{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=313","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=311","results":[{"gene_data":{"alias":["TPR2"],"biotype":"protein_coding","hgnc_id":"HGNC:12392","gene_name":"DnaJ heat shock protein family (Hsp40) member C7","omim_gene":["601964"],"alias_name":null,"gene_symbol":"DNAJC7","hgnc_symbol":"DNAJC7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40128451-40173394","ensembl_id":"ENSG00000168259"}},"GRch38":{"90":{"location":"17:41976433-42021376","ensembl_id":"ENSG00000168259"}}},"hgnc_date_symbol_changed":"1997-12-12"},"entity_type":"gene","entity_name":"DNAJC7","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["31768050","40802071","35039179","34233860","32897108","37870677","35456894"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["amyotrophic lateral sclerosis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":25,"hash_id":null,"name":"Motor Neurone Disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"1.48","version_created":"2026-03-31T16:37:58.241144+11:00","relevant_disorders":[],"stats":{"number_of_genes":79,"number_of_strs":4,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CAR","SPG5C"],"biotype":"protein_coding","hgnc_id":"HGNC:11237","gene_name":"SPG7, paraplegin matrix AAA peptidase subunit","omim_gene":["602783"],"alias_name":["paraplegin"],"gene_symbol":"SPG7","hgnc_symbol":"SPG7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:89557325-89624176","ensembl_id":"ENSG00000197912"}},"GRch38":{"90":{"location":"16:89490917-89557768","ensembl_id":"ENSG00000197912"}}},"hgnc_date_symbol_changed":"1998-06-25"},"entity_type":"gene","entity_name":"SPG7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31433872"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spastic paraplegia 7, autosomal recessive, MIM#\t607259","Ataxia","Progressive external opthalmoplegia","Parkinsonism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":26,"hash_id":null,"name":"Early-onset Parkinson disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"2.51","version_created":"2026-03-30T11:47:22.375379+11:00","relevant_disorders":["Abnormality of extrapyramidal motor function","HP:0002071"],"stats":{"number_of_genes":129,"number_of_strs":14,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ21439"],"biotype":"protein_coding","hgnc_id":"HGNC:11226","gene_name":"SPG11, spatacsin vesicle trafficking associated","omim_gene":["610844"],"alias_name":["spatacsin"],"gene_symbol":"SPG11","hgnc_symbol":"SPG11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:44854894-44955876","ensembl_id":"ENSG00000104133"}},"GRch38":{"90":{"location":"15:44562696-44663678","ensembl_id":"ENSG00000104133"}}},"hgnc_date_symbol_changed":"1999-10-08"},"entity_type":"gene","entity_name":"SPG11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["35036589","23121729","21381113","27217339"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["hereditary spastic paraplegia 11 MONDO:0011445"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":26,"hash_id":null,"name":"Early-onset Parkinson disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"2.51","version_created":"2026-03-30T11:47:22.375379+11:00","relevant_disorders":["Abnormality of extrapyramidal motor function","HP:0002071"],"stats":{"number_of_genes":129,"number_of_strs":14,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MFH-1"],"biotype":"protein_coding","hgnc_id":"HGNC:3801","gene_name":"forkhead box C2","omim_gene":["602402"],"alias_name":["mesenchyme forkhead 1"],"gene_symbol":"FOXC2","hgnc_symbol":"FOXC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:86600857-86602539","ensembl_id":"ENSG00000176692"}},"GRch38":{"90":{"location":"16:86567251-86569728","ensembl_id":"ENSG00000176692"}}},"hgnc_date_symbol_changed":"1997-02-14"},"entity_type":"gene","entity_name":"FOXC2","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["12766066","21730847"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Lymphedema-distichiasis syndrome 153400"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":43,"hash_id":null,"name":"Eye Anterior Segment Abnormalities","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nAnterior segment dysgeneses are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. Clinical features include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface.\r\n\r\nAnterior segment dysgenesis can occur in isolation or as part of a more complex eye malformation or syndromic disorder. Also consider applying the Anophthalmia_Microphthalmia_Coloboma and Cataracts panels as indicated.","status":"public","version":"1.21","version_created":"2026-04-07T13:50:26.927276+10:00","relevant_disorders":["Abnormal anterior eye segment morphology","HP:0004328"],"stats":{"number_of_genes":29,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PEBP2A2","AMLCR1"],"biotype":"protein_coding","hgnc_id":"HGNC:10471","gene_name":"runt related transcription factor 1","omim_gene":["151385"],"alias_name":["aml1 oncogene"],"gene_symbol":"RUNX1","hgnc_symbol":"RUNX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:36160098-37376965","ensembl_id":"ENSG00000159216"}},"GRch38":{"90":{"location":"21:34787801-36004667","ensembl_id":"ENSG00000159216"}}},"hgnc_date_symbol_changed":"1991-08-20"},"entity_type":"gene","entity_name":"RUNX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10508512","11830488"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":56,"hash_id":null,"name":"Bone Marrow Failure","disease_group":"Haematological disorders","disease_sub_group":"","description":"Bone marrow failure (BMF) refers to the decreased production of one or more major haematopoietic lineages which leads to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.","status":"public","version":"1.141","version_created":"2026-03-17T18:48:23.244194+11:00","relevant_disorders":["Abnormality of multiple cell lineages of the bone marrow","HP:0012145"],"stats":{"number_of_genes":151,"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":["HK33","D1S2223E","PMP1","PMPI","PXMP1"],"biotype":"protein_coding","hgnc_id":"HGNC:9713","gene_name":"peroxisomal biogenesis factor 19","omim_gene":["600279"],"alias_name":["housekeeping gene, 33kD"],"gene_symbol":"PEX19","hgnc_symbol":"PEX19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:160246602-160256138","ensembl_id":"ENSG00000162735"}},"GRch38":{"90":{"location":"1:160276812-160286348","ensembl_id":"ENSG00000162735"}}},"hgnc_date_symbol_changed":"2004-03-19"},"entity_type":"gene","entity_name":"PEX19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886"],"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":null},{"gene_data":{"alias":["FLJ40908"],"biotype":"protein_coding","hgnc_id":"HGNC:20842","gene_name":"forkhead box P4","omim_gene":["608924"],"alias_name":null,"gene_symbol":"FOXP4","hgnc_symbol":"FOXP4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:41514164-41570122","ensembl_id":"ENSG00000137166"}},"GRch38":{"90":{"location":"6:41546426-41602384","ensembl_id":"ENSG00000137166"}}},"hgnc_date_symbol_changed":"2003-05-28"},"entity_type":"gene","entity_name":"FOXP4","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33110267"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder","multiple congenital abnormalities"],"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":["ATV","AT-V2","AT-V1"],"biotype":"protein_coding","hgnc_id":"HGNC:7652","gene_name":"nibrin","omim_gene":["602667"],"alias_name":null,"gene_symbol":"NBN","hgnc_symbol":"NBN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:90945564-91015456","ensembl_id":"ENSG00000104320"}},"GRch38":{"90":{"location":"8:89933336-90003228","ensembl_id":"ENSG00000104320"}}},"hgnc_date_symbol_changed":"2005-06-02"},"entity_type":"gene","entity_name":"NBN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33488600","33082212"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Nijmegen breakage syndrome, MIM# 251260","MONDO:0009623"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:8931","gene_name":"phosphorylase kinase catalytic subunit gamma 2","omim_gene":["172471"],"alias_name":null,"gene_symbol":"PHKG2","hgnc_symbol":"PHKG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:30759591-30772490","ensembl_id":"ENSG00000156873"}},"GRch38":{"90":{"location":"16:30748270-30761176","ensembl_id":"ENSG00000156873"}}},"hgnc_date_symbol_changed":"1993-06-18"},"entity_type":"gene","entity_name":"PHKG2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8896567","9384616","10905889"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Glycogen storage disease IXc, MIM# 613027"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":106,"hash_id":null,"name":"Glycogen Storage Diseases","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).","status":"public","version":"1.4","version_created":"2025-11-21T17:00:56.134684+11:00","relevant_disorders":["Abnormal hepatic glycogen storage","HP:0500030; Abnormal muscle glycogen content","HP:0012269; Visceromegaly","HP:0003271;Hypoglycemia","HP:0001943"],"stats":{"number_of_genes":29,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FHM2"],"biotype":"protein_coding","hgnc_id":"HGNC:800","gene_name":"ATPase Na+/K+ transporting subunit alpha 2","omim_gene":["182340"],"alias_name":["sodium/potassium-transporting ATPase subunit alpha-2","sodium pump subunit alpha-2","sodium-potassium ATPase catalytic subunit alpha-2"],"gene_symbol":"ATP1A2","hgnc_symbol":"ATP1A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:160085549-160113381","ensembl_id":"ENSG00000018625"}},"GRch38":{"90":{"location":"1:160115759-160143591","ensembl_id":"ENSG00000018625"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"ATP1A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30690204","31608932"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602","hydrops fetalis","microcephaly","arthrogryposis","extensive cortical malformations"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TC21"],"biotype":"protein_coding","hgnc_id":"HGNC:17271","gene_name":"RAS related 2","omim_gene":["600098"],"alias_name":null,"gene_symbol":"RRAS2","hgnc_symbol":"RRAS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:14299472-14386052","ensembl_id":"ENSG00000133818"}},"GRch38":{"90":{"location":"11:14277926-14364506","ensembl_id":"ENSG00000133818"}}},"hgnc_date_symbol_changed":"2001-11-30"},"entity_type":"gene","entity_name":"RRAS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33686258","31130282"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Noonan syndrome 12 OMIM #618624"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9958","gene_name":"renin","omim_gene":["179820"],"alias_name":null,"gene_symbol":"REN","hgnc_symbol":"REN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:204123944-204135465","ensembl_id":"ENSG00000143839"}},"GRch38":{"90":{"location":"1:204154819-204190324","ensembl_id":"ENSG00000143839"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"REN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16116425","31586593","31406136","28701203","21473025"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Renal tubular dysgenesis, MIM# 267430","Autosomal dominant tubulointerstitial disease"],"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":null},{"gene_data":{"alias":["DXS9928E","XAP5","HXC-26","9F"],"biotype":"protein_coding","hgnc_id":"HGNC:18786","gene_name":"family with sequence similarity 50 member A","omim_gene":["300453"],"alias_name":["DNA segment on chromosome X (unique) 9928 expressed sequence"],"gene_symbol":"FAM50A","hgnc_symbol":"FAM50A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153672473-153679002","ensembl_id":"ENSG00000071859"}},"GRch38":{"90":{"location":"X:154444126-154450654","ensembl_id":"ENSG00000071859"}}},"hgnc_date_symbol_changed":"2004-10-06"},"entity_type":"gene","entity_name":"FAM50A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32703943"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Mental retardation syndrome, X-linked, Armfield type (MIM #300261)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:10002","gene_name":"regulator of G protein signaling 6","omim_gene":["603894"],"alias_name":null,"gene_symbol":"RGS6","hgnc_symbol":"RGS6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:72399156-73030654","ensembl_id":"ENSG00000182732"}},"GRch38":{"90":{"location":"14:71932439-72566529","ensembl_id":"ENSG00000182732"}}},"hgnc_date_symbol_changed":"1999-05-17"},"entity_type":"gene","entity_name":"RGS6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["38332109","25525169"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, RGS6-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ANG2","ANG3","FFR"],"biotype":"protein_coding","hgnc_id":"HGNC:1172","gene_name":"VPS51, GARP complex subunit","omim_gene":["615738"],"alias_name":["fat-free homolog (zebrafish)"],"gene_symbol":"VPS51","hgnc_symbol":"VPS51","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:64856796-64879332","ensembl_id":"ENSG00000149823"}},"GRch38":{"90":{"location":"11:65089324-65111860","ensembl_id":"ENSG00000149823"}}},"hgnc_date_symbol_changed":"2012-07-19"},"entity_type":"gene","entity_name":"VPS51","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40565173","30624672","31207318","40176246"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Pontocerebellar hypoplasia, type 13, MIM#\t618606"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TC-25","p21-Rac1","Rac-1"],"biotype":"protein_coding","hgnc_id":"HGNC:9801","gene_name":"Rac family small GTPase 1","omim_gene":["602048"],"alias_name":null,"gene_symbol":"RAC1","hgnc_symbol":"RAC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:6414154-6443608","ensembl_id":"ENSG00000136238"}},"GRch38":{"90":{"location":"7:6374523-6403977","ensembl_id":"ENSG00000136238"}}},"hgnc_date_symbol_changed":"1993-11-05"},"entity_type":"gene","entity_name":"RAC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30042656","29276006","30293988","35139179"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Intellectual developmental disorder, autosomal dominant 48 MIM#617751"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CGI-63","NRBF1","FASN2B","ETR1"],"biotype":"protein_coding","hgnc_id":"HGNC:19691","gene_name":"mitochondrial trans-2-enoyl-CoA reductase","omim_gene":["608205"],"alias_name":["nuclear receptor binding factor 1","mitochondrial 2-enoyl thioester reductase"],"gene_symbol":"MECR","hgnc_symbol":"MECR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:29519385-29557454","ensembl_id":"ENSG00000116353"}},"GRch38":{"90":{"location":"1:29192873-29230942","ensembl_id":"ENSG00000116353"}}},"hgnc_date_symbol_changed":"2005-05-24"},"entity_type":"gene","entity_name":"MECR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27817865","31137067"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Optic atrophy 16, MIM# 620629"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":149,"hash_id":null,"name":"Optic Atrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH and contains genes associated with isolated and complex optic atrophy.","status":"public","version":"1.72","version_created":"2026-03-31T18:57:17.873049+11:00","relevant_disorders":["Optic atrophy","HP:0000648"],"stats":{"number_of_genes":80,"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":["FLJ21816","FANCN"],"biotype":"protein_coding","hgnc_id":"HGNC:26144","gene_name":"partner and localizer of BRCA2","omim_gene":["610355"],"alias_name":["Fanconi anemia, complementation group N"],"gene_symbol":"PALB2","hgnc_symbol":"PALB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:23614488-23652631","ensembl_id":"ENSG00000083093"}},"GRch38":{"90":{"location":"16:23603160-23641310","ensembl_id":"ENSG00000083093"}}},"hgnc_date_symbol_changed":"2007-01-15"},"entity_type":"gene","entity_name":"PALB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anaemia, complementation group N, MIM# 610832"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":163,"hash_id":null,"name":"Radial Ray Abnormalities","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 'Radial Dysplasia' panel and all differences have been resolved, with reciprocal feedback provided to Genomics England.","status":"public","version":"1.21","version_created":"2026-01-15T11:51:47.687282+11:00","relevant_disorders":["Abnormality of radial ray","HP:0410049"],"stats":{"number_of_genes":62,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ13231","JBTS17","Hug"],"biotype":"protein_coding","hgnc_id":"HGNC:25801","gene_name":"chromosome 5 open reading frame 42","omim_gene":["614571"],"alias_name":null,"gene_symbol":"C5orf42","hgnc_symbol":"C5orf42","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:37106330-37249530","ensembl_id":"ENSG00000197603"}},"GRch38":{"90":{"location":"5:37106228-37249428","ensembl_id":"ENSG00000197603"}}},"hgnc_date_symbol_changed":"2007-12-13"},"entity_type":"gene","entity_name":"C5orf42","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","KidGen_CilioNephronop v38.1.0"],"phenotypes":["Joubert syndrome 17, MIM#614615","Orofaciodigital syndrome VI, MIM# 277170"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":193,"hash_id":null,"name":"Renal Ciliopathies and Nephronophthisis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen","status":"public","version":"1.53","version_created":"2026-03-19T17:14:29.802874+11:00","relevant_disorders":["Abnormality of renal medullary morphology","HP:0025361; Renal cyst","HP:0000107"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CGTHBA","RMD11","NPR3","MARE","HS-40"],"biotype":"protein_coding","hgnc_id":"HGNC:14124","gene_name":"NPR3 like, GATOR1 complex subunit","omim_gene":["600928"],"alias_name":["conserved gene telomeric to alpha globin cluster"],"gene_symbol":"NPRL3","hgnc_symbol":"NPRL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:134273-188859","ensembl_id":"ENSG00000103148"}},"GRch38":{"90":{"location":"16:84271-138860","ensembl_id":"ENSG00000103148"}}},"hgnc_date_symbol_changed":"2010-03-30"},"entity_type":"gene","entity_name":"NPRL3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27173016","26285051","33461085"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Epilepsy, familial focal, with variable foci 3- MIM#617118"],"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":["PDJ","AR-JP","parkin"],"biotype":"protein_coding","hgnc_id":"HGNC:8607","gene_name":"parkin RBR E3 ubiquitin protein ligase","omim_gene":["602544"],"alias_name":["E3 ubiquitin ligase"],"gene_symbol":"PRKN","hgnc_symbol":"PRKN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:161768452-163148803","ensembl_id":"ENSG00000185345"}},"GRch38":{"90":{"location":"6:161347420-162727771","ensembl_id":"ENSG00000185345"}}},"hgnc_date_symbol_changed":"2017-02-20"},"entity_type":"gene","entity_name":"PRKN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29884839","38069350"],"evidence":["Expert Review Green"],"phenotypes":["Disorders of mitochondrial protein quality control","Parkinson disease MONDO:0005180"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TRM5"],"biotype":"protein_coding","hgnc_id":"HGNC:23141","gene_name":"tRNA methyltransferase 5","omim_gene":["611023"],"alias_name":["tRNA (guanine(37)-N1)-methyltransferase"],"gene_symbol":"TRMT5","hgnc_symbol":"TRMT5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:61438169-61448076","ensembl_id":"ENSG00000126814"}},"GRch38":{"90":{"location":"14:60971451-60981358","ensembl_id":"ENSG00000126814"}}},"hgnc_date_symbol_changed":"2005-08-11"},"entity_type":"gene","entity_name":"TRMT5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26189817","35342985","35109800","29021354"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Combined oxidative phosphorylation deficiency 26, MIM# 616539"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DC47","MRP-S36"],"biotype":"protein_coding","hgnc_id":"HGNC:16631","gene_name":"mitochondrial ribosomal protein S36","omim_gene":["611996"],"alias_name":null,"gene_symbol":"MRPS36","hgnc_symbol":"MRPS36","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:68513587-68525956","ensembl_id":"ENSG00000134056"}},"GRch38":{"90":{"location":"5:69217760-69230129","ensembl_id":"ENSG00000134056"}}},"hgnc_date_symbol_changed":"2001-09-20"},"entity_type":"gene","entity_name":"MRPS36","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 41018056","38685873"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:15508","gene_name":"pseudouridylate synthase 1","omim_gene":["608109"],"alias_name":["tRNA pseudouridine(38-40) synthase"],"gene_symbol":"PUS1","hgnc_symbol":"PUS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:132413745-132428406","ensembl_id":"ENSG00000177192"}},"GRch38":{"90":{"location":"12:131929200-131945896","ensembl_id":"ENSG00000177192"}}},"hgnc_date_symbol_changed":"2001-04-06"},"entity_type":"gene","entity_name":"PUS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25227147","17056637","15108122","32287105","31641589","28832011"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LGMD2N"],"biotype":"protein_coding","hgnc_id":"HGNC:19743","gene_name":"protein O-mannosyltransferase 2","omim_gene":["607439"],"alias_name":["Dolichyl-phosphate-mannose--protein mannosyltransferase"],"gene_symbol":"POMT2","hgnc_symbol":"POMT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:77741299-77787227","ensembl_id":"ENSG00000009830"}},"GRch38":{"90":{"location":"14:77274956-77320884","ensembl_id":"ENSG00000009830"}}},"hgnc_date_symbol_changed":"2003-01-17"},"entity_type":"gene","entity_name":"POMT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9498","gene_name":"prosaposin","omim_gene":["176801"],"alias_name":["variant Gaucher disease and variant metachromatic 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regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10514"],"biotype":"protein_coding","hgnc_id":"HGNC:25538","gene_name":"aspartyl-tRNA synthetase 2, mitochondrial","omim_gene":["610956"],"alias_name":["aspartate tRNA ligase 2, 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23521649, 23365052, 21532572, 27602171, 25033457, 31984424"],"evidence":["Literature","ClinGen","Expert Review Green"],"phenotypes":["Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AC1"],"biotype":"protein_coding","hgnc_id":"HGNC:232","gene_name":"adenylate cyclase 1","omim_gene":["103072"],"alias_name":null,"gene_symbol":"ADCY1","hgnc_symbol":"ADCY1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:45613739-45762715","ensembl_id":"ENSG00000164742"}},"GRch38":{"90":{"location":"7:45574140-45723116","ensembl_id":"ENSG00000164742"}}},"hgnc_date_symbol_changed":"1992-12-02"},"entity_type":"gene","entity_name":"ADCY1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24482543"],"evidence":["Expert Review Red","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal recessive 44, MIM# 610154"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Munc13-4"],"biotype":"protein_coding","hgnc_id":"HGNC:23147","gene_name":"unc-13 homolog D","omim_gene":["608897"],"alias_name":null,"gene_symbol":"UNC13D","hgnc_symbol":"UNC13D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:73823306-73840798","ensembl_id":"ENSG00000092929"}},"GRch38":{"90":{"location":"17:75827225-75844717","ensembl_id":"ENSG00000092929"}}},"hgnc_date_symbol_changed":"2003-10-16"},"entity_type":"gene","entity_name":"UNC13D","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14622600","16825436","17993578"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.43","version_created":"2026-04-06T13:01:39.255117+10:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":118,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RPC1","RPC155","hRPC155"],"biotype":"protein_coding","hgnc_id":"HGNC:30074","gene_name":"RNA polymerase III subunit A","omim_gene":["614258"],"alias_name":null,"gene_symbol":"POLR3A","hgnc_symbol":"POLR3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:79734907-79789303","ensembl_id":"ENSG00000148606"}},"GRch38":{"90":{"location":"10:77969251-78029545","ensembl_id":"ENSG00000148606"}}},"hgnc_date_symbol_changed":"2004-09-16"},"entity_type":"gene","entity_name":"POLR3A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["28783042","29728610"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Severe VZV infection"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":237,"hash_id":null,"name":"Susceptibility to Viral Infections","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital). 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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":null},{"gene_data":{"alias":["KIAA0243","LAM","hamartin"],"biotype":"protein_coding","hgnc_id":"HGNC:12362","gene_name":"TSC complex subunit 1","omim_gene":["605284"],"alias_name":["hamartin"],"gene_symbol":"TSC1","hgnc_symbol":"TSC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:135766735-135820020","ensembl_id":"ENSG00000165699"}},"GRch38":{"90":{"location":"9:132891348-132944633","ensembl_id":"ENSG00000165699"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"TSC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Tuberous sclerosis-1 191100","Lymphangioleiomyomatosis 606690","Focal cortical dysplasia, type II, somatic 607341"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3098,"hash_id":null,"name":"Lymphoedema","disease_group":"Cardiovascular disorders","disease_sub_group":"Lymphatic Disorders","description":"The panel contains genes associated with nonsyndromic and syndromic lymphoedema.","status":"public","version":"0.32","version_created":"2026-02-06T22:04:55.315713+11:00","relevant_disorders":["Lymphedema","HP:0001004"],"stats":{"number_of_genes":59,"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":["GRCC10","C10"],"biotype":"protein_coding","hgnc_id":"HGNC:29521","gene_name":"chromosome 12 open reading frame 57","omim_gene":["615140"],"alias_name":["gene rich cluster C10 gene"],"gene_symbol":"C12orf57","hgnc_symbol":"C12orf57","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:7052141-7055166","ensembl_id":"ENSG00000111678"}},"GRch38":{"90":{"location":"12:6942978-6946003","ensembl_id":"ENSG00000111678"}}},"hgnc_date_symbol_changed":"2006-01-27"},"entity_type":"gene","entity_name":"C12orf57","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Temtamy syndrome, 218340 (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":["FLJ10335","FAAP43","Pog"],"biotype":"protein_coding","hgnc_id":"HGNC:20748","gene_name":"Fanconi anemia complementation group L","omim_gene":["608111"],"alias_name":null,"gene_symbol":"FANCL","hgnc_symbol":"FANCL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:58386378-58468507","ensembl_id":"ENSG00000115392"}},"GRch38":{"90":{"location":"2:58159243-58241372","ensembl_id":"ENSG00000115392"}}},"hgnc_date_symbol_changed":"2003-10-15"},"entity_type":"gene","entity_name":"FANCL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Fanconi anemia, complementation group L, 614083 (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":["KIAA0990","CSS1"],"biotype":"protein_coding","hgnc_id":"HGNC:17198","gene_name":"chondroitin sulfate synthase 1","omim_gene":["608183"],"alias_name":null,"gene_symbol":"CHSY1","hgnc_symbol":"CHSY1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:101715928-101792137","ensembl_id":"ENSG00000131873"}},"GRch38":{"90":{"location":"15:101175723-101251932","ensembl_id":"ENSG00000131873"}}},"hgnc_date_symbol_changed":"2008-01-24"},"entity_type":"gene","entity_name":"CHSY1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Temtamy preaxial brachydactyly syndrome, 605282 (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":["CI-13kA"],"biotype":"protein_coding","hgnc_id":"HGNC:7713","gene_name":"NADH:ubiquinone oxidoreductase subunit S6","omim_gene":["603848"],"alias_name":["complex I 13kDa subunit A","NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial"],"gene_symbol":"NDUFS6","hgnc_symbol":"NDUFS6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1801514-1816719","ensembl_id":"ENSG00000145494"}},"GRch38":{"90":{"location":"5:1801400-1816605","ensembl_id":"ENSG00000145494"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"NDUFS6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mitochondrial complex I deficiency, 252010 (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":["dj747L4.1","TPIT"],"biotype":"protein_coding","hgnc_id":"HGNC:11596","gene_name":"T-box 19","omim_gene":["604614"],"alias_name":["TBS 19"],"gene_symbol":"TBX19","hgnc_symbol":"TBX19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:168250278-168283664","ensembl_id":"ENSG00000143178"}},"GRch38":{"90":{"location":"1:168281040-168314426","ensembl_id":"ENSG00000143178"}}},"hgnc_date_symbol_changed":"1999-02-01"},"entity_type":"gene","entity_name":"TBX19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15613420, 31998673, 11290323, 15476446, 22170728"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Adrenocorticotropic hormone deficiency, 201400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3236,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.208","version_created":"2026-04-02T15:15:10.893013+11:00","relevant_disorders":["Hypopituitarism","HP:0040075"],"stats":{"number_of_genes":118,"number_of_strs":1,"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":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7526","gene_name":"methylmalonyl-CoA mutase","omim_gene":["609058"],"alias_name":null,"gene_symbol":"MUT","hgnc_symbol":"MUT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:49398073-49430904","ensembl_id":"ENSG00000146085"}},"GRch38":{"90":{"location":"6:49430360-49463191","ensembl_id":"ENSG00000146085"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MUT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","MetBioNet","South West GLH","NHS GMS"],"phenotypes":["Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap","Methylmalonic aciduria","Methylmalonic aciduria, mut(0) type 251000","DCM","Methylmalonyl-CoA mutase deficiency  (Organic acidurias)","Hypertrophic-hypocontractile cardiomyopathy","metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections."],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"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":["SCARB3","GPIV","FAT","GP4","GP3B"],"biotype":"protein_coding","hgnc_id":"HGNC:1663","gene_name":"CD36 molecule","omim_gene":["173510"],"alias_name":null,"gene_symbol":"CD36","hgnc_symbol":"CD36","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:79998891-80308593","ensembl_id":"ENSG00000135218"}},"GRch38":{"90":{"location":"7:80369575-80679277","ensembl_id":"ENSG00000135218"}}},"hgnc_date_symbol_changed":"1993-06-04"},"entity_type":"gene","entity_name":"CD36","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Platelet glycoprotein IV deficiency"],"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":["KIAA0605"],"biotype":"protein_coding","hgnc_id":"HGNC:14631","gene_name":"ADAMTS like 2","omim_gene":["612277"],"alias_name":null,"gene_symbol":"ADAMTSL2","hgnc_symbol":"ADAMTSL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:136397286-136440641","ensembl_id":"ENSG00000197859"}},"GRch38":{"90":{"location":"9:133532164-133575519","ensembl_id":"ENSG00000197859"}}},"hgnc_date_symbol_changed":"2005-01-12"},"entity_type":"gene","entity_name":"ADAMTSL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Geleophysic dysplasia 1"],"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":["CAM"],"biotype":"protein_coding","hgnc_id":"HGNC:1573","gene_name":"KRIT1, ankyrin repeat containing","omim_gene":["604214"],"alias_name":null,"gene_symbol":"KRIT1","hgnc_symbol":"KRIT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:91828283-91875480","ensembl_id":"ENSG00000001631"}},"GRch38":{"90":{"location":"7:92198969-92246166","ensembl_id":"ENSG00000001631"}}},"hgnc_date_symbol_changed":"2005-03-17"},"entity_type":"gene","entity_name":"KRIT1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 30061145, 20301470, 27561926"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Cerebral cavernous malformations-1 MIM# 116860"],"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":["HBGF-3"],"biotype":"protein_coding","hgnc_id":"HGNC:3681","gene_name":"fibroblast growth factor 3","omim_gene":["164950"],"alias_name":["INT-2 proto-oncogene protein","oncogene INT2","V-INT2 murine mammary tumor virus integration site oncogene homolog","murine mammary tumor virus integration site 2, mouse"],"gene_symbol":"FGF3","hgnc_symbol":"FGF3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:69624992-69633792","ensembl_id":"ENSG00000186895"}},"GRch38":{"90":{"location":"11:69810224-69819024","ensembl_id":"ENSG00000186895"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"FGF3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Deafness, congenital with inner ear agenesis, microtia, and microdontia"],"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:6649","gene_name":"leiomodin 3","omim_gene":["616112"],"alias_name":null,"gene_symbol":"LMOD3","hgnc_symbol":"LMOD3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:69156023-69172183","ensembl_id":"ENSG00000163380"}},"GRch38":{"90":{"location":"3:69106872-69123032","ensembl_id":"ENSG00000163380"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"LMOD3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Nemaline myopathy"],"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":["Kv7.4"],"biotype":"protein_coding","hgnc_id":"HGNC:6298","gene_name":"potassium voltage-gated channel subfamily Q member 4","omim_gene":["603537"],"alias_name":null,"gene_symbol":"KCNQ4","hgnc_symbol":"KCNQ4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:41249684-41306124","ensembl_id":"ENSG00000117013"}},"GRch38":{"90":{"location":"1:40784012-40840452","ensembl_id":"ENSG00000117013"}}},"hgnc_date_symbol_changed":"1999-02-05"},"entity_type":"gene","entity_name":"KCNQ4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Deafness, autosomal dominant"],"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":[],"biotype":null,"hgnc_id":"HGNC:20449","gene_name":"peptidyl arginine deiminase 6","omim_gene":["610363"],"alias_name":null,"gene_symbol":"PADI6","hgnc_symbol":"PADI6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:17698691-17728195","ensembl_id":"ENSG00000256049"}},"GRch38":{"90":{"location":"1:17372196-17401699","ensembl_id":"ENSG00000276747"}}},"hgnc_date_symbol_changed":"2003-05-22"},"entity_type":"gene","entity_name":"PADI6","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["33221824","32928291","29574422"],"evidence":["Expert Review Amber","Genomics England PanelApp"],"phenotypes":["IUGR"],"mode_of_inheritance":"Other","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":["Spred-2","FLJ21897","FLJ31917"],"biotype":"protein_coding","hgnc_id":"HGNC:17722","gene_name":"sprouty related EVH1 domain containing 2","omim_gene":["609292"],"alias_name":null,"gene_symbol":"SPRED2","hgnc_symbol":"SPRED2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:65537985-65659771","ensembl_id":"ENSG00000198369"}},"GRch38":{"90":{"location":"2:65310851-65432637","ensembl_id":"ENSG00000198369"}}},"hgnc_date_symbol_changed":"2003-06-02"},"entity_type":"gene","entity_name":"SPRED2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 34626534"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Noonan syndrome 14, MIM# 619745"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:19957","gene_name":"tectonin beta-propeller repeat containing 2","omim_gene":["615000"],"alias_name":null,"gene_symbol":"TECPR2","hgnc_symbol":"TECPR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:102829300-102968818","ensembl_id":"ENSG00000196663"}},"GRch38":{"90":{"location":"14:102362963-102502481","ensembl_id":"ENSG00000196663"}}},"hgnc_date_symbol_changed":"2009-02-27"},"entity_type":"gene","entity_name":"TECPR2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["23176824","26542466"],"evidence":["Expert Review Amber","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Spastic paraplegia 49, autosomal recessive, 615031","Autonomic-sensory neuropathy","Intellectual disability"],"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":["LGMD2M"],"biotype":"protein_coding","hgnc_id":"HGNC:3622","gene_name":"fukutin","omim_gene":["607440"],"alias_name":null,"gene_symbol":"FKTN","hgnc_symbol":"FKTN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:108320411-108403399","ensembl_id":"ENSG00000106692"}},"GRch38":{"90":{"location":"9:105558130-105641118","ensembl_id":"ENSG00000106692"}}},"hgnc_date_symbol_changed":"2007-11-21"},"entity_type":"gene","entity_name":"FKTN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18177472","17878207"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:4065","gene_name":"glucosidase alpha, acid","omim_gene":["606800"],"alias_name":["Pompe disease","glycogen storage disease type II"],"gene_symbol":"GAA","hgnc_symbol":"GAA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:78075355-78093678","ensembl_id":"ENSG00000171298"}},"GRch38":{"90":{"location":"17:80101556-80119879","ensembl_id":"ENSG00000171298"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GAA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Glycogen storage disease II MIM#232300"],"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":["BR140"],"biotype":"protein_coding","hgnc_id":"HGNC:14255","gene_name":"bromodomain and PHD finger containing 1","omim_gene":["602410"],"alias_name":["peregrin","bromodomain-containing protein, 140kD"],"gene_symbol":"BRPF1","hgnc_symbol":"BRPF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:9773413-9789702","ensembl_id":"ENSG00000156983"}},"GRch38":{"90":{"location":"3:9731729-9748018","ensembl_id":"ENSG00000156983"}}},"hgnc_date_symbol_changed":"2000-12-14"},"entity_type":"gene","entity_name":"BRPF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27939640","27939639","32652122"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333","MONDO:0015022"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. 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It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. 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It 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":["PHOX1"],"biotype":"protein_coding","hgnc_id":"HGNC:9142","gene_name":"paired related homeobox 1","omim_gene":["167420"],"alias_name":null,"gene_symbol":"PRRX1","hgnc_symbol":"PRRX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:170631869-170708560","ensembl_id":"ENSG00000116132"}},"GRch38":{"90":{"location":"1:170662728-170739419","ensembl_id":"ENSG00000116132"}}},"hgnc_date_symbol_changed":"2003-11-14"},"entity_type":"gene","entity_name":"PRRX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["21294718","22211708","22674740","23444262"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Agnathia-otocephaly complex, MIM# 202650"],"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":[]},{"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":["7912128","12815589","27081516","12706375","30626930"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Glutaric acidaemia IIB, MIM# 231680"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. 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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":["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":["26418456","7704029","17376686","18382475","19487656","12196661","10619715"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Congenital myopathy 4B, autosomal recessive MIM#609284"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GTPCH1","DYT5a"],"biotype":"protein_coding","hgnc_id":"HGNC:4193","gene_name":"GTP cyclohydrolase 1","omim_gene":["600225"],"alias_name":["dopa-responsive dystonia"],"gene_symbol":"GCH1","hgnc_symbol":"GCH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:55308726-55369570","ensembl_id":"ENSG00000131979"}},"GRch38":{"90":{"location":"14:54842008-54902852","ensembl_id":"ENSG00000131979"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"GCH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["20301681, 9749603, 10582612, 11026444, 15303002"],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["GTP cyclohydrolase I deficiency MONDO:0100184"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3437","gene_name":"ERCC excision repair 5, endonuclease","omim_gene":["133530"],"alias_name":["Cockayne syndrome"],"gene_symbol":"ERCC5","hgnc_symbol":"ERCC5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:103497194-103528345","ensembl_id":"ENSG00000134899"}},"GRch38":{"90":{"location":"13:102844844-102876001","ensembl_id":"ENSG00000134899"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ERCC5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696","Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TNSALP"],"biotype":"protein_coding","hgnc_id":"HGNC:438","gene_name":"alkaline phosphatase, liver/bone/kidney","omim_gene":["171760"],"alias_name":null,"gene_symbol":"ALPL","hgnc_symbol":"ALPL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:21835858-21904905","ensembl_id":"ENSG00000162551"}},"GRch38":{"90":{"location":"1:21509372-21578412","ensembl_id":"ENSG00000162551"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ALPL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31413732","30811537"],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Hypophosphatasia, childhood OMIM#241510","Hypophosphatasia, infantile OMIM#241500"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","skeletal"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10817","FLJ10376","DKFZP434P1735","CILD23"],"biotype":"protein_coding","hgnc_id":"HGNC:25583","gene_name":"armadillo repeat containing 4","omim_gene":["615408"],"alias_name":null,"gene_symbol":"ARMC4","hgnc_symbol":"ARMC4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:28064115-28287977","ensembl_id":"ENSG00000169126"}},"GRch38":{"90":{"location":"10:27812164-27999048","ensembl_id":"ENSG00000169126"}}},"hgnc_date_symbol_changed":"2004-02-04"},"entity_type":"gene","entity_name":"ARMC4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Ciliary dyskinesia, primary, 23, MIM# 615451"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Uae1"],"biotype":"protein_coding","hgnc_id":"HGNC:23657","gene_name":"glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase","omim_gene":["603824"],"alias_name":["bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase"],"gene_symbol":"GNE","hgnc_symbol":"GNE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:36214438-36277053","ensembl_id":"ENSG00000159921"}},"GRch38":{"90":{"location":"9:36214441-36277056","ensembl_id":"ENSG00000159921"}}},"hgnc_date_symbol_changed":"2003-11-28"},"entity_type":"gene","entity_name":"GNE","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category A gene"],"phenotypes":["Nonaka myopathy, MIM# 605820"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["for review","neurological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Gsh4"],"biotype":"protein_coding","hgnc_id":"HGNC:21734","gene_name":"LIM homeobox 4","omim_gene":["602146"],"alias_name":null,"gene_symbol":"LHX4","hgnc_symbol":"LHX4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:180199421-180249380","ensembl_id":"ENSG00000121454"}},"GRch38":{"90":{"location":"1:180230286-180278982","ensembl_id":"ENSG00000121454"}}},"hgnc_date_symbol_changed":"2003-07-21"},"entity_type":"gene","entity_name":"LHX4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Pituitary hormone deficiency, combined, 4, MIM#\t262700"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LBP-9","CRTR1"],"biotype":"protein_coding","hgnc_id":"HGNC:17925","gene_name":"transcription factor CP2 like 1","omim_gene":["609785"],"alias_name":null,"gene_symbol":"TFCP2L1","hgnc_symbol":"TFCP2L1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:121974163-122042783","ensembl_id":"ENSG00000115112"}},"GRch38":{"90":{"location":"2:121216587-121285207","ensembl_id":"ENSG00000115112"}}},"hgnc_date_symbol_changed":"2004-01-05"},"entity_type":"gene","entity_name":"TFCP2L1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["40569305","33097957"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Inherited renal tubular disease, MONDO:0015962, TFGP2L1-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GALA"],"biotype":"protein_coding","hgnc_id":"HGNC:4296","gene_name":"galactosidase alpha","omim_gene":["300644"],"alias_name":null,"gene_symbol":"GLA","hgnc_symbol":"GLA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:100652791-100662913","ensembl_id":"ENSG00000102393"}},"GRch38":{"90":{"location":"X:101397803-101407925","ensembl_id":"ENSG00000102393"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"GLA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8878432","30681346","31613176"],"evidence":["Expert Review Green","KidGen_MetabolicRenal v38.1.0"],"phenotypes":["Fabry disease (MIM# 301500)"],"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":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MORT1","GIG3"],"biotype":"protein_coding","hgnc_id":"HGNC:3573","gene_name":"Fas associated via death domain","omim_gene":["602457"],"alias_name":["Fas-associating protein with death domain","Fas-associating death domain-containing protein","mediator of receptor-induced toxicity","growth-inhibiting gene 3 protein"],"gene_symbol":"FADD","hgnc_symbol":"FADD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:70049269-70053496","ensembl_id":"ENSG00000168040"}},"GRch38":{"90":{"location":"11:70203163-70207390","ensembl_id":"ENSG00000168040"}}},"hgnc_date_symbol_changed":"1999-05-07"},"entity_type":"gene","entity_name":"FADD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["21109225","25794656","32350755","32971525"],"evidence":["Expert Review Green","Literature"],"phenotypes":["FADD-related immunodeficiency MONDO:0013408"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4389,"hash_id":null,"name":"Autoimmune Lymphoproliferative Syndrome","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel has been compiled based on the following study:\r\n\r\nGenetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital Medical Center (PMID: 39060684)","status":"public","version":"1.12","version_created":"2026-02-26T20:52:40.847942+11:00","relevant_disorders":[],"stats":{"number_of_genes":20,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ25390"],"biotype":"protein_coding","hgnc_id":"HGNC:21099","gene_name":"armadillo repeat containing 12","omim_gene":null,"alias_name":null,"gene_symbol":"ARMC12","hgnc_symbol":"ARMC12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:35704809-35716856","ensembl_id":"ENSG00000157343"}},"GRch38":{"90":{"location":"6:35737032-35749079","ensembl_id":"ENSG00000157343"}}},"hgnc_date_symbol_changed":"2011-12-14"},"entity_type":"gene","entity_name":"ARMC12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35534203","33536340"],"evidence":["Literature","Expert Review Green","Expert Review Green","Literature"],"phenotypes":["spermatogenic failure MONDO:0004983"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["P450C11","FHI","CPN1"],"biotype":"protein_coding","hgnc_id":"HGNC:2591","gene_name":"cytochrome P450 family 11 subfamily B member 1","omim_gene":["610613"],"alias_name":["steroid 11-beta-monooxygenase"],"gene_symbol":"CYP11B1","hgnc_symbol":"CYP11B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:143953772-143961262","ensembl_id":"ENSG00000160882"}},"GRch38":{"90":{"location":"8:142872356-142879846","ensembl_id":"ENSG00000160882"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CYP11B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8768848"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":4522,"hash_id":null,"name":"Congenital adrenal hyperplasia","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","description":"This panel contains genes associated with congenital adrenal hyperplasia.\r\n\r\nFor a high suspicion of 21-hydroxylase deficiency CAH: \r\nrequest a specific assay of CYP21A2 gene which includes analysis of deletions, duplications, and gene conversions.","status":"public","version":"0.8","version_created":"2026-01-29T13:38:25.687384+11:00","relevant_disorders":[],"stats":{"number_of_genes":6,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null}]}