},"hgnc_date_symbol_changed":"2005-10-18"},"entity_type":"gene","entity_name":"LRRC56","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 30388400"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Ciliary dyskinesia, primary, 39\t618254"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":108,"hash_id":null,"name":"Heterotaxy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Laterality disorders and isomerism' panel V1.19, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.45","version_created":"2026-03-17T16:09:39.911604+11:00","relevant_disorders":["Heterotaxy","HP:0030853; Dextrocardia","HP:0001651; Asplenia","HP:0001746; Abnormal spatial orientation of cardiac segments","HP:0011534; Polysplenia","HP:0001748;Midline liver","HP:0034188"],"stats":{"number_of_genes":67,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["G6PD1"],"biotype":"protein_coding","hgnc_id":"HGNC:4057","gene_name":"glucose-6-phosphate dehydrogenase","omim_gene":["305900"],"alias_name":null,"gene_symbol":"G6PD","hgnc_symbol":"G6PD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153759606-153775787","ensembl_id":"ENSG00000160211"}},"GRch38":{"90":{"location":"X:154531391-154547572","ensembl_id":"ENSG00000160211"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"G6PD","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["23719252","24999569"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Hemolytic anemia, G6PD deficient (favism), MIM#\t300908"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["LFA-1","MAC-1"],"biotype":"protein_coding","hgnc_id":"HGNC:6155","gene_name":"integrin subunit beta 2","omim_gene":["600065"],"alias_name":["complement component 3 receptor 3 and 4 subunit"],"gene_symbol":"ITGB2","hgnc_symbol":"ITGB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:46305868-46351904","ensembl_id":"ENSG00000160255"}},"GRch38":{"90":{"location":"21:44885953-44931989","ensembl_id":"ENSG00000160255"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ITGB2","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":123,"hash_id":null,"name":"Inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.126","version_created":"2025-10-16T15:50:33.114198+11:00","relevant_disorders":["Gastrointestinal inflammation","HP:0004386"],"stats":{"number_of_genes":85,"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":["KIAA0373","FLJ13615","3H11Ag","rd16","NPHP6","JBTS5","SLSN6","LCA10","MKS4","BBS14","CT87","POC3"],"biotype":"protein_coding","hgnc_id":"HGNC:29021","gene_name":"centrosomal protein 290","omim_gene":["610142"],"alias_name":["Joubert syndrome 5","nephrocystin-6","cancer/testis antigen 87","POC3 centriolar protein homolog (Chlamydomonas)","Meckel syndrome, type 4","Bardet-Biedl syndrome 14"],"gene_symbol":"CEP290","hgnc_symbol":"CEP290","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:88442793-88535993","ensembl_id":"ENSG00000198707"}},"GRch38":{"90":{"location":"12:88049014-88142216","ensembl_id":"ENSG00000198707"}}},"hgnc_date_symbol_changed":"2006-02-20"},"entity_type":"gene","entity_name":"CEP290","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16682973","16682970","17705300","33370260","32600475"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 5, MIM# 610188","Meckel syndrome 4, MIM# 611134"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":129,"hash_id":null,"name":"Joubert syndrome and other neurological ciliopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes associated with Joubert syndrome, Meckel Gruber syndrome and other ciliopathies where structural CNS abnormalities are prominent.\r\n\r\nPlease consider also applying the Cerebellar and Pontocerebellar Hypoplasia panel in the presence of more non-specific cerebellar abnormalities and applying the Ciliopathy panel in the presence of additional clinical features suggestive of a multi-system ciliopathy.","status":"public","version":"1.33","version_created":"2025-12-16T12:55:34.757878+11:00","relevant_disorders":["Molar tooth sign on MRI","HP:0002419; Joubert syndrome","MONDO:0018772"],"stats":{"number_of_genes":69,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2527","gene_name":"cathepsin B","omim_gene":["116810"],"alias_name":null,"gene_symbol":"CTSB","hgnc_symbol":"CTSB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:11700033-11726957","ensembl_id":"ENSG00000164733"}},"GRch38":{"90":{"location":"8:11842524-11869448","ensembl_id":"ENSG00000164733"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CTSB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["28457472"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Keratolytic winter erythema, MIM# 148370"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":"Other","publications":["23059812","17056636"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cardiofaciocutaneous syndrome 2 615278","Noonan syndrome 3 609942","RAS-associated autoimmune leukoproliferative disorder 614470","Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5227","gene_name":"heat shock transcription factor 4","omim_gene":["602438"],"alias_name":null,"gene_symbol":"HSF4","hgnc_symbol":"HSF4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:67197288-67203848","ensembl_id":"ENSG00000102878"}},"GRch38":{"90":{"location":"16:67164681-67169945","ensembl_id":"ENSG00000102878"}}},"hgnc_date_symbol_changed":"1998-03-17"},"entity_type":"gene","entity_name":"HSF4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31815953","29243736","26490182"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cataract 5, multiple types, 116800"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ23277","FLJ11328","FLJ20103","FLJ23054","MGC14879"],"biotype":"protein_coding","hgnc_id":"HGNC:18533","gene_name":"ubiquitin specific peptidase 48","omim_gene":["617445"],"alias_name":null,"gene_symbol":"USP48","hgnc_symbol":"USP48","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:22004791-22110099","ensembl_id":"ENSG00000090686"}},"GRch38":{"90":{"location":"1:21678298-21783606","ensembl_id":"ENSG00000090686"}}},"hgnc_date_symbol_changed":"2004-04-07"},"entity_type":"gene","entity_name":"USP48","confidence_level":"3","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":["34059922"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Deafness, autosomal dominant 85, MIM# 620227"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TIM22"],"biotype":"protein_coding","hgnc_id":"HGNC:17317","gene_name":"translocase of inner mitochondrial membrane 22","omim_gene":["607251"],"alias_name":null,"gene_symbol":"TIMM22","hgnc_symbol":"TIMM22","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:900357-906911","ensembl_id":"ENSG00000177370"}},"GRch38":{"90":{"location":"17:997117-1003671","ensembl_id":"ENSG00000177370"}}},"hgnc_date_symbol_changed":"2002-01-15"},"entity_type":"gene","entity_name":"TIMM22","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["30452684"],"evidence":["Expert Review Amber","NHS GMS"],"phenotypes":["Mitochondrial disease, MONDO:0044970, TIMM22-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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["P115-RHOGEF","SUB1.5","LBCL2"],"biotype":"protein_coding","hgnc_id":"HGNC:681","gene_name":"Rho guanine nucleotide exchange factor 1","omim_gene":["601855"],"alias_name":null,"gene_symbol":"ARHGEF1","hgnc_symbol":"ARHGEF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:42387228-42434302","ensembl_id":"ENSG00000076928"}},"GRch38":{"90":{"location":"19:41883161-41930150","ensembl_id":"ENSG00000076928"}}},"hgnc_date_symbol_changed":"2000-03-10"},"entity_type":"gene","entity_name":"ARHGEF1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["30521495"],"evidence":["Expert Review Amber","Expert list","Expert list"],"phenotypes":["Immunodeficiency 62, MIM#618459"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["hRrp40p","Rrp40p","RRP40","CGI-102","p10","hRrp-40"],"biotype":"protein_coding","hgnc_id":"HGNC:17944","gene_name":"exosome component 3","omim_gene":["606489"],"alias_name":["exosome component Rrp40","CGI-102 protein"],"gene_symbol":"EXOSC3","hgnc_symbol":"EXOSC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:37766975-37801434","ensembl_id":"ENSG00000107371"}},"GRch38":{"90":{"location":"9:37766978-37801437","ensembl_id":"ENSG00000107371"}}},"hgnc_date_symbol_changed":"2004-03-26"},"entity_type":"gene","entity_name":"EXOSC3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["30025162","38982518"],"evidence":["Expert Review Red","Literature"],"phenotypes":["congenital myopathy MONDO:0019952"],"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":["NMMHCA","NMHC-II-A","MHA","FTNS","EPSTS"],"biotype":"protein_coding","hgnc_id":"HGNC:7579","gene_name":"myosin heavy chain 9","omim_gene":["160775"],"alias_name":["nonmuscle myosin heavy chain II-A"],"gene_symbol":"MYH9","hgnc_symbol":"MYH9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:36677327-36784063","ensembl_id":"ENSG00000100345"}},"GRch38":{"90":{"location":"22:36281281-36388018","ensembl_id":"ENSG00000100345"}}},"hgnc_date_symbol_changed":"1990-03-12"},"entity_type":"gene","entity_name":"MYH9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":144,"hash_id":null,"name":"Proteinuria","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"To be used in individuals with suspected nephrotic syndrome and related conditions, part of the Renal Glomerular Disease Superpanel.\r\n\r\n09/01/2020: This panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.","status":"public","version":"0.239","version_created":"2026-03-12T18:51:41.043263+11:00","relevant_disorders":["Proteinuria HP:0000093"],"stats":{"number_of_genes":88,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["SEN34","SEN34L"],"biotype":"protein_coding","hgnc_id":"HGNC:15506","gene_name":"tRNA splicing endonuclease subunit 34","omim_gene":["608754"],"alias_name":null,"gene_symbol":"TSEN34","hgnc_symbol":"TSEN34","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:54693789-54697585","ensembl_id":"ENSG00000170892"}},"GRch38":{"90":{"location":"19:54189938-54194536","ensembl_id":"ENSG00000170892"}}},"hgnc_date_symbol_changed":"2005-03-12"},"entity_type":"gene","entity_name":"TSEN34","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Red","Literature"],"phenotypes":["Pontocerebellar hypoplasia type 2C, MIM#612390"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0833"],"biotype":"protein_coding","hgnc_id":"HGNC:18806","gene_name":"calmodulin binding transcription activator 1","omim_gene":["611501"],"alias_name":null,"gene_symbol":"CAMTA1","hgnc_symbol":"CAMTA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:6845384-7829766","ensembl_id":"ENSG00000171735"}},"GRch38":{"90":{"location":"1:6785324-7769706","ensembl_id":"ENSG00000171735"}}},"hgnc_date_symbol_changed":"2002-06-20"},"entity_type":"gene","entity_name":"CAMTA1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31957018"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Cerebellar dysfunction with variable cognitive and behavioral abnormalities MIM#614756"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Cav1.2","CACH2","CACN2","TS","LQT8"],"biotype":"protein_coding","hgnc_id":"HGNC:1390","gene_name":"calcium voltage-gated channel subunit alpha1 C","omim_gene":["114205"],"alias_name":null,"gene_symbol":"CACNA1C","hgnc_symbol":"CACNA1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:2079952-2802108","ensembl_id":"ENSG00000151067"}},"GRch38":{"90":{"location":"12:1970786-2697950","ensembl_id":"ENSG00000151067"}}},"hgnc_date_symbol_changed":"1991-01-30"},"entity_type":"gene","entity_name":"CACNA1C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34163037"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM#\t620029"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CGI-44","SQR"],"biotype":"protein_coding","hgnc_id":"HGNC:20390","gene_name":"sulfide quinone oxidoreductase","omim_gene":["617658"],"alias_name":null,"gene_symbol":"SQOR","hgnc_symbol":"SQOR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:45923346-45983492","ensembl_id":"ENSG00000137767"}},"GRch38":{"90":{"location":"15:45631148-45691294","ensembl_id":"ENSG00000137767"}}},"hgnc_date_symbol_changed":"2017-03-09"},"entity_type":"gene","entity_name":"SQOR","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32160317"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Leigh-like disorder","Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["EFTu","EF-TuMT","EFTU"],"biotype":"protein_coding","hgnc_id":"HGNC:12420","gene_name":"Tu translation elongation factor, mitochondrial","omim_gene":["602389"],"alias_name":null,"gene_symbol":"TUFM","hgnc_symbol":"TUFM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:28853732-28857729","ensembl_id":"ENSG00000178952"}},"GRch38":{"90":{"location":"16:28842411-28846408","ensembl_id":"ENSG00000178952"}}},"hgnc_date_symbol_changed":"1997-04-10"},"entity_type":"gene","entity_name":"TUFM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28132884","26741492","17160893","30903008"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Combined oxidative phosphorylation deficiency 4, OMIM #610678","MONDO:0012534"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal 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The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["T-cap","TELE","telethonin","CMD1N"],"biotype":"protein_coding","hgnc_id":"HGNC:11610","gene_name":"titin-cap","omim_gene":["604488"],"alias_name":["19 kDa sarcomeric protein","teneurin C-terminal associated peptide"],"gene_symbol":"TCAP","hgnc_symbol":"TCAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:37820440-37822808","ensembl_id":"ENSG00000173991"}},"GRch38":{"90":{"location":"17:39664187-39666555","ensembl_id":"ENSG00000173991"}}},"hgnc_date_symbol_changed":"2000-02-16"},"entity_type":"gene","entity_name":"TCAP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25055047","22029105","18948002"],"evidence":["Expert Review Green","Expert Review Green","Expert Review Green","Expert Review","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["Muscular dystrophy, limb-girdle, type 2G, 601954"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3071,"hash_id":null,"name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.65","version_created":"2026-01-21T10:59:30.179226+11:00","relevant_disorders":["Limb-girdle muscular dystrophy","MONDO:0016971; Proximal muscle weakness","HP:0003701; Distal myopathy MONDO:0018949"],"stats":{"number_of_genes":102,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PPO"],"biotype":"protein_coding","hgnc_id":"HGNC:9280","gene_name":"protoporphyrinogen oxidase","omim_gene":["600923"],"alias_name":null,"gene_symbol":"PPOX","hgnc_symbol":"PPOX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161136200-161147803","ensembl_id":"ENSG00000143224"}},"GRch38":{"90":{"location":"1:161166410-161178013","ensembl_id":"ENSG00000143224"}}},"hgnc_date_symbol_changed":"1988-08-31"},"entity_type":"gene","entity_name":"PPOX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27982422","9811936","11286631","33159949"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Porphyria variegata, MIM# 176200","Variegate porphyria, childhood-onset, MIM# 620483"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3077,"hash_id":null,"name":"Haem degradation and bilirubin metabolism defects","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause disorders of tetrapyrroles, including porphyria and disorders of bilirubin metabolism and biliary transport. \r\n\r\nThis panel is part of the Metabolic Disorders Superpanl. It was developed and maintained by RMH, and is a consensus panel used by VCGS.","status":"public","version":"0.20","version_created":"2026-02-22T15:38:52.606788+11:00","relevant_disorders":["Porphyria","MONDO:0037939;Abnormal circulating porphyrin concentration","HP:0010472;Hyperbilirubinemia","HP:0002904"],"stats":{"number_of_genes":25,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["trnV"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7500","gene_name":"mitochondrially encoded tRNA valine","omim_gene":["590105"],"alias_name":null,"gene_symbol":"MT-TV","hgnc_symbol":"MT-TV","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:1602-1670","ensembl_id":"ENSG00000210077"}},"GRch38":{"90":{"location":"MT:1602-1670","ensembl_id":"ENSG00000210077"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TV","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["9450773","12056939","19252805","15320572","18314141","24691472","39468830"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TV-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":3084,"hash_id":null,"name":"Rhabdomyolysis and Metabolic Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nDepending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.46","version_created":"2026-03-31T19:05:14.301918+11:00","relevant_disorders":["Rhabdomyolysis","HP:0003201;Exercise intolerance","HP:0003546;Metabolic myopathy","MONDO:0020123"],"stats":{"number_of_genes":124,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1667","LE","BLOC3S2"],"biotype":"protein_coding","hgnc_id":"HGNC:15844","gene_name":"HPS4, biogenesis of lysosomal organelles complex 3 subunit 2","omim_gene":["606682"],"alias_name":null,"gene_symbol":"HPS4","hgnc_symbol":"HPS4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:26839389-26879803","ensembl_id":"ENSG00000100099"}},"GRch38":{"90":{"location":"22:26443423-26483837","ensembl_id":"ENSG00000100099"}}},"hgnc_date_symbol_changed":"2001-06-28"},"entity_type":"gene","entity_name":"HPS4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hermansky-Pudlak syndrome 4, 614073 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9608","gene_name":"parathyroid hormone 1 receptor","omim_gene":["168468"],"alias_name":null,"gene_symbol":"PTH1R","hgnc_symbol":"PTH1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:46919236-46945287","ensembl_id":"ENSG00000160801"}},"GRch38":{"90":{"location":"3:46877746-46903799","ensembl_id":"ENSG00000160801"}}},"hgnc_date_symbol_changed":"2008-11-18"},"entity_type":"gene","entity_name":"PTH1R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Chondrodysplasia, Blomstrand type, 215045 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TBDN100","NATH","FLJ13340"],"biotype":"protein_coding","hgnc_id":"HGNC:30782","gene_name":"N(alpha)-acetyltransferase 15, NatA auxiliary subunit","omim_gene":["608000"],"alias_name":null,"gene_symbol":"NAA15","hgnc_symbol":"NAA15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:140222609-140341187","ensembl_id":"ENSG00000164134"}},"GRch38":{"90":{"location":"4:139301455-139420033","ensembl_id":"ENSG00000164134"}}},"hgnc_date_symbol_changed":"2010-01-14"},"entity_type":"gene","entity_name":"NAA15","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["33103328"],"evidence":["Expert Review Amber","NHS GMS"],"phenotypes":["Mental retardation, autosomal dominant 50, MIM#\t617787","cardiomyopathy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["C-193","ALRP","CARP","CVARP","MCARP"],"biotype":"protein_coding","hgnc_id":"HGNC:15819","gene_name":"ankyrin repeat domain 1","omim_gene":["609599"],"alias_name":null,"gene_symbol":"ANKRD1","hgnc_symbol":"ANKRD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:92671853-92681033","ensembl_id":"ENSG00000148677"}},"GRch38":{"90":{"location":"10:90912096-90921276","ensembl_id":"ENSG00000148677"}}},"hgnc_date_symbol_changed":"2003-11-10"},"entity_type":"gene","entity_name":"ANKRD1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["South West GLH","London South GLH","Expert Review Red","NHS GMS"],"phenotypes":["Dilated Cardiomyopathy, Dominant"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:16882","gene_name":"hyperpolarization activated cyclic nucleotide gated potassium channel 4","omim_gene":["605206"],"alias_name":null,"gene_symbol":"HCN4","hgnc_symbol":"HCN4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:73612200-73661605","ensembl_id":"ENSG00000138622"}},"GRch38":{"90":{"location":"15:73319859-73369264","ensembl_id":"ENSG00000138622"}}},"hgnc_date_symbol_changed":"2002-09-02"},"entity_type":"gene","entity_name":"HCN4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DDBB","UV-DDB2","FLJ34321","XPE"],"biotype":"protein_coding","hgnc_id":"HGNC:2718","gene_name":"damage specific DNA binding protein 2","omim_gene":["600811"],"alias_name":["xeroderma pigmentosum group E protein","UV-damaged DNA-binding protein 2","DDB p48 subunit"],"gene_symbol":"DDB2","hgnc_symbol":"DDB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:47236493-47260767","ensembl_id":"ENSG00000134574"}},"GRch38":{"90":{"location":"11:47214465-47239240","ensembl_id":"ENSG00000134574"}}},"hgnc_date_symbol_changed":"1995-07-06"},"entity_type":"gene","entity_name":"DDB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Xeroderma pigmentosum"],"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":["KIAA1260","NLGN","HLNX"],"biotype":"protein_coding","hgnc_id":"HGNC:14287","gene_name":"neuroligin 4, X-linked","omim_gene":["300427"],"alias_name":null,"gene_symbol":"NLGN4X","hgnc_symbol":"NLGN4X","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:5758678-6146904","ensembl_id":"ENSG00000146938"}},"GRch38":{"90":{"location":"X:5840637-6228863","ensembl_id":"ENSG00000146938"}}},"hgnc_date_symbol_changed":"2004-05-26"},"entity_type":"gene","entity_name":"NLGN4X","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Autism"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TRK"],"biotype":"protein_coding","hgnc_id":"HGNC:12012","gene_name":"tropomyosin 3","omim_gene":["191030"],"alias_name":null,"gene_symbol":"TPM3","hgnc_symbol":"TPM3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:154127784-154167124","ensembl_id":"ENSG00000143549"}},"GRch38":{"90":{"location":"1:154155304-154194648","ensembl_id":"ENSG00000143549"}}},"hgnc_date_symbol_changed":"1991-07-18"},"entity_type":"gene","entity_name":"TPM3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Nemaline myopathy","Congenital fiber-type disproportion myopathy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["COXIV-2","COX4B","dJ857M17.2","COX4-2"],"biotype":"protein_coding","hgnc_id":"HGNC:16232","gene_name":"cytochrome c oxidase subunit 4I2","omim_gene":["607976"],"alias_name":["cytochrome c oxidase subunit IV-like 2"],"gene_symbol":"COX4I2","hgnc_symbol":"COX4I2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:30225691-30232809","ensembl_id":"ENSG00000131055"}},"GRch38":{"90":{"location":"20:31637888-31645006","ensembl_id":"ENSG00000131055"}}},"hgnc_date_symbol_changed":"2001-12-03"},"entity_type":"gene","entity_name":"COX4I2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:361","gene_name":"adenylate kinase 1","omim_gene":["103000"],"alias_name":null,"gene_symbol":"AK1","hgnc_symbol":"AK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:130628759-130640022","ensembl_id":"ENSG00000106992"}},"GRch38":{"90":{"location":"9:127866480-127877743","ensembl_id":"ENSG00000106992"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"AK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28211224","2542324","9432020","10233365","34321014"],"evidence":["Expert Review Green","Yorkshire and North East GLH","NHS GMS","Wessex and West Midlands GLH","North West GLH","London South GLH"],"phenotypes":["Haemolytic anaemia due to adenylate kinase deficiency, MIM# 612631"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3366,"hash_id":null,"name":"Red cell disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.","status":"public","version":"1.52","version_created":"2026-03-28T15:18:36.006857+11:00","relevant_disorders":["Abnormal erythrocyte morphology","HP:0001877"],"stats":{"number_of_genes":116,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ22794","KIAA1895"],"biotype":"protein_coding","hgnc_id":"HGNC:24725","gene_name":"family with sequence similarity 111 member A","omim_gene":["615292"],"alias_name":null,"gene_symbol":"FAM111A","hgnc_symbol":"FAM111A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:58910221-58922512","ensembl_id":"ENSG00000166801"}},"GRch38":{"90":{"location":"11:59142748-59155039","ensembl_id":"ENSG00000166801"}}},"hgnc_date_symbol_changed":"2006-02-06"},"entity_type":"gene","entity_name":"FAM111A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23684011","16086393"],"evidence":["Radboud University Medical Center, Nijmegen","Expert list"],"phenotypes":["602361","Gracile bone dysplasia"],"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":["MSF1","KIAA0991","PNUTL4","AF17q25","SeptD1"],"biotype":"protein_coding","hgnc_id":"HGNC:7323","gene_name":"septin 9","omim_gene":["604061"],"alias_name":["Ov/Br septin"],"gene_symbol":"SEPT9","hgnc_symbol":"SEPT9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:75276651-75496678","ensembl_id":"ENSG00000184640"}},"GRch38":{"90":{"location":"17:77280569-77500596","ensembl_id":"ENSG00000184640"}}},"hgnc_date_symbol_changed":"2005-01-12"},"entity_type":"gene","entity_name":"SEPT9","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["16186812","19451530","19939853","19139049","18492087"],"evidence":["Expert Review Amber"],"phenotypes":["HNA","Amyotrophy, hereditary neuralgic, MIM# 162100"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV","5'UTR","founder","new gene name"],"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":["hSNF2b","BRG1","BAF190","SNF2","SWI2","SNF2-BETA","SNF2LB","FLJ39786"],"biotype":"protein_coding","hgnc_id":"HGNC:11100","gene_name":"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4","omim_gene":["603254"],"alias_name":["SNF2-like 4","global transcription activator homologous sequence","sucrose nonfermenting-like 4","mitotic growth and transcription activator","BRM/SWI2-related gene 1","homeotic gene regulator","nuclear protein GRB1","brahma protein-like 1","ATP-dependent helicase SMARCA4"],"gene_symbol":"SMARCA4","hgnc_symbol":"SMARCA4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:11071598-11176071","ensembl_id":"ENSG00000127616"}},"GRch38":{"90":{"location":"19:10961001-11065395","ensembl_id":"ENSG00000127616"}}},"hgnc_date_symbol_changed":"1995-07-17"},"entity_type":"gene","entity_name":"SMARCA4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25168959","37010288"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Coffin-Siris syndrome 4, MIM# 614609"],"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":["MOCO1"],"biotype":"protein_coding","hgnc_id":"HGNC:7193","gene_name":"molybdenum cofactor synthesis 2","omim_gene":["603708"],"alias_name":null,"gene_symbol":"MOCS2","hgnc_symbol":"MOCS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:52391509-52405893","ensembl_id":"ENSG00000164172"}},"GRch38":{"90":{"location":"5:53095679-53110063","ensembl_id":"ENSG00000164172"}}},"hgnc_date_symbol_changed":"1998-07-23"},"entity_type":"gene","entity_name":"MOCS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27604308","10053004"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Molybdenum cofactor deficiency B MIM#252160","Disorders of molybdenum cofactor metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3482","gene_name":"electron transfer flavoprotein beta subunit","omim_gene":["130410"],"alias_name":null,"gene_symbol":"ETFB","hgnc_symbol":"ETFB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:51848423-51869672","ensembl_id":"ENSG00000105379"}},"GRch38":{"90":{"location":"19:51345169-51366418","ensembl_id":"ENSG00000105379"}}},"hgnc_date_symbol_changed":"1990-06-11"},"entity_type":"gene","entity_name":"ETFB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27081516"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Glutaric acidemia IIB\t231680"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3470,"hash_id":null,"name":"Hyperammonaemia","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with urea cycle disorders and other metabolic conditions that cause hyperammonaemia.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"0.10","version_created":"2023-03-02T14:41:08.610876+11:00","relevant_disorders":["Hyperammonaemia","HP:0001987"],"stats":{"number_of_genes":43,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2040","gene_name":"claudin 19","omim_gene":["610036"],"alias_name":null,"gene_symbol":"CLDN19","hgnc_symbol":"CLDN19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:43198764-43205925","ensembl_id":"ENSG00000164007"}},"GRch38":{"90":{"location":"1:42733093-42740254","ensembl_id":"ENSG00000164007"}}},"hgnc_date_symbol_changed":"2000-03-15"},"entity_type":"gene","entity_name":"CLDN19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27530400"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Hypomagnesaemia 5, renal, with ocular involvement, MIM# 248190","Amelogenesis imperfecta"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3564,"hash_id":null,"name":"Amelogenesis imperfecta","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"1.14","version_created":"2026-01-09T15:02:14.439855+11:00","relevant_disorders":["Amelogenesis imperfecta","HP:0000705"],"stats":{"number_of_genes":41,"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":["GRB1","p85-ALPHA","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8979","gene_name":"phosphoinositide-3-kinase regulatory subunit 1","omim_gene":["171833"],"alias_name":["phosphoinositide-3-kinase regulatory subunit alpha"],"gene_symbol":"PIK3R1","hgnc_symbol":"PIK3R1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:67511548-67597649","ensembl_id":"ENSG00000145675"}},"GRch38":{"90":{"location":"5:68215720-68301821","ensembl_id":"ENSG00000145675"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23810378","23810379","23810382"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["SHORT syndrome, OMIM # 269880"],"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":["PCDH-GAMMA-C4"],"biotype":"protein_coding","hgnc_id":"HGNC:8717","gene_name":"protocadherin gamma subfamily C, 4","omim_gene":["606305"],"alias_name":null,"gene_symbol":"PCDHGC4","hgnc_symbol":"PCDHGC4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:140864741-140892546","ensembl_id":"ENSG00000242419"}},"GRch38":{"90":{"location":"5:141484997-141512979","ensembl_id":"ENSG00000242419"}}},"hgnc_date_symbol_changed":"2000-06-28"},"entity_type":"gene","entity_name":"PCDHGC4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34244665"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ40629","radmis"],"biotype":"protein_coding","hgnc_id":"HGNC:26877","gene_name":"cytoskeleton associated protein 2 like","omim_gene":["616174"],"alias_name":["radial fiber and mitotic spindle"],"gene_symbol":"CKAP2L","hgnc_symbol":"CKAP2L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:113493930-113522254","ensembl_id":"ENSG00000169607"}},"GRch38":{"90":{"location":"2:112736607-112764677","ensembl_id":"ENSG00000169607"}}},"hgnc_date_symbol_changed":"2006-03-24"},"entity_type":"gene","entity_name":"CKAP2L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25439729","33913579","29473684"],"evidence":["Expert Review Green","Genomics England PanelApp","Literature"],"phenotypes":["Filippi syndrome, MIM# 272440"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Phox2b","NBPhox"],"biotype":"protein_coding","hgnc_id":"HGNC:9143","gene_name":"paired like homeobox 2b","omim_gene":["603851"],"alias_name":null,"gene_symbol":"PHOX2B","hgnc_symbol":"PHOX2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:41746099-41750987","ensembl_id":"ENSG00000109132"}},"GRch38":{"90":{"location":"4:41744082-41748970","ensembl_id":"ENSG00000109132"}}},"hgnc_date_symbol_changed":"2003-02-14"},"entity_type":"gene","entity_name":"PHOX2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14608649","15657873","15121777","26063465"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM #209880"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MFE-2","DBP","SDR8C1"],"biotype":"protein_coding","hgnc_id":"HGNC:5213","gene_name":"hydroxysteroid 17-beta dehydrogenase 4","omim_gene":["601860"],"alias_name":["17beta-estradiol dehydrogenase type IV","peroxisomal multifunctional protein 2","17-beta-HSD IV","17-beta-hydroxysteroid dehydrogenase 4","D-bifunctional protein, peroxisomal","D-3-hydroxyacyl-CoA dehydratase","3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase","beta-keto-reductase","beta-hydroxyacyl dehydrogenase","short chain dehydrogenase/reductase family 8C, member 1"],"gene_symbol":"HSD17B4","hgnc_symbol":"HSD17B4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:118788138-118972894","ensembl_id":"ENSG00000133835"}},"GRch38":{"90":{"location":"5:119452443-119637199","ensembl_id":"ENSG00000133835"}}},"hgnc_date_symbol_changed":"1994-09-14"},"entity_type":"gene","entity_name":"HSD17B4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27790638"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["D-bifunctional protein deficiency, AR (MIM#261515)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MT2-MMP","MTMMP2","SMCP-2"],"biotype":"protein_coding","hgnc_id":"HGNC:7161","gene_name":"matrix metallopeptidase 15","omim_gene":["602261"],"alias_name":null,"gene_symbol":"MMP15","hgnc_symbol":"MMP15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:58059470-58080805","ensembl_id":"ENSG00000102996"}},"GRch38":{"90":{"location":"16:58025566-58046901","ensembl_id":"ENSG00000102996"}}},"hgnc_date_symbol_changed":"1996-11-13"},"entity_type":"gene","entity_name":"MMP15","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33875846"],"evidence":["Expert Review Amber","Expert list","Literature"],"phenotypes":["Congenital heart disease"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RANK","CD265","FEO"],"biotype":"protein_coding","hgnc_id":"HGNC:11908","gene_name":"TNF receptor superfamily member 11a","omim_gene":["603499"],"alias_name":null,"gene_symbol":"TNFRSF11A","hgnc_symbol":"TNFRSF11A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:59992520-60058516","ensembl_id":"ENSG00000141655"}},"GRch38":{"90":{"location":"18:62325287-62391292","ensembl_id":"ENSG00000141655"}}},"hgnc_date_symbol_changed":"1998-12-04"},"entity_type":"gene","entity_name":"TNFRSF11A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["18606301","32048120"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Osteopetrosis, autosomal recessive 7 - MIM# 612301"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["QP-C","QCR8","UQCR7"],"biotype":"protein_coding","hgnc_id":"HGNC:29594","gene_name":"ubiquinol-cytochrome c reductase complex III subunit VII","omim_gene":["612080"],"alias_name":["ubiquinol-cytochrome c reductase, complex III subunit VII","complex III subunit 8"],"gene_symbol":"UQCRQ","hgnc_symbol":"UQCRQ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:132202252-132203723","ensembl_id":"ENSG00000164405"}},"GRch38":{"90":{"location":"5:132866560-132868031","ensembl_id":"ENSG00000164405"}}},"hgnc_date_symbol_changed":"2005-12-01"},"entity_type":"gene","entity_name":"UQCRQ","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["18439546"],"evidence":["Expert Review Red","Genomics England PanelApp","Expert list"],"phenotypes":["Mitochondrial complex III deficiency, nuclear type 4, MIM #615159"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ21127","TECT1","JBTS13"],"biotype":"protein_coding","hgnc_id":"HGNC:26113","gene_name":"tectonic family member 1","omim_gene":["609863"],"alias_name":null,"gene_symbol":"TCTN1","hgnc_symbol":"TCTN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:111051832-111087235","ensembl_id":"ENSG00000204852"}},"GRch38":{"90":{"location":"12:110614027-110649430","ensembl_id":"ENSG00000204852"}}},"hgnc_date_symbol_changed":"2007-08-20"},"entity_type":"gene","entity_name":"TCTN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21725307","26477546","31302911","26489806","22693042"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 13, MIM# 614173"],"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. 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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":["TIRC7","OC-116","OC116","ATP6N1C","Atp6i","a3","ATP6V0A3"],"biotype":"protein_coding","hgnc_id":"HGNC:11647","gene_name":"T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3","omim_gene":["604592"],"alias_name":["T-cell immune response cDNA 7"],"gene_symbol":"TCIRG1","hgnc_symbol":"TCIRG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:67806483-67818362","ensembl_id":"ENSG00000110719"}},"GRch38":{"90":{"location":"11:68039016-68050895","ensembl_id":"ENSG00000110719"}}},"hgnc_date_symbol_changed":"1999-02-15"},"entity_type":"gene","entity_name":"TCIRG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34624559","34210262","30084437","28816234"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Osteopetrosis, autosomal recessive 1 MIM#259700"],"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":["FLJ30273","SDR7C2","LCA13","RP53"],"biotype":"protein_coding","hgnc_id":"HGNC:19977","gene_name":"retinol dehydrogenase 12 (all-trans/9-cis/11-cis)","omim_gene":["608830"],"alias_name":["short chain dehydrogenase/reductase family 7C, member 2"],"gene_symbol":"RDH12","hgnc_symbol":"RDH12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:68168603-68201169","ensembl_id":"ENSG00000139988"}},"GRch38":{"90":{"location":"14:67701886-67734452","ensembl_id":"ENSG00000139988"}}},"hgnc_date_symbol_changed":"2002-12-11"},"entity_type":"gene","entity_name":"RDH12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31884613","19011012","28471114","34031043","35491887"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leber congenital amaurosis 13, MIM#612712"],"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":["TCI","TC1"],"biotype":"protein_coding","hgnc_id":"HGNC:11652","gene_name":"transcobalamin 1","omim_gene":["189905"],"alias_name":["haptocorin","haptocorrin"],"gene_symbol":"TCN1","hgnc_symbol":"TCN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:59620273-59634048","ensembl_id":"ENSG00000134827"}},"GRch38":{"90":{"location":"11:59852800-59866575","ensembl_id":"ENSG00000134827"}}},"hgnc_date_symbol_changed":"1990-06-11"},"entity_type":"gene","entity_name":"TCN1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["19686235"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["transcobalamin I deficiency MONDO:0008659"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4257,"hash_id":null,"name":"Vitamin metabolism disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"The gene panel contains genes that cause inborn errors of vitamin metabolism.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.7","version_created":"2024-09-18T09:35:00.495806+10:00","relevant_disorders":["Abnormality of vitamin metabolism","HP:0100508"],"stats":{"number_of_genes":62,"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":["MIS"],"biotype":"protein_coding","hgnc_id":"HGNC:464","gene_name":"anti-Mullerian hormone","omim_gene":["600957"],"alias_name":null,"gene_symbol":"AMH","hgnc_symbol":"AMH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:2249308-2252072","ensembl_id":"ENSG00000104899"}},"GRch38":{"90":{"location":"19:2249309-2252073","ensembl_id":"ENSG00000104899"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"AMH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["2023927","1483695","11760020","39889328","35052499"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Persistent Mullerian duct syndrome, type I, MIM# 261550"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PKACa"],"biotype":"protein_coding","hgnc_id":"HGNC:9380","gene_name":"protein kinase cAMP-activated catalytic subunit alpha","omim_gene":["601639"],"alias_name":null,"gene_symbol":"PRKACA","hgnc_symbol":"PRKACA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:14202500-14228896","ensembl_id":"ENSG00000072062"}},"GRch38":{"90":{"location":"19:14091688-14118084","ensembl_id":"ENSG00000072062"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PRKACA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["24571724, 25924874, 40066253, 37988664, 39006359"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Pigmented nodular adrenocortical disease, primary, 4, MONDO:0014359"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4488,"hash_id":null,"name":"Primary nodular adrenocortical disease","disease_group":"Endocrine disorders; Cancer Predisposition","disease_sub_group":"Adrenal disorders","description":"This panel contains genes associated with primary pigmented nodular adrenocortical disease and ACTH-independent macronodular adrenal hyperplasia.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.","status":"public","version":"0.15","version_created":"2026-02-02T07:59:54.010712+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."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TEB4","MARCH-VI","RNF176"],"biotype":"protein_coding","hgnc_id":"HGNC:30550","gene_name":"membrane associated ring-CH-type finger 6","omim_gene":["613297"],"alias_name":null,"gene_symbol":"MARCH6","hgnc_symbol":"MARCH6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:10353815-10440500","ensembl_id":"ENSG00000145495"}},"GRch38":{"90":{"location":"5:10353703-10440388","ensembl_id":"ENSG00000145495"}}},"hgnc_date_symbol_changed":"2005-01-26"},"entity_type":"str","entity_name":"MARCHF6_FAME3_TTTCA","confidence_level":"3","penetrance":null,"publications":["31664039"],"evidence":["Literature","Expert Review Green","Expert Review Green","Literature"],"phenotypes":["Epilepsy, familial adult myoclonic, 3 MIM#613608"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"TTTCA","chromosome":"5","grch37_coordinates":[10356451,10356519],"grch38_coordinates":[10356347,10356411],"normal_repeats":0,"pathogenic_repeats":660,"tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":{"alias":["OPCA3","ADCAII"],"biotype":"protein_coding","hgnc_id":"HGNC:10560","gene_name":"ataxin 7","omim_gene":["607640"],"alias_name":null,"gene_symbol":"ATXN7","hgnc_symbol":"ATXN7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:63850233-63989138","ensembl_id":"ENSG00000163635"}},"GRch38":{"90":{"location":"3:63864557-64003462","ensembl_id":"ENSG00000163635"}}},"hgnc_date_symbol_changed":"2004-08-12"},"entity_type":"str","entity_name":"ATXN7_SCA7_CAG","confidence_level":"3","penetrance":null,"publications":["8908515","29325606","20301433"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spinocerebellar ataxia 7 MIM#164500"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CAG","chromosome":"3","grch37_coordinates":[63898362,63898391],"grch38_coordinates":[63912686,63912715],"normal_repeats":27,"pathogenic_repeats":37,"tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.256","version_created":"2026-03-31T19:05:29.271183+11:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":138,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]}}]}