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If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BPTP3","SH-PTP2","SHP-2","PTP2C","SHP2"],"biotype":"protein_coding","hgnc_id":"HGNC:9644","gene_name":"protein tyrosine phosphatase, non-receptor type 11","omim_gene":["176876"],"alias_name":null,"gene_symbol":"PTPN11","hgnc_symbol":"PTPN11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:112856155-112947717","ensembl_id":"ENSG00000179295"}},"GRch38":{"90":{"location":"12:112418351-112509913","ensembl_id":"ENSG00000179295"}}},"hgnc_date_symbol_changed":"1993-03-03"},"entity_type":"gene","entity_name":"PTPN11","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33528536","23799168"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["LEOPARD syndrome 1 MIM#151100","Noonan syndrome MIM#163950"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FAA","FA-H","FAH"],"biotype":"protein_coding","hgnc_id":"HGNC:3582","gene_name":"Fanconi anemia complementation group A","omim_gene":["607139"],"alias_name":null,"gene_symbol":"FANCA","hgnc_symbol":"FANCA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:89803957-89883065","ensembl_id":"ENSG00000187741"}},"GRch38":{"90":{"location":"16:89737549-89816657","ensembl_id":"ENSG00000187741"}}},"hgnc_date_symbol_changed":"1995-12-22"},"entity_type":"gene","entity_name":"FANCA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10094191"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anaemia, complementation group A, MIM# 227650","MONDO:0009215"],"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":["BLU","CILD22"],"biotype":"protein_coding","hgnc_id":"HGNC:19412","gene_name":"zinc finger MYND-type containing 10","omim_gene":["607070"],"alias_name":null,"gene_symbol":"ZMYND10","hgnc_symbol":"ZMYND10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:50378541-50384283","ensembl_id":"ENSG00000004838"}},"GRch38":{"90":{"location":"3:50341110-50346852","ensembl_id":"ENSG00000004838"}}},"hgnc_date_symbol_changed":"2003-05-01"},"entity_type":"gene","entity_name":"ZMYND10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23891471","23891469"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 22, MIM#615444"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":82,"hash_id":null,"name":"Ciliary Dyskinesia","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.75","version_created":"2026-03-30T10:17:46.701193+11:00","relevant_disorders":["Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205"],"stats":{"number_of_genes":77,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7216","gene_name":"mannose phosphate isomerase","omim_gene":["154550"],"alias_name":["mannose-6-phosphate isomerase"],"gene_symbol":"MPI","hgnc_symbol":"MPI","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:75182346-75191798","ensembl_id":"ENSG00000178802"}},"GRch38":{"90":{"location":"15:74890005-74902219","ensembl_id":"ENSG00000178802"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MPI","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["12414827","9585601","10980531","33098580","33204592","32905087","32266963","30242110"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Congenital disorder of glycosylation, type Ib, MIM# 602579","MPI-CDG MONDO:0011257"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":89,"hash_id":null,"name":"Congenital Diarrhoea","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nCongenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. Severe chronic diarrhoea may be the main clinical manifestation or it may be a component of a more complex multi-organ or systemic disease.\r\n\r\nCDDs can be classified in four groups: (i) defects of digestion, absorption and transport of nutrients and electrolytes; (ii) defects of enterocyte differentiation and polarisation; (iii) defects of enteroendocrine cell differentiation; (iv) defects of modulation of intestinal immune response.","status":"public","version":"1.30","version_created":"2025-11-20T10:28:34.792243+11:00","relevant_disorders":["Diarrhea HP:0002014"],"stats":{"number_of_genes":46,"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":["MASS","OCTD","SGS"],"biotype":"protein_coding","hgnc_id":"HGNC:3603","gene_name":"fibrillin 1","omim_gene":["134797"],"alias_name":["Marfan syndrome","asprosin"],"gene_symbol":"FBN1","hgnc_symbol":"FBN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:48700503-48938046","ensembl_id":"ENSG00000166147"}},"GRch38":{"90":{"location":"15:48408306-48645849","ensembl_id":"ENSG00000166147"}}},"hgnc_date_symbol_changed":"1987-09-11"},"entity_type":"gene","entity_name":"FBN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["8563763","16596670","24039054","27884935"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Shprintzen-Goldberg syndrome","Marfan syndrome MIM#154700"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":93,"hash_id":null,"name":"Craniosynostosis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH. It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.","status":"public","version":"1.85","version_created":"2026-04-07T13:46:55.940488+10:00","relevant_disorders":["Craniosynostosis HP:0001363"],"stats":{"number_of_genes":105,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["L11"],"biotype":"protein_coding","hgnc_id":"HGNC:10301","gene_name":"ribosomal protein L11","omim_gene":["604175"],"alias_name":null,"gene_symbol":"RPL11","hgnc_symbol":"RPL11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:24018269-24022915","ensembl_id":"ENSG00000142676"}},"GRch38":{"90":{"location":"1:23691779-23696425","ensembl_id":"ENSG00000142676"}}},"hgnc_date_symbol_changed":"1998-07-23"},"entity_type":"gene","entity_name":"RPL11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19061985"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Diamond-Blackfan anemia 7, MIM# 612562","MONDO:0012938"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":98,"hash_id":null,"name":"Diamond Blackfan anaemia","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nDiamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. Main features are:\r\n-normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow\r\n-growth retardation\r\n-craniofacial, upper limb, heart, and urinary system congenital malformations.\r\n\r\nIncreased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F are typical; however, there is significant variability.\r\n\r\nDBA is caused by variants in the large and small ribosomal protein genes. Deletions are common, and may not be reported as part of some NGS assays.\r\n\r\nPlease also refer to the Bone Marrow Failure, Chromosome Breakage Disorders, and Bleeding and Platelet disorders panels if a broader differential diagnosis is being considered.","status":"public","version":"1.16","version_created":"2026-03-17T20:20:46.699102+11:00","relevant_disorders":["Anemia","HP:0001903; Abnormality of thumb morphology","HP:0001172"],"stats":{"number_of_genes":28,"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":["DD","BABP","DD2","HAKRD","MCDR2"],"biotype":"protein_coding","hgnc_id":"HGNC:385","gene_name":"aldo-keto reductase family 1 member C2","omim_gene":["600450"],"alias_name":["dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III"],"gene_symbol":"AKR1C2","hgnc_symbol":"AKR1C2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:5029967-5060223","ensembl_id":"ENSG00000151632"}},"GRch38":{"90":{"location":"10:4987400-5018031","ensembl_id":"ENSG00000151632"}}},"hgnc_date_symbol_changed":"1994-09-14"},"entity_type":"gene","entity_name":"AKR1C2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21802064"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["46XY sex reversal 8, MIM# 614279"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":99,"hash_id":null,"name":"Differences of Sex Development","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 atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.50","version_created":"2026-04-12T14:14:27.453739+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":142,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1902"],"biotype":"protein_coding","hgnc_id":"HGNC:18267","gene_name":"formin like 2","omim_gene":["616285"],"alias_name":null,"gene_symbol":"FMNL2","hgnc_symbol":"FMNL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:153191751-153506348","ensembl_id":"ENSG00000157827"}},"GRch38":{"90":{"location":"2:152335237-152649834","ensembl_id":"ENSG00000157827"}}},"hgnc_date_symbol_changed":"2003-12-03"},"entity_type":"gene","entity_name":"FMNL2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["34043722"],"evidence":["Expert Review Red","Literature"],"phenotypes":["inflammatory bowel disease, MONDO:0005265, FMNL2-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":123,"hash_id":null,"name":"Inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.126","version_created":"2025-10-16T15:50:33.114198+11:00","relevant_disorders":["Gastrointestinal inflammation","HP:0004386"],"stats":{"number_of_genes":85,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["71-7A","JBTS10"],"biotype":"protein_coding","hgnc_id":"HGNC:2567","gene_name":"OFD1, centriole and centriolar satellite protein","omim_gene":["300170"],"alias_name":null,"gene_symbol":"OFD1","hgnc_symbol":"OFD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:13752832-13787480","ensembl_id":"ENSG00000046651"}},"GRch38":{"90":{"location":"X:13734745-13769353","ensembl_id":"ENSG00000046651"}}},"hgnc_date_symbol_changed":"1998-10-01"},"entity_type":"gene","entity_name":"OFD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19800048","22353940","32944789","30895720"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 10, MIM# 300804"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":129,"hash_id":null,"name":"Joubert syndrome and other neurological ciliopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes associated with Joubert syndrome, Meckel Gruber syndrome and other ciliopathies where structural CNS abnormalities are prominent.\r\n\r\nPlease consider also applying the Cerebellar and Pontocerebellar Hypoplasia panel in the presence of more non-specific cerebellar abnormalities and applying the Ciliopathy panel in the presence of additional clinical features suggestive of a multi-system ciliopathy.","status":"public","version":"1.33","version_created":"2025-12-16T12:55:34.757878+11:00","relevant_disorders":["Molar tooth sign on MRI","HP:0002419; Joubert syndrome","MONDO:0018772"],"stats":{"number_of_genes":69,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SUR2","CMD1O"],"biotype":"protein_coding","hgnc_id":"HGNC:60","gene_name":"ATP binding cassette subfamily C member 9","omim_gene":["601439"],"alias_name":["sulfonylurea receptor 2"],"gene_symbol":"ABCC9","hgnc_symbol":"ABCC9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:21950335-22094336","ensembl_id":"ENSG00000069431"}},"GRch38":{"90":{"location":"12:21797401-21942529","ensembl_id":"ENSG00000069431"}}},"hgnc_date_symbol_changed":"1999-10-26"},"entity_type":"gene","entity_name":"ABCC9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MFE-2","DBP","SDR8C1"],"biotype":"protein_coding","hgnc_id":"HGNC:5213","gene_name":"hydroxysteroid 17-beta dehydrogenase 4","omim_gene":["601860"],"alias_name":["17beta-estradiol dehydrogenase type IV","peroxisomal multifunctional protein 2","17-beta-HSD IV","17-beta-hydroxysteroid dehydrogenase 4","D-bifunctional protein, peroxisomal","D-3-hydroxyacyl-CoA dehydratase","3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase","beta-keto-reductase","beta-hydroxyacyl dehydrogenase","short chain dehydrogenase/reductase family 8C, member 1"],"gene_symbol":"HSD17B4","hgnc_symbol":"HSD17B4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:118788138-118972894","ensembl_id":"ENSG00000133835"}},"GRch38":{"90":{"location":"5:119452443-119637199","ensembl_id":"ENSG00000133835"}}},"hgnc_date_symbol_changed":"1994-09-14"},"entity_type":"gene","entity_name":"HSD17B4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27790638"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["D-bifunctional protein deficiency, AR (MIM#261515)","Perrault syndrome 1, AR (MIM#233400)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+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":["TIP60","PLIP","cPLA2","HTATIP1","ESA1","ZC2HC5"],"biotype":"protein_coding","hgnc_id":"HGNC:5275","gene_name":"lysine acetyltransferase 5","omim_gene":["601409"],"alias_name":["Tat interacting protein, 60kDa","K-acetyltransferase 5"],"gene_symbol":"KAT5","hgnc_symbol":"KAT5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65479467-65487075","ensembl_id":"ENSG00000172977"}},"GRch38":{"90":{"location":"11:65711996-65719604","ensembl_id":"ENSG00000172977"}}},"hgnc_date_symbol_changed":"2008-07-04"},"entity_type":"gene","entity_name":"KAT5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["32822602"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103","Severe global developmental delay","Intellectual disability","Seizures","Microcephaly","Behavioral abnormality","Sleep disturbance","Morphological abnormality of the central nervous system","Short stature","Oral cleft","Abnormality of the face"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":"1.4739","version_created":"2026-04-12T14:08:16.491946+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":["Calmbp1","ASP","FLJ10517","FLJ10549"],"biotype":"protein_coding","hgnc_id":"HGNC:19048","gene_name":"abnormal spindle microtubule assembly","omim_gene":["605481"],"alias_name":null,"gene_symbol":"ASPM","hgnc_symbol":"ASPM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:197053258-197115824","ensembl_id":"ENSG00000066279"}},"GRch38":{"90":{"location":"1:197084128-197146694","ensembl_id":"ENSG00000066279"}}},"hgnc_date_symbol_changed":"2002-08-13"},"entity_type":"gene","entity_name":"ASPM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29243349"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Microcephaly 5, primary, autosomal recessive, MIM#608716"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+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":["Cav3.3"],"biotype":"protein_coding","hgnc_id":"HGNC:1396","gene_name":"calcium voltage-gated channel subunit alpha1 I","omim_gene":["608230"],"alias_name":null,"gene_symbol":"CACNA1I","hgnc_symbol":"CACNA1I","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:39966758-40085742","ensembl_id":"ENSG00000100346"}},"GRch38":{"90":{"location":"22:39570753-39689737","ensembl_id":"ENSG00000100346"}}},"hgnc_date_symbol_changed":"1999-01-08"},"entity_type":"gene","entity_name":"CACNA1I","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["33704440"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with variable intellectual disability and speech impairment, with or without seizures (NEDISS), MIM#620114"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+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":["HIGM2","CDA2","ARP2","AID"],"biotype":"protein_coding","hgnc_id":"HGNC:13203","gene_name":"activation induced cytidine deaminase","omim_gene":["605257"],"alias_name":null,"gene_symbol":"AICDA","hgnc_symbol":"AICDA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:8754762-8765467","ensembl_id":"ENSG00000111732"}},"GRch38":{"90":{"location":"12:8602166-8612871","ensembl_id":"ENSG00000111732"}}},"hgnc_date_symbol_changed":"2000-09-19"},"entity_type":"gene","entity_name":"AICDA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11007475"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency with hyper-IgM, type 2, MIM# 605258"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+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":["MGC5347","FLJ12286"],"biotype":"protein_coding","hgnc_id":"HGNC:28762","gene_name":"spermatogenesis associated 5 like 1","omim_gene":null,"alias_name":null,"gene_symbol":"SPATA5L1","hgnc_symbol":"SPATA5L1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:45694529-45713617","ensembl_id":"ENSG00000171763"}},"GRch38":{"90":{"location":"15:45402331-45421419","ensembl_id":"ENSG00000171763"}}},"hgnc_date_symbol_changed":"2004-03-16"},"entity_type":"gene","entity_name":"SPATA5L1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34626583"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ET"],"biotype":"protein_coding","hgnc_id":"HGNC:8756","gene_name":"phosphate cytidylyltransferase 2, ethanolamine","omim_gene":["602679"],"alias_name":["CTP:phosphoethanolamine cytidylyltransferase"],"gene_symbol":"PCYT2","hgnc_symbol":"PCYT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:79858841-79869340","ensembl_id":"ENSG00000185813"}},"GRch38":{"90":{"location":"17:81900965-81911464","ensembl_id":"ENSG00000185813"}}},"hgnc_date_symbol_changed":"1997-06-09"},"entity_type":"gene","entity_name":"PCYT2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31637422"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Spastic paraplegia 82, autosomal recessive 618770"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0569","SIP-1","SIP1"],"biotype":"protein_coding","hgnc_id":"HGNC:14881","gene_name":"zinc finger E-box binding homeobox 2","omim_gene":["605802"],"alias_name":["SMAD interacting protein 1"],"gene_symbol":"ZEB2","hgnc_symbol":"ZEB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:145141648-145282147","ensembl_id":"ENSG00000169554"}},"GRch38":{"90":{"location":"2:144364364-144524583","ensembl_id":"ENSG00000169554"}}},"hgnc_date_symbol_changed":"2007-02-15"},"entity_type":"gene","entity_name":"ZEB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29300384"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mowat-Wilson syndrome, MIM# 235730","MONDO:0009341"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2198","gene_name":"collagen type I alpha 2 chain","omim_gene":["120160"],"alias_name":["alpha 2(I)-collagen","alpha-2 collagen type I","type I procollagen","collagen I, alpha-2 polypeptide","collagen of skin, tendon and bone, alpha-2 chain"],"gene_symbol":"COL1A2","hgnc_symbol":"COL1A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:94023873-94060544","ensembl_id":"ENSG00000164692"}},"GRch38":{"90":{"location":"7:94394561-94431232","ensembl_id":"ENSG00000164692"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL1A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301472","2897363","8257992","8401517"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Osteogenesis imperfecta type 1 MONDO:0008146","Osteogenesis imperfecta type 2 MONDO:0008147","Osteogenesis imperfecta type 3 MONDO:0009804","Osteogenesis imperfecta type 4 MONDO:0008148"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":147,"hash_id":null,"name":"Osteogenesis Imperfecta and Osteoporosis","disease_group":"Skeletal disorders; Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with osteogenesis imperfecta and osteoporosis. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Osteogenesis imperfecta' panel V5.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.18","version_created":"2026-02-22T14:59:29.563350+11:00","relevant_disorders":["Increased susceptibility to fractures","HP:0002659"],"stats":{"number_of_genes":48,"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":["KIAA1667","LE","BLOC3S2"],"biotype":"protein_coding","hgnc_id":"HGNC:15844","gene_name":"HPS4, biogenesis of lysosomal organelles complex 3 subunit 2","omim_gene":["606682"],"alias_name":null,"gene_symbol":"HPS4","hgnc_symbol":"HPS4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:26839389-26879803","ensembl_id":"ENSG00000100099"}},"GRch38":{"90":{"location":"22:26443423-26483837","ensembl_id":"ENSG00000100099"}}},"hgnc_date_symbol_changed":"2001-06-28"},"entity_type":"gene","entity_name":"HPS4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11836498","12664304"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Hermansky-Pudlak syndrome 4, MIM# 614073","MONDO:0013556"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":162,"hash_id":null,"name":"Pulmonary Fibrosis_Interstitial Lung Disease","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.","status":"public","version":"1.10","version_created":"2026-03-17T11:39:32.713501+11:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":97,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["eIF3-epsilon","eIF3-p47","eIF3f"],"biotype":"protein_coding","hgnc_id":"HGNC:3275","gene_name":"eukaryotic translation initiation factor 3 subunit F","omim_gene":["603914"],"alias_name":null,"gene_symbol":"EIF3F","hgnc_symbol":"EIF3F","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:7991798-8023409","ensembl_id":"ENSG00000175390"}},"GRch38":{"90":{"location":"11:7970251-8001862","ensembl_id":"ENSG00000175390"}}},"hgnc_date_symbol_changed":"2007-07-27"},"entity_type":"gene","entity_name":"EIF3F","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30409806"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mental retardation, autosomal recessive 67, MIM#\t618295"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DKFZp586C1924","OPA7"],"biotype":"protein_coding","hgnc_id":"HGNC:25382","gene_name":"transmembrane protein 126A","omim_gene":["612988"],"alias_name":null,"gene_symbol":"TMEM126A","hgnc_symbol":"TMEM126A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:85359011-85367591","ensembl_id":"ENSG00000171202"}},"GRch38":{"90":{"location":"11:85647967-85656547","ensembl_id":"ENSG00000171202"}}},"hgnc_date_symbol_changed":"2006-02-13"},"entity_type":"gene","entity_name":"TMEM126A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29884839","33879611","31119195","30961538","19327736","20405026"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Disorders of complex I subunits and assembly factors","autosomal recessive optic atrophy, OPA7 type MONDO:0013069"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal 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classifications.\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":"1.2","version_created":"2025-10-30T13:50:05.331358+11:00","relevant_disorders":["Abnormality of complement system","HP:0005339"],"stats":{"number_of_genes":34,"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 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Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1733","dJ257A7.2"],"biotype":"protein_coding","hgnc_id":"HGNC:20990","gene_name":"phosphatase and actin regulator 1","omim_gene":["608723"],"alias_name":null,"gene_symbol":"PHACTR1","hgnc_symbol":"PHACTR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:12717893-13288645","ensembl_id":"ENSG00000112137"}},"GRch38":{"90":{"location":"6:12716805-13290484","ensembl_id":"ENSG00000112137"}}},"hgnc_date_symbol_changed":"2004-05-21"},"entity_type":"gene","entity_name":"PHACTR1","confidence_level":"3","penetrance":"Incomplete","mode_of_pathogenicity":"Other","publications":["30256902","28135719","23033978","27457812"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Epileptic encephalopathy, early infantile, 70, MIM# 618298","PHACTR1-associated neurodevelopment disorder"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["hGB1a","GPRC3A"],"biotype":"protein_coding","hgnc_id":"HGNC:4070","gene_name":"gamma-aminobutyric acid type B receptor subunit 1","omim_gene":["603540"],"alias_name":["GABA-B receptor"],"gene_symbol":"GABBR1","hgnc_symbol":"GABBR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:29523406-29601753","ensembl_id":"ENSG00000204681"}},"GRch38":{"90":{"location":"6:29555629-29633976","ensembl_id":"ENSG00000204681"}}},"hgnc_date_symbol_changed":"1998-04-21"},"entity_type":"gene","entity_name":"GABBR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36103875"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CDGAP"],"biotype":"protein_coding","hgnc_id":"HGNC:29216","gene_name":"Rho GTPase activating protein 31","omim_gene":["610911"],"alias_name":null,"gene_symbol":"ARHGAP31","hgnc_symbol":"ARHGAP31","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:119013220-119139561","ensembl_id":"ENSG00000031081"}},"GRch38":{"90":{"location":"3:119294373-119420714","ensembl_id":"ENSG00000031081"}}},"hgnc_date_symbol_changed":"2010-02-19"},"entity_type":"gene","entity_name":"ARHGAP31","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21565291","29924900"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","UKGTN","Radboud University Medical Center, Nijmegen","Expert Review Green","NHS GMS","Expert list","Emory Genetics Laboratory","Genetic Health Queensland","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Adams-Oliver syndrome 1 100300"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ND3","NAD3"],"biotype":"protein_coding","hgnc_id":"HGNC:7458","gene_name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3","omim_gene":["516002"],"alias_name":["complex I ND3 subunit","NADH-ubiquinone oxidoreductase chain 3"],"gene_symbol":"MT-ND3","hgnc_symbol":"MT-ND3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:10059-10404","ensembl_id":"ENSG00000198840"}},"GRch38":{"90":{"location":"MT:10059-10404","ensembl_id":"ENSG00000198840"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-ND3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["1928099","14705112","14764913","17152068","20202874","25118196","25384404","11456298","19458970","30199507","29237403"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-ND3-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ20561","HsT18960","nclf"],"biotype":"protein_coding","hgnc_id":"HGNC:2077","gene_name":"CLN6, transmembrane ER protein","omim_gene":["606725"],"alias_name":null,"gene_symbol":"CLN6","hgnc_symbol":"CLN6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:68499330-68549549","ensembl_id":"ENSG00000128973"}},"GRch38":{"90":{"location":"15:68206992-68257211","ensembl_id":"ENSG00000128973"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"CLN6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21549341","30561534","33024953","34597687"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300","Ceroid lipofuscinosis, neuronal, 6, 601780"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":331,"hash_id":null,"name":"Progressive Myoclonic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause progressive myoclonic epilepsies (PME) and neuronal ceroid lipofuscinoses (NCLs). It is maintained by Royal Melbourne Hospital.","status":"public","version":"0.28","version_created":"2025-11-21T09:34:57.163082+11:00","relevant_disorders":["Myoclonic seizure","HP:0032794"],"stats":{"number_of_genes":33,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CMT2N","AlaRS"],"biotype":"protein_coding","hgnc_id":"HGNC:20","gene_name":"alanyl-tRNA synthetase","omim_gene":["601065"],"alias_name":["alanine tRNA ligase 1, cytoplasmic"],"gene_symbol":"AARS","hgnc_symbol":"AARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:70286198-70323446","ensembl_id":"ENSG00000090861"}},"GRch38":{"90":{"location":"16:70252295-70289543","ensembl_id":"ENSG00000090861"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"AARS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20045102","22009580","22206013","30373780","26032230"],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green"],"phenotypes":["Charcot Marie Tooth disease, axonal, type 2N, 613287","HMSN, dHMN/dSMA"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"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":["SYNE-1B","KIAA0796","8B","Nesprin-1","enaptin","MYNE1","CPG2","dJ45H2.2","SCAR8","ARCA1","Nesp1"],"biotype":"protein_coding","hgnc_id":"HGNC:17089","gene_name":"spectrin repeat containing nuclear envelope protein 1","omim_gene":["608441"],"alias_name":["myocyte nuclear envelope protein 1","nuclear envelope spectrin repeat-1"],"gene_symbol":"SYNE1","hgnc_symbol":"SYNE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:152442819-152958936","ensembl_id":"ENSG00000131018"}},"GRch38":{"90":{"location":"6:152121684-152637801","ensembl_id":"ENSG00000131018"}}},"hgnc_date_symbol_changed":"2003-02-19"},"entity_type":"gene","entity_name":"SYNE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review","Expert Review Green","Expert Review Green","Royal Melbourne Hospital","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3071,"hash_id":null,"name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.65","version_created":"2026-01-21T10:59:30.179226+11:00","relevant_disorders":["Limb-girdle muscular dystrophy","MONDO:0016971; Proximal muscle weakness","HP:0003701; Distal myopathy MONDO:0018949"],"stats":{"number_of_genes":102,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12422","gene_name":"tuftelin 1","omim_gene":["600087"],"alias_name":null,"gene_symbol":"TUFT1","hgnc_symbol":"TUFT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:151512781-151556059","ensembl_id":"ENSG00000143367"}},"GRch38":{"90":{"location":"1:151540305-151583583","ensembl_id":"ENSG00000143367"}}},"hgnc_date_symbol_changed":"1993-08-24"},"entity_type":"gene","entity_name":"TUFT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37716648","36689526","36689522"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Woolly hair-skin fragility syndrome, MIM# 620415"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3089,"hash_id":null,"name":"Ectodermal Dysplasia","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body.\r\n\r\nThis is a consensus panel used by RMH and VCGS.\r\n\r\nPlease refer to the Hair Disorders panel for disorders primarily affecting hair.","status":"public","version":"0.110","version_created":"2026-03-31T16:43:36.155380+11:00","relevant_disorders":["Ectodermal dysplasia","HP:0000968"],"stats":{"number_of_genes":61,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC11251","TSP-EAR"],"biotype":"protein_coding","hgnc_id":"HGNC:1268","gene_name":"thrombospondin type laminin G domain and EAR repeats","omim_gene":["612920"],"alias_name":null,"gene_symbol":"TSPEAR","hgnc_symbol":"TSPEAR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:45917775-46131495","ensembl_id":"ENSG00000175894"}},"GRch38":{"90":{"location":"21:44497892-44711580","ensembl_id":"ENSG00000175894"}}},"hgnc_date_symbol_changed":"2011-01-25"},"entity_type":"gene","entity_name":"TSPEAR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27736875","30046887"],"evidence":["Expert Review Green","Expert list","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3089,"hash_id":null,"name":"Ectodermal Dysplasia","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body.\r\n\r\nThis is a consensus panel used by RMH and VCGS.\r\n\r\nPlease refer to the Hair Disorders panel for disorders primarily affecting hair.","status":"public","version":"0.110","version_created":"2026-03-31T16:43:36.155380+11:00","relevant_disorders":["Ectodermal dysplasia","HP:0000968"],"stats":{"number_of_genes":61,"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":["FLJ20297","FLJ20756","nSMase-3","KIAA1418","NSMASE3","NET13"],"biotype":"protein_coding","hgnc_id":"HGNC:32949","gene_name":"sphingomyelin phosphodiesterase 4","omim_gene":["610457"],"alias_name":["neutral sphingomyelinase-3"],"gene_symbol":"SMPD4","hgnc_symbol":"SMPD4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:130908981-130940323","ensembl_id":"ENSG00000136699"}},"GRch38":{"90":{"location":"2:130151392-130182750","ensembl_id":"ENSG00000136699"}}},"hgnc_date_symbol_changed":"2006-07-12"},"entity_type":"gene","entity_name":"SMPD4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 36732302"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MIM#618622"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3093,"hash_id":null,"name":"Monogenic Diabetes","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).","status":"public","version":"0.224","version_created":"2026-04-06T18:03:06.439122+10:00","relevant_disorders":["Diabetes mellitus","HP:0000819"],"stats":{"number_of_genes":109,"number_of_strs":0,"number_of_regions":2},"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"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DRN3"],"biotype":"protein_coding","hgnc_id":"HGNC:12269","gene_name":"three prime repair exonuclease 1","omim_gene":["606609"],"alias_name":null,"gene_symbol":"TREX1","hgnc_symbol":"TREX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:48506445-48509044","ensembl_id":"ENSG00000213689"}},"GRch38":{"90":{"location":"3:48465811-48467645","ensembl_id":"ENSG00000213689"}}},"hgnc_date_symbol_changed":"2000-05-17"},"entity_type":"gene","entity_name":"TREX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17660820"],"evidence":["Expert Review Green","RetNet"],"phenotypes":["Vasculopathy, retinal, with cerebral leukodystrophy, MIM# 192315"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.256","version_created":"2026-03-31T19:05:29.271183+11:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":138,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6831","gene_name":"mannosidase beta","omim_gene":["609489"],"alias_name":["beta-mannosidase A"],"gene_symbol":"MANBA","hgnc_symbol":"MANBA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:103552660-103682151","ensembl_id":"ENSG00000109323"}},"GRch38":{"90":{"location":"4:102631488-102760994","ensembl_id":"ENSG00000109323"}}},"hgnc_date_symbol_changed":"1990-05-25"},"entity_type":"gene","entity_name":"MANBA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mannosidosis, beta, 248510 (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":["SP-B"],"biotype":"protein_coding","hgnc_id":"HGNC:10801","gene_name":"surfactant protein B","omim_gene":["178640"],"alias_name":null,"gene_symbol":"SFTPB","hgnc_symbol":"SFTPB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:85884437-85895864","ensembl_id":"ENSG00000168878"}},"GRch38":{"90":{"location":"2:85657314-85668741","ensembl_id":"ENSG00000168878"}}},"hgnc_date_symbol_changed":"1988-07-06"},"entity_type":"gene","entity_name":"SFTPB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Surfactant metabolism dysfunction, pulmonary, 1, 265120 (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":["NIMP"],"biotype":"protein_coding","hgnc_id":"HGNC:18647","gene_name":"reticulon 4 interacting protein 1","omim_gene":["610502"],"alias_name":null,"gene_symbol":"RTN4IP1","hgnc_symbol":"RTN4IP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:107018903-107077373","ensembl_id":"ENSG00000130347"}},"GRch38":{"90":{"location":"6:106571971-106629487","ensembl_id":"ENSG00000130347"}}},"hgnc_date_symbol_changed":"2002-05-23"},"entity_type":"gene","entity_name":"RTN4IP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3), Autosomal recessive"],"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":["FLJ30845","CILD12"],"biotype":"protein_coding","hgnc_id":"HGNC:21057","gene_name":"radial spoke head 9 homolog","omim_gene":["612648"],"alias_name":null,"gene_symbol":"RSPH9","hgnc_symbol":"RSPH9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:43612783-43640336","ensembl_id":"ENSG00000172426"}},"GRch38":{"90":{"location":"6:43645046-43672599","ensembl_id":"ENSG00000172426"}}},"hgnc_date_symbol_changed":"2009-02-17"},"entity_type":"gene","entity_name":"RSPH9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ciliary dyskinesia, primary, 12, 612650 (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":["HSORC1","PARC1"],"biotype":"protein_coding","hgnc_id":"HGNC:8487","gene_name":"origin recognition complex subunit 1","omim_gene":["601902"],"alias_name":["origin recognition complex, subunit 1, S. cerevisiae, homolog-like","origin recognition complex 1","replication control protein 1"],"gene_symbol":"ORC1","hgnc_symbol":"ORC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:52838501-52870131","ensembl_id":"ENSG00000085840"}},"GRch38":{"90":{"location":"1:52372829-52404459","ensembl_id":"ENSG00000085840"}}},"hgnc_date_symbol_changed":"2010-10-12"},"entity_type":"gene","entity_name":"ORC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Meier-Gorlin syndrome 1, 224690 (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":["NE-Dlg","SAP102","SAP-102","NEDLG","KIAA1232","MRX90","PPP1R82"],"biotype":"protein_coding","hgnc_id":"HGNC:2902","gene_name":"discs large MAGUK scaffold protein 3","omim_gene":["300189"],"alias_name":["neuroendocrine-dlg","protein phosphatase 1, regulatory subunit 82"],"gene_symbol":"DLG3","hgnc_symbol":"DLG3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:69664711-69725337","ensembl_id":"ENSG00000082458"}},"GRch38":{"90":{"location":"X:70444861-70505490","ensembl_id":"ENSG00000082458"}}},"hgnc_date_symbol_changed":"1997-04-21"},"entity_type":"gene","entity_name":"DLG3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mental retardation, X-linked 90, 300850 (3)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["SemB","FLJ12287","CORD10"],"biotype":"protein_coding","hgnc_id":"HGNC:10729","gene_name":"semaphorin 4A","omim_gene":["607292"],"alias_name":null,"gene_symbol":"SEMA4A","hgnc_symbol":"SEMA4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:156117157-156147543","ensembl_id":"ENSG00000196189"}},"GRch38":{"90":{"location":"1:156147366-156177752","ensembl_id":"ENSG00000196189"}}},"hgnc_date_symbol_changed":"2004-04-22"},"entity_type":"gene","entity_name":"SEMA4A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["30679166","16199541","28805479","23360997","15277503"],"evidence":["Expert Review Amber","Royal Melbourne Hospital"],"phenotypes":["Cone-rod dystrophy 10, 610283"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3147,"hash_id":null,"name":"Cone-rod Dystrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause non-syndromic cone and cone-rod dystrophies, characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. This panel was developed and is maintained by RMH, and is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.","status":"public","version":"0.68","version_created":"2026-04-11T11:12:33.696021+10:00","relevant_disorders":["Retinal dystrophy","HP:0000556"],"stats":{"number_of_genes":41,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KRAS1"],"biotype":"protein_coding","hgnc_id":"HGNC:6407","gene_name":"KRAS proto-oncogene, GTPase","omim_gene":["190070"],"alias_name":null,"gene_symbol":"KRAS","hgnc_symbol":"KRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:25357723-25403870","ensembl_id":"ENSG00000133703"}},"GRch38":{"90":{"location":"12:25204789-25250936","ensembl_id":"ENSG00000133703"}}},"hgnc_date_symbol_changed":"2005-01-24"},"entity_type":"gene","entity_name":"KRAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["30677207","30544177","31160609"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Arteriovenous malformation of the brain, somatic 108010","Vascular malformation"],"mode_of_inheritance":"Other","tags":["somatic"],"panel":{"id":3181,"hash_id":null,"name":"Vascular Malformations_Somatic","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes that cause vascular malformations as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nIf a germline disorder is suspected, please use the Vascular Malformations_Germline panel.","status":"public","version":"1.16","version_created":"2025-10-02T12:54:21.549968+10:00","relevant_disorders":["Abnormal vascular morphology HP:0025015"],"stats":{"number_of_genes":25,"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":["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":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694)"],"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:7988","gene_name":"nebulin related anchoring protein","omim_gene":["602873"],"alias_name":null,"gene_symbol":"NRAP","hgnc_symbol":"NRAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:115348475-115423886","ensembl_id":"ENSG00000197893"}},"GRch38":{"90":{"location":"10:113588716-113664127","ensembl_id":"ENSG00000197893"}}},"hgnc_date_symbol_changed":"1997-04-21"},"entity_type":"gene","entity_name":"NRAP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33534821","30384889","28611399","32870709"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Dilated cardiomyopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ12118"],"biotype":"protein_coding","hgnc_id":"HGNC:25695","gene_name":"cysteinyl-tRNA synthetase 2, mitochondrial","omim_gene":["612800"],"alias_name":["cysteine tRNA ligase 2, mitochondrial (putative)"],"gene_symbol":"CARS2","hgnc_symbol":"CARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:111293759-111365950","ensembl_id":"ENSG00000134905"}},"GRch38":{"90":{"location":"13:110641412-110713603","ensembl_id":"ENSG00000134905"}}},"hgnc_date_symbol_changed":"2007-01-24"},"entity_type":"gene","entity_name":"CARS2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Epileptic encephalopathy"],"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":["CSA"],"biotype":"protein_coding","hgnc_id":"HGNC:3439","gene_name":"ERCC excision repair 8, CSA ubiquitin ligase complex subunit","omim_gene":["609412"],"alias_name":null,"gene_symbol":"ERCC8","hgnc_symbol":"ERCC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:60169658-60240900","ensembl_id":"ENSG00000049167"}},"GRch38":{"90":{"location":"5:60873831-60945073","ensembl_id":"ENSG00000049167"}}},"hgnc_date_symbol_changed":"1995-02-07"},"entity_type":"gene","entity_name":"ERCC8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Cockayne syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0364","IGDC1","IGCD1","INHBP","MGC75490","PGSF2"],"biotype":"protein_coding","hgnc_id":"HGNC:5948","gene_name":"immunoglobulin superfamily member 1","omim_gene":["300137"],"alias_name":null,"gene_symbol":"IGSF1","hgnc_symbol":"IGSF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:130407480-130533677","ensembl_id":"ENSG00000147255"}},"GRch38":{"90":{"location":"X:131273506-131578899","ensembl_id":"ENSG00000147255"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"IGSF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Central hypothyroidism and testicular enlargement"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RECQL2","RECQ3"],"biotype":"protein_coding","hgnc_id":"HGNC:12791","gene_name":"Werner syndrome RecQ like helicase","omim_gene":["604611"],"alias_name":null,"gene_symbol":"WRN","hgnc_symbol":"WRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:30891317-31031285","ensembl_id":"ENSG00000165392"}},"GRch38":{"90":{"location":"8:31033801-31173769","ensembl_id":"ENSG00000165392"}}},"hgnc_date_symbol_changed":"1991-08-21"},"entity_type":"gene","entity_name":"WRN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Werner syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MOZ","ZC2HC6A"],"biotype":"protein_coding","hgnc_id":"HGNC:13013","gene_name":"lysine acetyltransferase 6A","omim_gene":["601408"],"alias_name":["Monocytic leukemia zinc finger protein"],"gene_symbol":"KAT6A","hgnc_symbol":"KAT6A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:41786997-41909508","ensembl_id":"ENSG00000083168"}},"GRch38":{"90":{"location":"8:41929479-42051990","ensembl_id":"ENSG00000083168"}}},"hgnc_date_symbol_changed":"2011-07-21"},"entity_type":"gene","entity_name":"KAT6A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["MENTAL RETARDATION, AUTOSOMAL DOMINANT 32","MRD32"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6161","gene_name":"integrin subunit beta 6","omim_gene":["147558"],"alias_name":null,"gene_symbol":"ITGB6","hgnc_symbol":"ITGB6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:160956177-161128399","ensembl_id":"ENSG00000115221"}},"GRch38":{"90":{"location":"2:160099666-160271888","ensembl_id":"ENSG00000115221"}}},"hgnc_date_symbol_changed":"1992-02-14"},"entity_type":"gene","entity_name":"ITGB6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25431241","26695873","24305999","24319098"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Amelogenesis imperfecta, type IH, MIM# 616221"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3564,"hash_id":null,"name":"Amelogenesis imperfecta","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"1.14","version_created":"2026-01-09T15:02:14.439855+11:00","relevant_disorders":["Amelogenesis imperfecta","HP:0000705"],"stats":{"number_of_genes":41,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ZFYVE3"],"biotype":"protein_coding","hgnc_id":"HGNC:3663","gene_name":"FYVE, RhoGEF and PH domain containing 1","omim_gene":["300546"],"alias_name":null,"gene_symbol":"FGD1","hgnc_symbol":"FGD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:54471887-54522599","ensembl_id":"ENSG00000102302"}},"GRch38":{"90":{"location":"X:54445454-54496166","ensembl_id":"ENSG00000102302"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"FGD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7954831","20082460"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Aarskog-Scott syndrome, MIM # 305400"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["CILD6","SPTRX2","NM23-H8"],"biotype":"protein_coding","hgnc_id":"HGNC:16473","gene_name":"NME/NM23 family member 8","omim_gene":["607421"],"alias_name":["sperm-specific thioredoxin 2"],"gene_symbol":"NME8","hgnc_symbol":"NME8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:37888199-37940003","ensembl_id":"ENSG00000086288"}},"GRch38":{"90":{"location":"7:37848597-37900401","ensembl_id":"ENSG00000086288"}}},"hgnc_date_symbol_changed":"2012-05-18"},"entity_type":"gene","entity_name":"NME8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PubMed: 12032915","12483741","12928894"],"evidence":["Expert Review Green","Literature"],"phenotypes":["CINCA syndrome, OMIM # 607115"],"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:3029","gene_name":"developmentally regulated GTP binding protein 1","omim_gene":["603952"],"alias_name":null,"gene_symbol":"DRG1","hgnc_symbol":"DRG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:31795509-31924726","ensembl_id":"ENSG00000185721"}},"GRch38":{"90":{"location":"22:31399523-31530634","ensembl_id":"ENSG00000185721"}}},"hgnc_date_symbol_changed":"1994-01-21"},"entity_type":"gene","entity_name":"DRG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37179472"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Tan-Almurshedi syndrome, MIM# 620641"],"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:5101","gene_name":"homeobox A11","omim_gene":["142958"],"alias_name":null,"gene_symbol":"HOXA11","hgnc_symbol":"HOXA11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:27221129-27224842","ensembl_id":"ENSG00000005073"}},"GRch38":{"90":{"location":"7:27181510-27185223","ensembl_id":"ENSG00000005073"}}},"hgnc_date_symbol_changed":"1990-07-05"},"entity_type":"gene","entity_name":"HOXA11","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PubMed: 11101832"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 , OMIM #605432"],"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":["WNT14B"],"biotype":"protein_coding","hgnc_id":"HGNC:12779","gene_name":"Wnt family member 9B","omim_gene":["602864"],"alias_name":null,"gene_symbol":"WNT9B","hgnc_symbol":"WNT9B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:44910567-44964096","ensembl_id":"ENSG00000158955"}},"GRch38":{"90":{"location":"17:46833201-46886730","ensembl_id":"ENSG00000158955"}}},"hgnc_date_symbol_changed":"2003-03-14"},"entity_type":"gene","entity_name":"WNT9B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["34145744"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Renal agenesis/hypoplasia/dysplasia, no OMIM #"],"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":["DAN"],"biotype":"protein_coding","hgnc_id":"HGNC:8609","gene_name":"poly(A)-specific ribonuclease","omim_gene":["604212"],"alias_name":["deadenylation nuclease"],"gene_symbol":"PARN","hgnc_symbol":"PARN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:14529558-14726585","ensembl_id":"ENSG00000140694"}},"GRch38":{"90":{"location":"16:14435701-14632728","ensembl_id":"ENSG00000140694"}}},"hgnc_date_symbol_changed":"1998-07-23"},"entity_type":"gene","entity_name":"PARN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371","Dyskeratosis congenita, autosomal recessive 6, MIM# 616353"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3829,"hash_id":null,"name":"IBMDx study","disease_group":"","disease_sub_group":"","description":"The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2,  BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.","status":"public","version":"0.42","version_created":"2026-03-19T18:45:41.236506+11:00","relevant_disorders":[],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Research","slug":"research","description":"Research panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10719"],"biotype":"protein_coding","hgnc_id":"HGNC:25568","gene_name":"Fanconi anemia complementation group I","omim_gene":["611360"],"alias_name":null,"gene_symbol":"FANCI","hgnc_symbol":"FANCI","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89787180-89860492","ensembl_id":"ENSG00000140525"}},"GRch38":{"90":{"location":"15:89243949-89317261","ensembl_id":"ENSG00000140525"}}},"hgnc_date_symbol_changed":"2007-05-03"},"entity_type":"gene","entity_name":"FANCI","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17452773","20301575","26590883"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Fanconi anemia, complementation group I, 609053 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. 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":["KIAA0047","CHMP1","Vps46A"],"biotype":"protein_coding","hgnc_id":"HGNC:8740","gene_name":"charged multivesicular body protein 1A","omim_gene":["164010"],"alias_name":null,"gene_symbol":"CHMP1A","hgnc_symbol":"CHMP1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:89710839-89724253","ensembl_id":"ENSG00000131165"}},"GRch38":{"90":{"location":"16:89644431-89657845","ensembl_id":"ENSG00000131165"}}},"hgnc_date_symbol_changed":"2007-03-20"},"entity_type":"gene","entity_name":"CHMP1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23023333","37789895"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Pontocerebellar hypoplasia, type 8\tMIM#614961"],"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":["NY-REN-43","MGC15161"],"biotype":"protein_coding","hgnc_id":"HGNC:13429","gene_name":"ring finger protein, LIM domain interacting","omim_gene":["300379"],"alias_name":["ring zinc finger protein NY-REN-43antigen","LIM domain interacting ring finger protein","E3 ubiquitin-protein ligase RLIM"],"gene_symbol":"RLIM","hgnc_symbol":"RLIM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:73805052-73834452","ensembl_id":"ENSG00000131263"}},"GRch38":{"90":{"location":"X:74585217-74614617","ensembl_id":"ENSG00000131263"}}},"hgnc_date_symbol_changed":"2009-02-17"},"entity_type":"gene","entity_name":"RLIM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Tonne-Kalscheuer syndrome MIM#300978"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["SRN1","PDCN"],"biotype":"protein_coding","hgnc_id":"HGNC:13394","gene_name":"NPHS2, podocin","omim_gene":["604766"],"alias_name":null,"gene_symbol":"NPHS2","hgnc_symbol":"NPHS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:179519674-179545087","ensembl_id":"ENSG00000116218"}},"GRch38":{"90":{"location":"1:179550539-179575952","ensembl_id":"ENSG00000116218"}}},"hgnc_date_symbol_changed":"2000-11-21"},"entity_type":"gene","entity_name":"NPHS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32467597","30260545","24509478","10742096","23242530","24509478","12464671"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Nephrotic syndrome, type 2 MIM#600995"],"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":["SVMT","SVAT"],"biotype":"protein_coding","hgnc_id":"HGNC:10935","gene_name":"solute carrier family 18 member A2","omim_gene":["193001"],"alias_name":null,"gene_symbol":"SLC18A2","hgnc_symbol":"SLC18A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:119000604-119038941","ensembl_id":"ENSG00000165646"}},"GRch38":{"90":{"location":"10:117241093-117279430","ensembl_id":"ENSG00000165646"}}},"hgnc_date_symbol_changed":"1994-05-25"},"entity_type":"gene","entity_name":"SLC18A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Parkinsonism-dystonia, infantile, 2, MIM# \t618049"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","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":[],"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":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Glutaric acidemia IIB, MIM#231680"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8925","gene_name":"phosphorylase kinase regulatory subunit alpha 1","omim_gene":["311870"],"alias_name":null,"gene_symbol":"PHKA1","hgnc_symbol":"PHKA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:71798664-71934167","ensembl_id":"ENSG00000067177"}},"GRch38":{"90":{"location":"X:72578814-72714319","ensembl_id":"ENSG00000067177"}}},"hgnc_date_symbol_changed":"1989-02-23"},"entity_type":"gene","entity_name":"PHKA1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Phosphorylase kinase deficiency"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["MYO1C","HuncM-IC","MGC104638"],"biotype":"protein_coding","hgnc_id":"HGNC:7599","gene_name":"myosin IE","omim_gene":["601479"],"alias_name":["myosin-IC"],"gene_symbol":"MYO1E","hgnc_symbol":"MYO1E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:59427113-59665099","ensembl_id":"ENSG00000157483"}},"GRch38":{"90":{"location":"15:59132434-59372900","ensembl_id":"ENSG00000157483"}}},"hgnc_date_symbol_changed":"1996-04-04"},"entity_type":"gene","entity_name":"MYO1E","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Focal segmental glomerulosclerosis"],"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":["OI4"],"biotype":"protein_coding","hgnc_id":"HGNC:2197","gene_name":"collagen type I alpha 1 chain","omim_gene":["120150"],"alias_name":null,"gene_symbol":"COL1A1","hgnc_symbol":"COL1A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:48260650-48278993","ensembl_id":"ENSG00000108821"}},"GRch38":{"90":{"location":"17:50183289-50201632","ensembl_id":"ENSG00000108821"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL1A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Osteogenesis imperfecta"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hucep-6","KIAA0272","UCHL2"],"biotype":"protein_coding","hgnc_id":"HGNC:950","gene_name":"BRCA1 associated protein 1","omim_gene":["603089"],"alias_name":["ubiquitin carboxy-terminal hydrolase"],"gene_symbol":"BAP1","hgnc_symbol":"BAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:52435029-52444366","ensembl_id":"ENSG00000163930"}},"GRch38":{"90":{"location":"3:52401013-52410350","ensembl_id":"ENSG00000163930"}}},"hgnc_date_symbol_changed":"1998-09-17"},"entity_type":"gene","entity_name":"BAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","SA Pathology"],"phenotypes":["Tumour predisposition syndrome, MIM#614327"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CL25022","cblD"],"biotype":"protein_coding","hgnc_id":"HGNC:25221","gene_name":"methylmalonic aciduria and homocystinuria, cblD type","omim_gene":["611935"],"alias_name":null,"gene_symbol":"MMADHC","hgnc_symbol":"MMADHC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:150426148-150444330","ensembl_id":"ENSG00000168288"}},"GRch38":{"90":{"location":"2:149569634-149587816","ensembl_id":"ENSG00000168288"}}},"hgnc_date_symbol_changed":"2009-01-08"},"entity_type":"gene","entity_name":"MMADHC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33552904"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Homocystinuria, cblD type, variant 1 MIM#277410","Methylmalonic aciduria and homocystinuria, cblD type MIM#277410","Methylmalonic aciduria, cblD type, variant 2 MIM#277410","Disorders of cobalamin absorption, transport and metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["p53","LFS1"],"biotype":"protein_coding","hgnc_id":"HGNC:11998","gene_name":"tumor protein p53","omim_gene":["191170"],"alias_name":["Li-Fraumeni syndrome"],"gene_symbol":"TP53","hgnc_symbol":"TP53","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7565097-7590856","ensembl_id":"ENSG00000141510"}},"GRch38":{"90":{"location":"17:7661779-7687550","ensembl_id":"ENSG00000141510"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"TP53","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Soft tissue sarcoma, MONDO:0018078","Sarcoma, MONDO:0005089","Li-Fraumeni syndrome, MONDO:0018875","Li-Fraumeni syndrome, MIM#151623"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4358,"hash_id":null,"name":"Sarcoma soft tissue","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with soft tissue sarcoma.\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with soft tissue sarcoma and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.1","version_created":"2026-01-12T09:39:55.152718+11:00","relevant_disorders":[],"stats":{"number_of_genes":17,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1351","FLJ10506","WDR15","HH14","DR11","SRI1"],"biotype":"protein_coding","hgnc_id":"HGNC:13831","gene_name":"WD repeat domain 11","omim_gene":["606417"],"alias_name":["sensitization to ricin complex subunit 1"],"gene_symbol":"WDR11","hgnc_symbol":"WDR11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:122610687-122669036","ensembl_id":"ENSG00000120008"}},"GRch38":{"90":{"location":"10:120851175-120909524","ensembl_id":"ENSG00000120008"}}},"hgnc_date_symbol_changed":"2010-01-06"},"entity_type":"gene","entity_name":"WDR11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Genomics England PanelApp","Expert List","Expert Review Green","Expert Review Green","Expert List"],"phenotypes":["Hypogonadotropic hypogonadism 14 with or without anosmia (614858)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":4521,"hash_id":null,"name":"Hypogonadotropic hypogonadism","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.","status":"public","version":"0.115","version_created":"2026-04-12T14:11:38.693654+10:00","relevant_disorders":[],"stats":{"number_of_genes":84,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"antisense_RNA","hgnc_id":"HGNC:51204","gene_name":"NUTM2B antisense RNA 1","omim_gene":null,"alias_name":null,"gene_symbol":"NUTM2B-AS1","hgnc_symbol":"NUTM2B-AS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:81563813-81586350","ensembl_id":"ENSG00000225484"}},"GRch38":{"90":{"location":"10:79663088-79826594","ensembl_id":"ENSG00000225484"}}},"hgnc_date_symbol_changed":"2014-08-07"},"entity_type":"str","entity_name":"NUTM2B-AS1_OPDM_CCG","confidence_level":"3","penetrance":null,"publications":["31332380"],"evidence":["Literature","Expert Review Green","Expert Review Green","Literature"],"phenotypes":["Oculopharyngeal myopathy with leukoencephalopathy 1 MIM#618637"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CCG","chromosome":"10","grch37_coordinates":[81586142,81586159],"grch38_coordinates":[79826386,79826403],"normal_repeats":16,"pathogenic_repeats":35,"tags":["adult-onset"],"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":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":{"alias":["FA","FARR","X25","CyaY"],"biotype":"protein_coding","hgnc_id":"HGNC:3951","gene_name":"frataxin","omim_gene":["606829"],"alias_name":null,"gene_symbol":"FXN","hgnc_symbol":"FXN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:71650175-71715094","ensembl_id":"ENSG00000165060"}},"GRch38":{"90":{"location":"9:69035259-69100178","ensembl_id":"ENSG00000165060"}}},"hgnc_date_symbol_changed":"2004-08-19"},"entity_type":"str","entity_name":"FXN_FRDA_GAA","confidence_level":"3","penetrance":null,"publications":["20301458"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Friedreich ataxia MIM#229300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","repeated_sequence":"GAA","chromosome":"9","grch37_coordinates":[71652203,71652220],"grch38_coordinates":[69037287,69037304],"normal_repeats":33,"pathogenic_repeats":66,"tags":["STR"],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"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":[]}}]}