{"count":36049,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=228","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=226","results":[{"gene_data":{"alias":["NY-BR-15","bA57K17.2"],"biotype":"protein_coding","hgnc_id":"HGNC:21638","gene_name":"centrosomal protein 85 like","omim_gene":null,"alias_name":null,"gene_symbol":"CEP85L","hgnc_symbol":"CEP85L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:118781935-119031238","ensembl_id":"ENSG00000111860"}},"GRch38":{"90":{"location":"6:118460772-118710075","ensembl_id":"ENSG00000111860"}}},"hgnc_date_symbol_changed":"2011-11-25"},"entity_type":"gene","entity_name":"CEP85L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32097630"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Lissencephaly, posterior predominant"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":15,"hash_id":null,"name":"Lissencephaly and Band Heterotopia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Brain Malformations flagship, and is maintained by VCGS. It is a consensus panel used by RMH.\r\n\r\nIt contains genes associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri, either occurring in isolation or as part of a more complex disorder. The spectrum of lissencephaly ranges from absent (agyria) or decreased (pachygyria) convolutions of the cortex to less severe malformation known as subcortical band heterotopia.\r\n\r\nPlease also consider the Cobblestone Malformations panel and the broader Malformations of cortical development superpanel if features are not entirely typical.","status":"public","version":"1.30","version_created":"2026-01-19T11:50:01.984105+11:00","relevant_disorders":["Lissencephaly HP:0001339;Subcortical band heterotopia HP:0032409"],"stats":{"number_of_genes":46,"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":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CA44"],"biotype":"protein_coding","hgnc_id":"HGNC:2206","gene_name":"collagen type IV alpha 4 chain","omim_gene":["120131"],"alias_name":["collagen of basement membrane, alpha-4 chain"],"gene_symbol":"COL4A4","hgnc_symbol":"COL4A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:227867427-228028829","ensembl_id":"ENSG00000081052"}},"GRch38":{"90":{"location":"2:227002711-227164113","ensembl_id":"ENSG00000081052"}}},"hgnc_date_symbol_changed":"1992-06-25"},"entity_type":"gene","entity_name":"COL4A4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17942953","24052634","12631110","26346198","30450445"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Alport syndrome 2, autosomal recessive, 203780","Thin basement membrane nephropathy (TBMN), AD","Focal segmental glomerulosclerosis (FSGS), AD"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":["Medicare"],"panel":{"id":39,"hash_id":null,"name":"Haematuria_Alport","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panels is intended for use in individuals presenting predominantly with haematuria and/or other features strongly suggestive of Alport syndrome. MBS funding is available for testing of the COL4A3, COL4A4 and COL4A5 genes.\r\n\r\nWhere the clinical presentation is less specific but still strongly suggestive of monogenic glomerular disease, please consider using the broader Renal Glomerular Disease panel.\r\n\r\nThis is a consensus panel used by the KidGen Collaborative, VCGS and RMH. 09/01/2020: This panel has been compared with the Genomics England PanelApp Haematuria panel; no discrepancies were identified.","status":"public","version":"1.2","version_created":"2025-06-05T02:00:04.228914+10:00","relevant_disorders":["Hematuria","HP:0000790; Proteinuria","HP:0000093"],"stats":{"number_of_genes":16,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:29357","gene_name":"additional sex combs like 3, transcriptional regulator","omim_gene":["615115"],"alias_name":null,"gene_symbol":"ASXL3","hgnc_symbol":"ASXL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:31158579-31331156","ensembl_id":"ENSG00000141431"}},"GRch38":{"90":{"location":"18:33578577-33751192","ensembl_id":"ENSG00000141431"}}},"hgnc_date_symbol_changed":"2007-02-01"},"entity_type":"gene","entity_name":"ASXL3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28100473","27901041","23383720"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bainbridge-Ropers syndrome (OMIM # 615485)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":41,"hash_id":null,"name":"Angelman Rett like syndromes","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"1.15","version_created":"2026-04-18T18:48:21.864731+10:00","relevant_disorders":[],"stats":{"number_of_genes":38,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12759","gene_name":"WD repeat containing, antisense to TP73","omim_gene":["606040"],"alias_name":null,"gene_symbol":"WRAP73","hgnc_symbol":"WRAP73","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:3547331-3569325","ensembl_id":"ENSG00000116213"}},"GRch38":{"90":{"location":"1:3630767-3652761","ensembl_id":"ENSG00000116213"}}},"hgnc_date_symbol_changed":"2011-04-13"},"entity_type":"gene","entity_name":"WRAP73","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33693649"],"evidence":["Expert Review Amber","Literature","Literature"],"phenotypes":["Anterior segment dysgenesis, MONDO:0019503, WRAP73-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":43,"hash_id":null,"name":"Eye Anterior Segment Abnormalities","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nAnterior segment dysgeneses are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. Clinical features include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface.\r\n\r\nAnterior segment dysgenesis can occur in isolation or as part of a more complex eye malformation or syndromic disorder. Also consider applying the Anophthalmia_Microphthalmia_Coloboma and Cataracts panels as indicated.","status":"public","version":"1.21","version_created":"2026-04-07T13:50:26.927276+10:00","relevant_disorders":["Abnormal anterior eye segment morphology","HP:0004328"],"stats":{"number_of_genes":29,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["hCG_1645727","NEM6"],"biotype":"protein_coding","hgnc_id":"HGNC:37227","gene_name":"kelch repeat and BTB domain containing 13","omim_gene":["613727"],"alias_name":["nemaline myopathy type 6"],"gene_symbol":"KBTBD13","hgnc_symbol":"KBTBD13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:65369154-65372276","ensembl_id":"ENSG00000234438"}},"GRch38":{"90":{"location":"15:65076816-65078192","ensembl_id":"ENSG00000234438"}}},"hgnc_date_symbol_changed":"2010-01-25"},"entity_type":"gene","entity_name":"KBTBD13","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["36335629"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Intrinsic cardiomyopathy MONDO:0000591"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":48,"hash_id":null,"name":"Arrhythmogenic Cardiomyopathy","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe panel has been compared against the Genomics England PanelApp 'Arrhythmogenic Cardiomyopathy' panel and against the current gene-disease curations by the ClinGen ARVC group, 03/08/2020.","status":"public","version":"1.0","version_created":"2026-03-24T16:23:29.666707+11:00","relevant_disorders":["Arrhythmia","HP:0011675;Cardiomyopathy","HP:0001638"],"stats":{"number_of_genes":19,"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":["L9"],"biotype":"protein_coding","hgnc_id":"HGNC:10369","gene_name":"ribosomal protein L9","omim_gene":["603686"],"alias_name":null,"gene_symbol":"RPL9","hgnc_symbol":"RPL9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:39455744-39460568","ensembl_id":"ENSG00000163682"}},"GRch38":{"90":{"location":"4:39454124-39458948","ensembl_id":"ENSG00000163682"}}},"hgnc_date_symbol_changed":"1993-12-07"},"entity_type":"gene","entity_name":"RPL9","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["29114930","20116044","31799629"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Diamond Blackfan anaemia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":56,"hash_id":null,"name":"Bone Marrow Failure","disease_group":"Haematological disorders","disease_sub_group":"","description":"Bone marrow failure (BMF) refers to the decreased production of one or more major haematopoietic lineages which leads to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.","status":"public","version":"1.141","version_created":"2026-03-17T18:48:23.244194+11:00","relevant_disorders":["Abnormality of multiple cell lineages of the bone marrow","HP:0012145"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ10540","CT111"],"biotype":"protein_coding","hgnc_id":"HGNC:1161","gene_name":"centrosomal protein 55","omim_gene":["610000"],"alias_name":["cancer/testis antigen 111"],"gene_symbol":"CEP55","hgnc_symbol":"CEP55","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:95256389-95288849","ensembl_id":"ENSG00000138180"}},"GRch38":{"90":{"location":"10:93496632-93529092","ensembl_id":"ENSG00000138180"}}},"hgnc_date_symbol_changed":"2005-12-01"},"entity_type":"gene","entity_name":"CEP55","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28295209","28264986","30622327"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM#236500"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":63,"hash_id":null,"name":"Congenital anomalies of the kidney and urinary tract (CAKUT)","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel contains genes associated with nonsyndromic and syndromic congenital anomalies of the kidney and urinary tract (CAKUT).","status":"public","version":"0.207","version_created":"2026-04-15T16:43:07.852176+10:00","relevant_disorders":["Abnormality of the urinary system HP:0000079"],"stats":{"number_of_genes":124,"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":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RAB3GAP","KIAA0066","RAB3GAP130","WARBM1"],"biotype":"protein_coding","hgnc_id":"HGNC:17063","gene_name":"RAB3 GTPase activating protein catalytic subunit 1","omim_gene":["602536"],"alias_name":null,"gene_symbol":"RAB3GAP1","hgnc_symbol":"RAB3GAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:135809835-135933964","ensembl_id":"ENSG00000115839"}},"GRch38":{"90":{"location":"2:135052265-135176394","ensembl_id":"ENSG00000115839"}}},"hgnc_date_symbol_changed":"2005-08-23"},"entity_type":"gene","entity_name":"RAB3GAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15696165","20512159","23420520","23420520","30730599"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Warburg micro syndrome 1, MIM# 600118","Martsolf syndrome 2, MIM#\t619420"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4115","gene_name":"galactosylceramidase","omim_gene":["606890"],"alias_name":["Krabbe disease"],"gene_symbol":"GALC","hgnc_symbol":"GALC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:88304164-88460009","ensembl_id":"ENSG00000054983"}},"GRch38":{"90":{"location":"14:87837820-87993665","ensembl_id":"ENSG00000054983"}}},"hgnc_date_symbol_changed":"1989-06-02"},"entity_type":"gene","entity_name":"GALC","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Krabbe disease, MIM#245200"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["p180"],"biotype":"protein_coding","hgnc_id":"HGNC:9173","gene_name":"DNA polymerase alpha 1, catalytic subunit","omim_gene":["312040"],"alias_name":null,"gene_symbol":"POLA1","hgnc_symbol":"POLA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:24712036-25015103","ensembl_id":"ENSG00000101868"}},"GRch38":{"90":{"location":"X:24693919-24996986","ensembl_id":"ENSG00000101868"}}},"hgnc_date_symbol_changed":"2006-09-26"},"entity_type":"gene","entity_name":"POLA1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Van Esch-O'Driscoll syndrome, MIM#301030"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":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":["Mi-2b","Mi2-BETA"],"biotype":"protein_coding","hgnc_id":"HGNC:1919","gene_name":"chromodomain helicase DNA binding protein 4","omim_gene":["603277"],"alias_name":null,"gene_symbol":"CHD4","hgnc_symbol":"CHD4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:6679249-6716642","ensembl_id":"ENSG00000111642"}},"GRch38":{"90":{"location":"12:6570083-6607476","ensembl_id":"ENSG00000111642"}}},"hgnc_date_symbol_changed":"1998-03-20"},"entity_type":"gene","entity_name":"CHD4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31388190","31474762","27479907","27616479","24348274","37254794"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Sifrim-Hitz-Weiss syndrome (MIM#617159)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":76,"hash_id":null,"name":"Congenital Heart Defect","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.","status":"public","version":"0.534","version_created":"2026-03-30T13:14:35.719896+11:00","relevant_disorders":["Abnormal heart morphology HP:0001627"],"stats":{"number_of_genes":253,"number_of_strs":1,"number_of_regions":10},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CMD1P"],"biotype":"protein_coding","hgnc_id":"HGNC:9080","gene_name":"phospholamban","omim_gene":["172405"],"alias_name":null,"gene_symbol":"PLN","hgnc_symbol":"PLN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:118869461-118881893","ensembl_id":"ENSG00000198523"}},"GRch38":{"90":{"location":"6:118548298-118560730","ensembl_id":"ENSG00000198523"}}},"hgnc_date_symbol_changed":"1991-08-22"},"entity_type":"gene","entity_name":"PLN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33947203"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cardiomyopathy, dilated, 1P, MIM# 609909"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":95,"hash_id":null,"name":"Dilated Cardiomyopathy","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes typically associated with isolated dilated cardiomyopathy, with onset in adolescence or adulthood. For early onset dilated cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England 'Dilated Cardiomyopathy - teen and adult' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England 5/8/2020.\r\n\r\nThe panel is aligned with the assessments of DCM genes by ClinGen, Jordan E et al, 2021, PMID 33947203.","status":"public","version":"1.66","version_created":"2026-04-02T19:34:23.537467+11:00","relevant_disorders":["Dilated cardiomyopathy","HP:0001644"],"stats":{"number_of_genes":69,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CAP2"],"biotype":"protein_coding","hgnc_id":"HGNC:8952","gene_name":"serpin family B member 8","omim_gene":["601697"],"alias_name":["cytoplasmic antiproteinase 2"],"gene_symbol":"SERPINB8","hgnc_symbol":"SERPINB8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:61637159-61672278","ensembl_id":"ENSG00000166401"}},"GRch38":{"90":{"location":"18:63969925-64019779","ensembl_id":"ENSG00000166401"}}},"hgnc_date_symbol_changed":"1995-07-21"},"entity_type":"gene","entity_name":"SERPINB8","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["27476651"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Peeling skin syndrome 5 (MIM#617115)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":101,"hash_id":null,"name":"Epidermolysis bullosa","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.","status":"public","version":"1.27","version_created":"2026-03-08T22:19:30.435795+11:00","relevant_disorders":["Abnormal blistering of the skin","HP:0008066"],"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":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4707","gene_name":"glycogen synthase 2","omim_gene":["138571"],"alias_name":null,"gene_symbol":"GYS2","hgnc_symbol":"GYS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:21689123-21757781","ensembl_id":"ENSG00000111713"}},"GRch38":{"90":{"location":"12:21536189-21604847","ensembl_id":"ENSG00000111713"}}},"hgnc_date_symbol_changed":"1993-09-24"},"entity_type":"gene","entity_name":"GYS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32395408","28245189"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Glycogen storage disease 0, liver (MIM#240600)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":106,"hash_id":null,"name":"Glycogen Storage Diseases","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).","status":"public","version":"1.4","version_created":"2025-11-21T17:00:56.134684+11:00","relevant_disorders":["Abnormal hepatic glycogen storage","HP:0500030; Abnormal muscle glycogen content","HP:0012269; Visceromegaly","HP:0003271;Hypoglycemia","HP:0001943"],"stats":{"number_of_genes":29,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ30899","dJ310J6.1","FLJ34235","bA57L9.1","BROMI"],"biotype":"protein_coding","hgnc_id":"HGNC:21485","gene_name":"TBC1 domain family member 32","omim_gene":["615867"],"alias_name":["broad-minded homolog"],"gene_symbol":"TBC1D32","hgnc_symbol":"TBC1D32","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:121400640-121655891","ensembl_id":"ENSG00000146350"}},"GRch38":{"90":{"location":"6:121079494-121334745","ensembl_id":"ENSG00000146350"}}},"hgnc_date_symbol_changed":"2013-07-10"},"entity_type":"gene","entity_name":"TBC1D32","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31130284","36826837","32573025"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Alsahan-Harris syndrome, MIM#621307","Orofaciodigital syndrome type IX, MIM#258865"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":112,"hash_id":null,"name":"Holoprosencephaly and septo-optic dysplasia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"1.24","version_created":"2026-03-03T11:24:20.637349+11:00","relevant_disorders":["Holoprosencephaly","HP:0001360; Septo-optic dysplasia","HP:0100842"],"stats":{"number_of_genes":31,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["P57","KIP2"],"biotype":"protein_coding","hgnc_id":"HGNC:1786","gene_name":"cyclin dependent kinase inhibitor 1C","omim_gene":["600856"],"alias_name":null,"gene_symbol":"CDKN1C","hgnc_symbol":"CDKN1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:2904443-2907111","ensembl_id":"ENSG00000129757"}},"GRch38":{"90":{"location":"11:2883213-2885881","ensembl_id":"ENSG00000129757"}}},"hgnc_date_symbol_changed":"1995-09-14"},"entity_type":"gene","entity_name":"CDKN1C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37454648"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Beckwith-Wiedemann syndrome due to CDKN1C mutation MONDO:0016476"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","tags":[],"panel":{"id":118,"hash_id":null,"name":"Hyperinsulinism","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS and RMH.\r\n\r\nThis panel contains genes associated with hyperinsulinism (non-syndromic and syndromic). \r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital hyperinsulinism' panel V3.5, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nFor severe, persistent hypoglycaemia, consider also applying the Metabolic Disorders Superpanel, or more specifically, the Glycogen Storage Diseases and Fatty Acid Oxidation Defects panels.\r\n\r\nIf features of the following diagnoses, request alternate genetic test listed:\r\na) Beckwith-Wiedeman syndrome - request BWS methylation studies\r\nb) Congenital central hypoventilation syndrome - request PHOX2B poly-A expansion repeat testing","status":"public","version":"1.51","version_created":"2026-03-09T16:58:00.909830+11:00","relevant_disorders":["Hyperinsulinaemia","HP:0000842;Hypoglycemia","HP:0001943"],"stats":{"number_of_genes":35,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SA-1","SCC3A","SA1"],"biotype":"protein_coding","hgnc_id":"HGNC:11354","gene_name":"stromal antigen 1","omim_gene":["604358"],"alias_name":null,"gene_symbol":"STAG1","hgnc_symbol":"STAG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:136055077-136471220","ensembl_id":"ENSG00000118007"}},"GRch38":{"90":{"location":"3:136336233-136752403","ensembl_id":"ENSG00000118007"}}},"hgnc_date_symbol_changed":"1999-04-29"},"entity_type":"gene","entity_name":"STAG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28119487","34440290"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mental retardation, autosomal dominant 47, MIM# 617635"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["C2TA","NLRA"],"biotype":"protein_coding","hgnc_id":"HGNC:7067","gene_name":"class II major histocompatibility complex transactivator","omim_gene":["600005"],"alias_name":["NLR family, acid domain containing","nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"],"gene_symbol":"CIITA","hgnc_symbol":"CIITA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:10971055-11026079","ensembl_id":"ENSG00000179583"}},"GRch38":{"90":{"location":"16:10866222-10932281","ensembl_id":"ENSG00000179583"}}},"hgnc_date_symbol_changed":"2005-08-12"},"entity_type":"gene","entity_name":"CIITA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8402893","9099848","11862382","28676232","24789686","20197681","11466404","15821736","12910265"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920","varied ID","bronchiolitis","pneumonia","severe autoimmune cytopaenia","CD4 T-cell lymphopaenia","hypogammaglobulinemia","absence of antigen-induced immune response","chronic diarrhoea","recurrent respiratory infections","recurrent gastroenteritis","failure to thrive","liver/biliary tract disease"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["MGC33630","CaM-IP4"],"biotype":"protein_coding","hgnc_id":"HGNC:28506","gene_name":"WD repeat domain 66","omim_gene":null,"alias_name":null,"gene_symbol":"WDR66","hgnc_symbol":"WDR66","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:122355768-122441833","ensembl_id":"ENSG00000158023"}},"GRch38":{"90":{"location":"12:121917862-122003927","ensembl_id":"ENSG00000158023"}}},"hgnc_date_symbol_changed":"2005-05-26"},"entity_type":"gene","entity_name":"WDR66","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30122540","30122541"],"evidence":["Expert Review Green","Literature"],"phenotypes":["spermatogenic failure MONDO:0004983"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:17196","gene_name":"DNA helicase B","omim_gene":["614539"],"alias_name":null,"gene_symbol":"HELB","hgnc_symbol":"HELB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:66696325-66737423","ensembl_id":"ENSG00000127311"}},"GRch38":{"90":{"location":"12:66302545-66347645","ensembl_id":"ENSG00000127311"}}},"hgnc_date_symbol_changed":"2004-03-25"},"entity_type":"gene","entity_name":"HELB","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["41212051"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Premature ovarian failure, MONDO:0019852, HELB-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8794","gene_name":"phosphodiesterase 8B","omim_gene":["603390"],"alias_name":null,"gene_symbol":"PDE8B","hgnc_symbol":"PDE8B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:76506274-76725632","ensembl_id":"ENSG00000113231"}},"GRch38":{"90":{"location":"5:77210449-77429807","ensembl_id":"ENSG00000113231"}}},"hgnc_date_symbol_changed":"1998-11-30"},"entity_type":"gene","entity_name":"PDE8B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20085714","26769607","26475694","39006359, 32097969, 18272904, 25971952, 22335482, 18431404"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Striatal degeneration, autosomal dominant, MIM#609161","Pigmented nodular adrenocortical disease, primary, 3, MONDO:0013616"],"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. 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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":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["KIAA0862","SOC2","SUR-8","SOC-2","SUR8"],"biotype":"protein_coding","hgnc_id":"HGNC:15454","gene_name":"SHOC2, leucine rich repeat scaffold protein","omim_gene":["602775"],"alias_name":null,"gene_symbol":"SHOC2","hgnc_symbol":"SHOC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:112679301-112773425","ensembl_id":"ENSG00000108061"}},"GRch38":{"90":{"location":"10:110919547-111013667","ensembl_id":"ENSG00000108061"}}},"hgnc_date_symbol_changed":"2001-03-30"},"entity_type":"gene","entity_name":"SHOC2","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":["19684605","23918763","20882035"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Noonan syndrome-like with loose anagen hair 1, MIM# 607721"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2698","gene_name":"dihydrolipoamide branched chain transacylase E2","omim_gene":["248610"],"alias_name":["dihydrolipoyllysine-residue (2-methylpropanoyl)transferase","lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial"],"gene_symbol":"DBT","hgnc_symbol":"DBT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:100652475-100715390","ensembl_id":"ENSG00000137992"}},"GRch38":{"90":{"location":"1:100186919-100249834","ensembl_id":"ENSG00000137992"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"DBT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20570198"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Maple syrup urine disease, type II (MIM#248600)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["ATG8G"],"biotype":"protein_coding","hgnc_id":"HGNC:34390","gene_name":"microtubule associated protein 1 light chain 3 beta 2","omim_gene":null,"alias_name":null,"gene_symbol":"MAP1LC3B2","hgnc_symbol":"MAP1LC3B2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:116985911-116992186","ensembl_id":"ENSG00000258102"}},"GRch38":{"90":{"location":"12:116548105-116576448","ensembl_id":"ENSG00000258102"}}},"hgnc_date_symbol_changed":"2008-07-04"},"entity_type":"gene","entity_name":"MAP1LC3B2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["35748970","33310865"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["Hereditary susceptibility to infection, MONDO:0015979, MAP1LC3B2 -related","Mollaret’s meningitis (recurrent lymphocytic meningitis) due to HSV2"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3544","gene_name":"coagulation factor VII","omim_gene":["613878"],"alias_name":["eptacog alfa","FVII coagulation protein","factor VII"],"gene_symbol":"F7","hgnc_symbol":"F7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:113760105-113774995","ensembl_id":"ENSG00000057593"}},"GRch38":{"90":{"location":"13:113105788-113120681","ensembl_id":"ENSG00000057593"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"F7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12181036"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Factor VII deficiency, MIM# 227500","MONDO:0009211"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["CARMA1","BIMP3"],"biotype":"protein_coding","hgnc_id":"HGNC:16393","gene_name":"caspase recruitment domain family member 11","omim_gene":["607210"],"alias_name":["card-maguk protein 1","bcl10-interacting maguk protein 3"],"gene_symbol":"CARD11","hgnc_symbol":"CARD11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:2945775-3083579","ensembl_id":"ENSG00000198286"}},"GRch38":{"90":{"location":"7:2906141-3043945","ensembl_id":"ENSG00000198286"}}},"hgnc_date_symbol_changed":"2001-08-13"},"entity_type":"gene","entity_name":"CARD11","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["28628108","28826773"],"evidence":["Expert Review Red","Expert list","Expert list"],"phenotypes":["Immunodeficiency 11B with atopic dermatitis, MIM#\t617638","HIES (Job syndrome)","Bronchiectasis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["RAD1","FANCQ"],"biotype":"protein_coding","hgnc_id":"HGNC:3436","gene_name":"ERCC excision repair 4, endonuclease catalytic subunit","omim_gene":["133520"],"alias_name":["xeroderma pigmentosum, complementation group F"],"gene_symbol":"ERCC4","hgnc_symbol":"ERCC4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:14014014-14046202","ensembl_id":"ENSG00000175595"}},"GRch38":{"90":{"location":"16:13920157-13952345","ensembl_id":"ENSG00000175595"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ERCC4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23623386","8797827","23623389","17183314","29105242"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi aanemia, complementation group Q, MIM# 615272","MONDO:0014108"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":163,"hash_id":null,"name":"Radial Ray Abnormalities","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Radial Dysplasia' panel and all differences have been resolved, with reciprocal feedback provided to Genomics England.","status":"public","version":"1.21","version_created":"2026-01-15T11:51:47.687282+11:00","relevant_disorders":["Abnormality of radial ray","HP:0410049"],"stats":{"number_of_genes":62,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["c-MAF"],"biotype":"protein_coding","hgnc_id":"HGNC:6776","gene_name":"MAF bZIP transcription factor","omim_gene":["177075"],"alias_name":null,"gene_symbol":"MAF","hgnc_symbol":"MAF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:79619740-79634611","ensembl_id":"ENSG00000178573"}},"GRch38":{"90":{"location":"16:79585843-79600714","ensembl_id":"ENSG00000178573"}}},"hgnc_date_symbol_changed":"1991-08-01"},"entity_type":"gene","entity_name":"MAF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30160832","34643041"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Ayme-Gripp syndrome (MIM#601088)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11273","gene_name":"spectrin alpha, non-erythrocytic 1","omim_gene":["182810"],"alias_name":["alpha-fodrin"],"gene_symbol":"SPTAN1","hgnc_symbol":"SPTAN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:131314866-131395941","ensembl_id":"ENSG00000197694"}},"GRch38":{"90":{"location":"9:128552558-128633662","ensembl_id":"ENSG00000197694"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"SPTAN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20493457","22258530","32811770"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Developmental and epileptic encephalopathy 5, MIM# 613477"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ23441","SLM5"],"biotype":"protein_coding","hgnc_id":"HGNC:26274","gene_name":"asparaginyl-tRNA synthetase 2, mitochondrial","omim_gene":["612803"],"alias_name":["asparagine tRNA ligase 2, mitochondrial (putative)"],"gene_symbol":"NARS2","hgnc_symbol":"NARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:78147007-78285919","ensembl_id":"ENSG00000137513"}},"GRch38":{"90":{"location":"11:78435961-78574874","ensembl_id":"ENSG00000137513"}}},"hgnc_date_symbol_changed":"2006-01-17"},"entity_type":"gene","entity_name":"NARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25385316","25807530","30327238","28077841"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Combined oxidative phosphorylation deficiency 24 - MIM#616239"],"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":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10451","gene_name":"ribonucleotide reductase catalytic subunit M1","omim_gene":["180410"],"alias_name":null,"gene_symbol":"RRM1","hgnc_symbol":"RRM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:4115937-4160106","ensembl_id":"ENSG00000167325"}},"GRch38":{"90":{"location":"11:4094707-4138876","ensembl_id":"ENSG00000167325"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"RRM1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 35617047"],"evidence":["Expert Review Amber","Expert list","Expert Review Amber"],"phenotypes":["Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM#\t620647"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CI-24k"],"biotype":"protein_coding","hgnc_id":"HGNC:7717","gene_name":"NADH:ubiquinone oxidoreductase core subunit V2","omim_gene":["600532"],"alias_name":["complex I 24kDa subunit","NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"],"gene_symbol":"NDUFV2","hgnc_symbol":"NDUFV2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:9102628-9134343","ensembl_id":"ENSG00000178127"}},"GRch38":{"90":{"location":"18:9102630-9134345","ensembl_id":"ENSG00000178127"}}},"hgnc_date_symbol_changed":"1994-09-07"},"entity_type":"gene","entity_name":"NDUFV2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["33811136","34405929","12754703","26008862","30770271","19167255"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AGAT"],"biotype":"protein_coding","hgnc_id":"HGNC:4175","gene_name":"glycine amidinotransferase","omim_gene":["602360"],"alias_name":["L-arginine:glycine amidinotransferase"],"gene_symbol":"GATM","hgnc_symbol":"GATM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:45653322-45694525","ensembl_id":"ENSG00000171766"}},"GRch38":{"90":{"location":"15:45361124-45402327","ensembl_id":"ENSG00000171766"}}},"hgnc_date_symbol_changed":"1998-02-20"},"entity_type":"gene","entity_name":"GATM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12468279","20682460","22386973"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cerebral creatine deficiency syndrome 3, MIM# 612718"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BART"],"biotype":"protein_coding","hgnc_id":"HGNC:16512","gene_name":"barttin CLCNK type accessory beta subunit","omim_gene":["606412"],"alias_name":null,"gene_symbol":"BSND","hgnc_symbol":"BSND","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:55464606-55476556","ensembl_id":"ENSG00000162399"}},"GRch38":{"90":{"location":"1:54998933-55010883","ensembl_id":"ENSG00000162399"}}},"hgnc_date_symbol_changed":"2004-01-28"},"entity_type":"gene","entity_name":"BSND","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19646679"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Sensorineural deafness with mild renal dysfunction, MIM# 602522","Bartter syndrome, type 4a, MIM# 602522"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD107b"],"biotype":"protein_coding","hgnc_id":"HGNC:6501","gene_name":"lysosomal associated membrane protein 2","omim_gene":["309060"],"alias_name":null,"gene_symbol":"LAMP2","hgnc_symbol":"LAMP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:119561682-119603220","ensembl_id":"ENSG00000005893"}},"GRch38":{"90":{"location":"X:120427827-120469365","ensembl_id":"ENSG00000005893"}}},"hgnc_date_symbol_changed":"1990-08-03"},"entity_type":"gene","entity_name":"LAMP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Danon disease, MIM#300257"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7010","gene_name":"menin 1","omim_gene":["613733"],"alias_name":["menin"],"gene_symbol":"MEN1","hgnc_symbol":"MEN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:64570982-64578766","ensembl_id":"ENSG00000133895"}},"GRch38":{"90":{"location":"11:64803510-64811294","ensembl_id":"ENSG00000133895"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MEN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance"],"phenotypes":["Multiple endocrine neoplasia 1, MIM# 131100"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. 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lymphoedema.","status":"public","version":"0.32","version_created":"2026-02-06T22:04:55.315713+11:00","relevant_disorders":["Lymphedema","HP:0001004"],"stats":{"number_of_genes":59,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DKFZP564I122","cblC"],"biotype":"protein_coding","hgnc_id":"HGNC:24525","gene_name":"methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria","omim_gene":["609831"],"alias_name":null,"gene_symbol":"MMACHC","hgnc_symbol":"MMACHC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45965725-45976739","ensembl_id":"ENSG00000132763"}},"GRch38":{"90":{"location":"1:45500053-45513382","ensembl_id":"ENSG00000132763"}}},"hgnc_date_symbol_changed":"2006-01-12"},"entity_type":"gene","entity_name":"MMACHC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28481040"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Methylmalonic aciduria and homocystinuria, cblC type\tMIM#277400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"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":[]},{"gene_data":{"alias":["TMPT27","TPARL","GDT1"],"biotype":"protein_coding","hgnc_id":"HGNC:30760","gene_name":"transmembrane protein 165","omim_gene":["614726"],"alias_name":["TPA regulated locus"],"gene_symbol":"TMEM165","hgnc_symbol":"TMEM165","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:56262124-56319564","ensembl_id":"ENSG00000134851"}},"GRch38":{"90":{"location":"4:55395957-55453397","ensembl_id":"ENSG00000134851"}}},"hgnc_date_symbol_changed":"2006-07-17"},"entity_type":"gene","entity_name":"TMEM165","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Congenital disorder of glycosylation, type IIk, 614727 (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":["beta3GalT6"],"biotype":"protein_coding","hgnc_id":"HGNC:17978","gene_name":"beta-1,3-galactosyltransferase 6","omim_gene":["615291"],"alias_name":["beta-1,3-galactosyltransferase-6"],"gene_symbol":"B3GALT6","hgnc_symbol":"B3GALT6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:1167629-1170421","ensembl_id":"ENSG00000176022"}},"GRch38":{"90":{"location":"1:1232265-1235041","ensembl_id":"ENSG00000176022"}}},"hgnc_date_symbol_changed":"2002-01-09"},"entity_type":"gene","entity_name":"B3GALT6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (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":["hFKBP65","FLJ22041","FKBP6","FLJ20683","FLJ23833"],"biotype":"protein_coding","hgnc_id":"HGNC:18169","gene_name":"FK506 binding protein 10","omim_gene":["607063"],"alias_name":null,"gene_symbol":"FKBP10","hgnc_symbol":"FKBP10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:39968932-39979465","ensembl_id":"ENSG00000141756"}},"GRch38":{"90":{"location":"17:41812680-41823217","ensembl_id":"ENSG00000141756"}}},"hgnc_date_symbol_changed":"2002-03-12"},"entity_type":"gene","entity_name":"FKBP10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Bruck syndrome 1, 259450 (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":["AGAT"],"biotype":"protein_coding","hgnc_id":"HGNC:4175","gene_name":"glycine amidinotransferase","omim_gene":["602360"],"alias_name":["L-arginine:glycine amidinotransferase"],"gene_symbol":"GATM","hgnc_symbol":"GATM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:45653322-45694525","ensembl_id":"ENSG00000171766"}},"GRch38":{"90":{"location":"15:45361124-45402327","ensembl_id":"ENSG00000171766"}}},"hgnc_date_symbol_changed":"1998-02-20"},"entity_type":"gene","entity_name":"GATM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Cerebral creatine deficiency syndrome 3, 612718 (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":["FLJ14566","AGO61"],"biotype":"protein_coding","hgnc_id":"HGNC:25902","gene_name":"protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)","omim_gene":["614828"],"alias_name":null,"gene_symbol":"POMGNT2","hgnc_symbol":"POMGNT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:43120724-43147568","ensembl_id":"ENSG00000144647"}},"GRch38":{"90":{"location":"3:43079232-43106076","ensembl_id":"ENSG00000144647"}}},"hgnc_date_symbol_changed":"2013-08-22"},"entity_type":"gene","entity_name":"POMGNT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (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":["BIGM103"],"biotype":"protein_coding","hgnc_id":"HGNC:20862","gene_name":"solute carrier family 39 member 8","omim_gene":["608732"],"alias_name":null,"gene_symbol":"SLC39A8","hgnc_symbol":"SLC39A8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:103172198-103352415","ensembl_id":"ENSG00000138821"}},"GRch38":{"90":{"location":"4:102251041-102431258","ensembl_id":"ENSG00000138821"}}},"hgnc_date_symbol_changed":"2003-10-08"},"entity_type":"gene","entity_name":"SLC39A8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Congenital disorder of glycosylation, type IIn, 616721 (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":["FLJ23263"],"biotype":"protein_coding","hgnc_id":"HGNC:26262","gene_name":"TELO2 interacting protein 2","omim_gene":["614426"],"alias_name":null,"gene_symbol":"TTI2","hgnc_symbol":"TTI2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:33330904-33371119","ensembl_id":"ENSG00000129696"}},"GRch38":{"90":{"location":"8:33473386-33513601","ensembl_id":"ENSG00000129696"}}},"hgnc_date_symbol_changed":"2011-09-22"},"entity_type":"gene","entity_name":"TTI2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mental retardation, autosomal recessive 39, 615541 (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":["TMTSP"],"biotype":"protein_coding","hgnc_id":"HGNC:17754","gene_name":"thrombospondin type 1 domain containing 1","omim_gene":["616821"],"alias_name":null,"gene_symbol":"THSD1","hgnc_symbol":"THSD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:52951305-52980629","ensembl_id":"ENSG00000136114"}},"GRch38":{"90":{"location":"13:52377167-52406494","ensembl_id":"ENSG00000136114"}}},"hgnc_date_symbol_changed":"2003-01-24"},"entity_type":"gene","entity_name":"THSD1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["27895300"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["subarachnoid hemorrhage"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3144,"hash_id":null,"name":"Cerebral vascular malformations","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes associated with cerebral vascular malformations, including:\r\nVein of Galen malformation\r\nCerebral vascular malformations\r\nMoyamoya disease\r\n\r\nConsider applying the Stroke and Aortopathy_Connective Tissue Disorders panels due to overlap in clinical features.\r\nWith thanks to the Genomics England PanelApp team for the original design.","status":"public","version":"1.12","version_created":"2026-01-22T10:52:30.127872+11:00","relevant_disorders":["Abnormal cerebral vascular morphology HP:0100659"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DAZH","SPGYLA","MGC26406","DAZL1"],"biotype":"protein_coding","hgnc_id":"HGNC:2685","gene_name":"deleted in azoospermia like","omim_gene":["601486"],"alias_name":null,"gene_symbol":"DAZL","hgnc_symbol":"DAZL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:16628299-16711813","ensembl_id":"ENSG00000092345"}},"GRch38":{"90":{"location":"3:16586792-16670306","ensembl_id":"ENSG00000092345"}}},"hgnc_date_symbol_changed":"1997-04-25"},"entity_type":"gene","entity_name":"DAZL","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["34794894","33095795","16884537","9288969"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Primary ovarian failure, MONDO:0005387, DAZL-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.414","version_created":"2026-04-13T17:24:24.650771+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5173","gene_name":"HRas proto-oncogene, GTPase","omim_gene":["190020"],"alias_name":null,"gene_symbol":"HRAS","hgnc_symbol":"HRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:532242-537287","ensembl_id":"ENSG00000174775"}},"GRch38":{"90":{"location":"11:532242-537287","ensembl_id":"ENSG00000174775"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HRAS","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":["16170316","16969868","16443854","21396583"],"evidence":["South West GLH","NHS GMS","Expert Review Green","Expert List","London South GLH"],"phenotypes":["Costello syndrome","syndromic HCM"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7881","gene_name":"notch 1","omim_gene":["190198"],"alias_name":null,"gene_symbol":"NOTCH1","hgnc_symbol":"NOTCH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139388896-139440314","ensembl_id":"ENSG00000148400"}},"GRch38":{"90":{"location":"9:136494444-136545862","ensembl_id":"ENSG00000148400"}}},"hgnc_date_symbol_changed":"1992-02-13"},"entity_type":"gene","entity_name":"NOTCH1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Aortic valve disease"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MiRP2","HOKPP"],"biotype":"protein_coding","hgnc_id":"HGNC:6243","gene_name":"potassium voltage-gated channel subfamily E regulatory subunit 3","omim_gene":["604433"],"alias_name":null,"gene_symbol":"KCNE3","hgnc_symbol":"KCNE3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:74165886-74178774","ensembl_id":"ENSG00000175538"}},"GRch38":{"90":{"location":"11:74454841-74467729","ensembl_id":"ENSG00000175538"}}},"hgnc_date_symbol_changed":"1999-05-11"},"entity_type":"gene","entity_name":"KCNE3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Brugada syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp686J0811"],"biotype":"protein_coding","hgnc_id":"HGNC:25396","gene_name":"FRAS1 related extracellular matrix protein 2","omim_gene":["608945"],"alias_name":null,"gene_symbol":"FREM2","hgnc_symbol":"FREM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:39261266-39460074","ensembl_id":"ENSG00000150893"}},"GRch38":{"90":{"location":"13:38687129-38887131","ensembl_id":"ENSG00000150893"}}},"hgnc_date_symbol_changed":"2004-12-15"},"entity_type":"gene","entity_name":"FREM2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Fraser 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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2711","gene_name":"dynactin subunit 1","omim_gene":["601143"],"alias_name":["p150 glued homolog (Drosophila)"],"gene_symbol":"DCTN1","hgnc_symbol":"DCTN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74588281-74619214","ensembl_id":"ENSG00000204843"}},"GRch38":{"90":{"location":"2:74361154-74392087","ensembl_id":"ENSG00000204843"}}},"hgnc_date_symbol_changed":"1995-10-03"},"entity_type":"gene","entity_name":"DCTN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Amyotrophic lateral sclerosis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["B120","P270","C10rf4","BAF250","BAF250a"],"biotype":"protein_coding","hgnc_id":"HGNC:11110","gene_name":"AT-rich interaction domain 1A","omim_gene":["603024"],"alias_name":null,"gene_symbol":"ARID1A","hgnc_symbol":"ARID1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:27022524-27108595","ensembl_id":"ENSG00000117713"}},"GRch38":{"90":{"location":"1:26693236-26782104","ensembl_id":"ENSG00000117713"}}},"hgnc_date_symbol_changed":"2004-01-30"},"entity_type":"gene","entity_name":"ARID1A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Coffin-Siris syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2040","gene_name":"claudin 19","omim_gene":["610036"],"alias_name":null,"gene_symbol":"CLDN19","hgnc_symbol":"CLDN19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:43198764-43205925","ensembl_id":"ENSG00000164007"}},"GRch38":{"90":{"location":"1:42733093-42740254","ensembl_id":"ENSG00000164007"}}},"hgnc_date_symbol_changed":"2000-03-15"},"entity_type":"gene","entity_name":"CLDN19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Hypomagnesemia 5, renal, with ocular involvement"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2979","gene_name":"DNA methyltransferase 3 beta","omim_gene":["602900"],"alias_name":null,"gene_symbol":"DNMT3B","hgnc_symbol":"DNMT3B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:31350191-31397162","ensembl_id":"ENSG00000088305"}},"GRch38":{"90":{"location":"20:32762385-32809356","ensembl_id":"ENSG00000088305"}}},"hgnc_date_symbol_changed":"1998-07-15"},"entity_type":"gene","entity_name":"DNMT3B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Immunodeficiency-centromeric instability-facial anomalies syndrome 1"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2183","gene_name":"vacuolar protein sorting 13 homolog B","omim_gene":["607817"],"alias_name":null,"gene_symbol":"VPS13B","hgnc_symbol":"VPS13B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:100025494-100889808","ensembl_id":"ENSG00000132549"}},"GRch38":{"90":{"location":"8:99013266-99877580","ensembl_id":"ENSG00000132549"}}},"hgnc_date_symbol_changed":"2005-04-08"},"entity_type":"gene","entity_name":"VPS13B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Cohen 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":["CMH10"],"biotype":"protein_coding","hgnc_id":"HGNC:7583","gene_name":"myosin light chain 2","omim_gene":["160781"],"alias_name":["cardiac ventricular myosin light chain 2"],"gene_symbol":"MYL2","hgnc_symbol":"MYL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:111348623-111358526","ensembl_id":"ENSG00000111245"}},"GRch38":{"90":{"location":"12:110910819-110920722","ensembl_id":"ENSG00000111245"}}},"hgnc_date_symbol_changed":"1991-11-21"},"entity_type":"gene","entity_name":"MYL2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category B gene"],"phenotypes":["Cardiomyopathy, familial hypertrophic, 10"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DXS8237E","KIAA0122","GPATC9","ZRANB5","GPATCH9"],"biotype":"protein_coding","hgnc_id":"HGNC:9896","gene_name":"RNA binding motif protein 10","omim_gene":["300080"],"alias_name":null,"gene_symbol":"RBM10","hgnc_symbol":"RBM10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:47004268-47046212","ensembl_id":"ENSG00000182872"}},"GRch38":{"90":{"location":"X:47144869-47186813","ensembl_id":"ENSG00000182872"}}},"hgnc_date_symbol_changed":"2000-02-21"},"entity_type":"gene","entity_name":"RBM10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20451169","24259342","30450804","30189253","33340101"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["TARP syndrome, MIM# 311900"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["POLE1"],"biotype":"protein_coding","hgnc_id":"HGNC:9177","gene_name":"DNA polymerase epsilon, catalytic subunit","omim_gene":["174762"],"alias_name":["DNA polymerase epsilon catalytic subunit A"],"gene_symbol":"POLE","hgnc_symbol":"POLE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:133200348-133263951","ensembl_id":"ENSG00000177084"}},"GRch38":{"90":{"location":"12:132623753-132687365","ensembl_id":"ENSG00000177084"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30503519","23230001","25948378"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["FILS syndrome, MIM# 615139","IMAGE-I syndrome, MIM# 618336"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deep intronic"],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ADAM-TS10"],"biotype":"protein_coding","hgnc_id":"HGNC:13201","gene_name":"ADAM metallopeptidase with thrombospondin type 1 motif 10","omim_gene":["608990"],"alias_name":null,"gene_symbol":"ADAMTS10","hgnc_symbol":"ADAMTS10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:8645126-8675620","ensembl_id":"ENSG00000142303"}},"GRch38":{"90":{"location":"19:8580242-8610735","ensembl_id":"ENSG00000142303"}}},"hgnc_date_symbol_changed":"2001-04-05"},"entity_type":"gene","entity_name":"ADAMTS10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":["Weill-Marchesani syndrome 1, recessive, 277600"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3729,"hash_id":null,"name":"Hand and foot malformations","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.","status":"public","version":"0.89","version_created":"2026-04-07T13:49:34.993963+10:00","relevant_disorders":["Abnormal hand morphology","HP:0005922; Abnormal foot morphology","HP:0001760"],"stats":{"number_of_genes":101,"number_of_strs":1,"number_of_regions":5},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CT118"],"biotype":"protein_coding","hgnc_id":"HGNC:14415","gene_name":"ELOVL fatty acid elongase 4","omim_gene":["605512"],"alias_name":["cancer/testis antigen 118"],"gene_symbol":"ELOVL4","hgnc_symbol":"ELOVL4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:80624529-80657297","ensembl_id":"ENSG00000118402"}},"GRch38":{"90":{"location":"6:79914812-79947580","ensembl_id":"ENSG00000118402"}}},"hgnc_date_symbol_changed":"2001-01-18"},"entity_type":"gene","entity_name":"ELOVL4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24566826","26258735","30065956","22100072","24571530","33652762","10634627","8002834"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Ichthyosis, spastic quadriplegia, and mental retardation MIM#614457"],"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":["LERK4"],"biotype":"protein_coding","hgnc_id":"HGNC:3224","gene_name":"ephrin A4","omim_gene":["601380"],"alias_name":null,"gene_symbol":"EFNA4","hgnc_symbol":"EFNA4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:155036207-155042029","ensembl_id":"ENSG00000243364"}},"GRch38":{"90":{"location":"1:155063731-155069553","ensembl_id":"ENSG00000243364"}}},"hgnc_date_symbol_changed":"1995-01-17"},"entity_type":"gene","entity_name":"EFNA4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["16540516","19201948","19772933","23983218","29168297","29215649","33065355","34586326","36140816"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Craniosynostosis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":["20301575","10094191"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert Review","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anaemia, complementation group A, MIM# 227650","MONDO:0009215"],"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":["SCEH"],"biotype":"protein_coding","hgnc_id":"HGNC:3151","gene_name":"enoyl-CoA hydratase, short chain 1","omim_gene":["602292"],"alias_name":["short chain enoyl-CoA hydratase"],"gene_symbol":"ECHS1","hgnc_symbol":"ECHS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:135175984-135187193","ensembl_id":"ENSG00000127884"}},"GRch38":{"90":{"location":"10:133362480-133373689","ensembl_id":"ENSG00000127884"}}},"hgnc_date_symbol_changed":"1996-12-17"},"entity_type":"gene","entity_name":"ECHS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32642440"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (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":["OIP2","RRP43","bA421P11.3","Rrp43p","EAP2","p9","CIP3"],"biotype":"protein_coding","hgnc_id":"HGNC:17035","gene_name":"exosome component 8","omim_gene":["606019"],"alias_name":["CBP-interacting protein 3","Opa interacting protein 2"],"gene_symbol":"EXOSC8","hgnc_symbol":"EXOSC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:37572953-37583750","ensembl_id":"ENSG00000120699"}},"GRch38":{"90":{"location":"13:36998816-37009613","ensembl_id":"ENSG00000120699"}}},"hgnc_date_symbol_changed":"2004-03-26"},"entity_type":"gene","entity_name":"EXOSC8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["38017281"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Pontocerebellar hypoplasia, type 1C, 616081 (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":[],"biotype":"protein_coding","hgnc_id":"HGNC:7897","gene_name":"NPC intracellular cholesterol transporter 1","omim_gene":["607623"],"alias_name":null,"gene_symbol":"NPC1","hgnc_symbol":"NPC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:21086148-21166862","ensembl_id":"ENSG00000141458"}},"GRch38":{"90":{"location":"18:23506184-23586898","ensembl_id":"ENSG00000141458"}}},"hgnc_date_symbol_changed":"1993-04-13"},"entity_type":"gene","entity_name":"NPC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26910362","11333381"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Niemann-Pick disease, type C1, MIM#257220"],"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":["KIAA0441","BIF1","PATZ2"],"biotype":"protein_coding","hgnc_id":"HGNC:21143","gene_name":"zinc finger and BTB domain containing 24","omim_gene":["614064"],"alias_name":["POZ (BTB) and AT hook containing zinc finger 2"],"gene_symbol":"ZBTB24","hgnc_symbol":"ZBTB24","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:109783797-109804440","ensembl_id":"ENSG00000112365"}},"GRch38":{"90":{"location":"6:109462594-109483237","ensembl_id":"ENSG00000112365"}}},"hgnc_date_symbol_changed":"2004-04-16"},"entity_type":"gene","entity_name":"ZBTB24","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23486536"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069","MONDO:0013553"],"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":["BEY2","EYCL","BEY","BEY1"],"biotype":"protein_coding","hgnc_id":"HGNC:8101","gene_name":"OCA2 melanosomal transmembrane protein","omim_gene":["611409"],"alias_name":["melanocyte-specific transporter protein","P-protein"],"gene_symbol":"OCA2","hgnc_symbol":"OCA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:28000021-28344504","ensembl_id":"ENSG00000104044"}},"GRch38":{"90":{"location":"15:27754875-28099358","ensembl_id":"ENSG00000104044"}}},"hgnc_date_symbol_changed":"1993-02-05"},"entity_type":"gene","entity_name":"OCA2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Albinism, brown oculocutaneous, MIM# 203200","Albinism, oculocutaneous, type II, MIM# 203200"],"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":["LAT1"],"biotype":"protein_coding","hgnc_id":"HGNC:18874","gene_name":"linker for activation of T-cells","omim_gene":["602354"],"alias_name":["linker for activation of T cells, transmembrane adaptor"],"gene_symbol":"LAT","hgnc_symbol":"LAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:28996147-29002104","ensembl_id":"ENSG00000213658"}},"GRch38":{"90":{"location":"16:28984826-28990783","ensembl_id":"ENSG00000213658"}}},"hgnc_date_symbol_changed":"2002-07-12"},"entity_type":"gene","entity_name":"LAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency 52, MIM# 617514"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TSP1","THBS","TSP","THBS-1","TSP-1"],"biotype":"protein_coding","hgnc_id":"HGNC:11785","gene_name":"thrombospondin 1","omim_gene":["188060"],"alias_name":["thrombospondin-1p180"],"gene_symbol":"THBS1","hgnc_symbol":"THBS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:39873280-39891667","ensembl_id":"ENSG00000137801"}},"GRch38":{"90":{"location":"15:39581079-39599466","ensembl_id":"ENSG00000137801"}}},"hgnc_date_symbol_changed":"1989-10-10"},"entity_type":"gene","entity_name":"THBS1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Pulmonary hypertension"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5099","gene_name":"homeobox A1","omim_gene":["142955"],"alias_name":null,"gene_symbol":"HOXA1","hgnc_symbol":"HOXA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:27132612-27135615","ensembl_id":"ENSG00000105991"}},"GRch38":{"90":{"location":"7:27092993-27095996","ensembl_id":"ENSG00000105991"}}},"hgnc_date_symbol_changed":"1990-06-15"},"entity_type":"gene","entity_name":"HOXA1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Athabaskan brainstem dysgenesis syndrome"],"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":["EIF-2Balpha","EIF-2B","EIF2BA"],"biotype":"protein_coding","hgnc_id":"HGNC:3257","gene_name":"eukaryotic translation initiation factor 2B subunit alpha","omim_gene":["606686"],"alias_name":null,"gene_symbol":"EIF2B1","hgnc_symbol":"EIF2B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:124104953-124118313","ensembl_id":"ENSG00000111361"}},"GRch38":{"90":{"location":"12:123620406-123633766","ensembl_id":"ENSG00000111361"}}},"hgnc_date_symbol_changed":"1991-03-04"},"entity_type":"gene","entity_name":"EIF2B1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Leukoencephalopathy with vanishing white matter"],"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":["ARGP1"],"biotype":"protein_coding","hgnc_id":"HGNC:2843","gene_name":"diacylglycerol O-acyltransferase 1","omim_gene":["604900"],"alias_name":null,"gene_symbol":"DGAT1","hgnc_symbol":"DGAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:145539954-145550573","ensembl_id":"ENSG00000185000"}},"GRch38":{"90":{"location":"8:144314584-144326910","ensembl_id":"ENSG00000185000"}}},"hgnc_date_symbol_changed":"2001-11-09"},"entity_type":"gene","entity_name":"DGAT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33261563","32786057","31778854","28373485","29604290","31778854"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Diarrhoea 7, protein-losing enteropathy type, MIM# 615863","congenital diarrhea 7 with exudative enteropathy MONDO:0014375"],"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":["TNSALP"],"biotype":"protein_coding","hgnc_id":"HGNC:438","gene_name":"alkaline phosphatase, liver/bone/kidney","omim_gene":["171760"],"alias_name":null,"gene_symbol":"ALPL","hgnc_symbol":"ALPL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:21835858-21904905","ensembl_id":"ENSG00000162551"}},"GRch38":{"90":{"location":"1:21509372-21578412","ensembl_id":"ENSG00000162551"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ALPL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19500388","23688511","32029969","24569605"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hypophosphatasia, childhood (MIM#241510)","Hypophosphatasia, infantile (MIM#241500)"],"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":["EBP"],"biotype":"protein_coding","hgnc_id":"HGNC:4298","gene_name":"galactosidase beta 1","omim_gene":["611458"],"alias_name":null,"gene_symbol":"GLB1","hgnc_symbol":"GLB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:33038100-33138722","ensembl_id":"ENSG00000170266"}},"GRch38":{"90":{"location":"3:32996608-33097230","ensembl_id":"ENSG00000170266"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"GLB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34539759","24156116","16941474","17309651","25936995","32219518","1928092","33558080","10841810"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["GM1-gangliosidosis, type I MIM#230500","GM1-gangliosidosis, type II MIM#230600","GM1-gangliosidosis, type III MIM#230650","Mucopolysaccharidosis type IVB (Morquio) MIM#253010"],"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":["KIAA1505"],"biotype":"protein_coding","hgnc_id":"HGNC:29296","gene_name":"coiled-coil domain containing 146","omim_gene":null,"alias_name":null,"gene_symbol":"CCDC146","hgnc_symbol":"CCDC146","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:76751751-76958850","ensembl_id":"ENSG00000135205"}},"GRch38":{"90":{"location":"7:77122434-77329533","ensembl_id":"ENSG00000135205"}}},"hgnc_date_symbol_changed":"2007-12-06"},"entity_type":"gene","entity_name":"CCDC146","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["38441556","39245651"],"evidence":["Literature","Expert Review Green","Expert Review Green","Literature"],"phenotypes":["spermatogenic failure MONDO:0004983"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.146","version_created":"2026-04-20T19:07:38.334107+10:00","relevant_disorders":[],"stats":{"number_of_genes":266,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]}]}