{"count":36039,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=263","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=261","results":[{"gene_data":{"alias":["PKBG","RAC-gamma","PRKBG"],"biotype":"protein_coding","hgnc_id":"HGNC:393","gene_name":"AKT serine/threonine kinase 3","omim_gene":["611223"],"alias_name":["protein kinase B, gamma"],"gene_symbol":"AKT3","hgnc_symbol":"AKT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:243651535-244014381","ensembl_id":"ENSG00000117020"}},"GRch38":{"90":{"location":"1:243488233-243851079","ensembl_id":"ENSG00000117020"}}},"hgnc_date_symbol_changed":"1999-11-16"},"entity_type":"gene","entity_name":"AKT3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28969385"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":["Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":18,"hash_id":null,"name":"Polymicrogyria and Schizencephaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nPlease consider the broader 'Malformations of cortical development' superpanel, particularly in the presence of complex or atypical imaging findings.","status":"public","version":"0.204","version_created":"2025-12-18T09:49:46.643708+11:00","relevant_disorders":["Polymicrogyria","HP:0002126;Schizencephaly","HP:0010636"],"stats":{"number_of_genes":88,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"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:2475","gene_name":"cystatin C","omim_gene":["604312"],"alias_name":null,"gene_symbol":"CST3","hgnc_symbol":"CST3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:23608534-23619110","ensembl_id":"ENSG00000101439"}},"GRch38":{"90":{"location":"20:23626706-23638473","ensembl_id":"ENSG00000101439"}}},"hgnc_date_symbol_changed":"1990-02-06"},"entity_type":"gene","entity_name":"CST3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["38489591"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy, MIM#621214"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":40,"hash_id":null,"name":"Alternating Hemiplegia and Hemiplegic Migraine","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH.\r\n\r\nPlease also refer to the Episodic Ataxia and Paroxysmal Dyskinesia panels.","status":"public","version":"1.0","version_created":"2026-03-24T16:22:18.980474+11:00","relevant_disorders":["Hemiplegia","HP:0002301;Migraine","HP:0002076"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC16824"],"biotype":"protein_coding","hgnc_id":"HGNC:24641","gene_name":"chromosome 16 open reading frame 62","omim_gene":null,"alias_name":null,"gene_symbol":"C16orf62","hgnc_symbol":"C16orf62","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:19566562-19718115","ensembl_id":"ENSG00000103544"}},"GRch38":{"90":{"location":"16:19555240-19706793","ensembl_id":"ENSG00000103544"}}},"hgnc_date_symbol_changed":"2007-10-22"},"entity_type":"gene","entity_name":"C16orf62","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["25434475","31712251"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":42,"hash_id":null,"name":"Anophthalmia_Microphthalmia_Coloboma","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with isolated and syndromic anophthalmia, microphthalmia and coloboma.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Anophthalmia or Microphthalmia' v1.31 and 'Ocular coloboma' v1.38 panels, with discrepancies reviewed and reciprocal feedback provided to Genomics England.","status":"public","version":"1.57","version_created":"2026-03-03T11:23:37.804849+11:00","relevant_disorders":["Anophthalmia","HP:0000528;Microphthalmia","HP:0000568;Coloboma","HP:0000589"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CMPD4","FLJ32040","TMD","CMH9","LGMD2J","MYLK5"],"biotype":"protein_coding","hgnc_id":"HGNC:12403","gene_name":"titin","omim_gene":["188840"],"alias_name":null,"gene_symbol":"TTN","hgnc_symbol":"TTN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:179390716-179695529","ensembl_id":"ENSG00000155657"}},"GRch38":{"90":{"location":"2:178525989-178830802","ensembl_id":"ENSG00000155657"}}},"hgnc_date_symbol_changed":"1991-06-07"},"entity_type":"gene","entity_name":"TTN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24105469","31660661","29575618","28040389"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Salih myopathy","Muscular dystrophy, limb-girdle, autosomal recessive 10"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7216","gene_name":"mannose phosphate isomerase","omim_gene":["154550"],"alias_name":["mannose-6-phosphate isomerase"],"gene_symbol":"MPI","hgnc_symbol":"MPI","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:75182346-75191798","ensembl_id":"ENSG00000178802"}},"GRch38":{"90":{"location":"15:74890005-74902219","ensembl_id":"ENSG00000178802"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MPI","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["12414827","9585601","10980531","33098580","33204592","32905087","32266963","30242110"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Congenital disorder of glycosylation, type Ib, MIM# 602579","MPI-CDG MONDO:0011257"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":54,"hash_id":null,"name":"Bleeding and Platelet Disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with coagulation, platelet and blood vessel disorders that predispose to bleeding and to thrombosis.","status":"public","version":"1.77","version_created":"2026-04-08T12:32:35.286494+10:00","relevant_disorders":["Abnormal bleeding","HP:0001892;Abnormal thrombosis","HP:0001977"],"stats":{"number_of_genes":140,"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":["WIP"],"biotype":"protein_coding","hgnc_id":"HGNC:12736","gene_name":"WAS/WASL interacting protein family member 1","omim_gene":["602357"],"alias_name":null,"gene_symbol":"WIPF1","hgnc_symbol":"WIPF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:175424300-175547644","ensembl_id":"ENSG00000115935"}},"GRch38":{"90":{"location":"2:174559572-174682916","ensembl_id":"ENSG00000115935"}}},"hgnc_date_symbol_changed":"2006-10-12"},"entity_type":"gene","entity_name":"WIPF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27742395","11869681","22231303","14757742","9405671"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Wiskott-Aldrich syndrome 2, MIM#\t614493"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":54,"hash_id":null,"name":"Bleeding and Platelet Disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with coagulation, platelet and blood vessel disorders that predispose to bleeding and to thrombosis.","status":"public","version":"1.77","version_created":"2026-04-08T12:32:35.286494+10:00","relevant_disorders":["Abnormal bleeding","HP:0001892;Abnormal thrombosis","HP:0001977"],"stats":{"number_of_genes":140,"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":["MGC20461"],"biotype":"protein_coding","hgnc_id":"HGNC:8506","gene_name":"oncostatin M","omim_gene":["165095"],"alias_name":null,"gene_symbol":"OSM","hgnc_symbol":"OSM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:30658818-30662829","ensembl_id":"ENSG00000099985"}},"GRch38":{"90":{"location":"22:30262829-30266840","ensembl_id":"ENSG00000099985"}}},"hgnc_date_symbol_changed":"1992-07-09"},"entity_type":"gene","entity_name":"OSM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39847438","40309776","17118758"],"evidence":["Expert Review Green","Literature"],"phenotypes":["bone marrow failure syndrome MONDO:0000159"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:24063","gene_name":"galactose mutarotase","omim_gene":["137030"],"alias_name":["aldose 1-epimerase","aldose mutarotase","galactomutarotase"],"gene_symbol":"GALM","hgnc_symbol":"GALM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:38893052-38968379","ensembl_id":"ENSG00000143891"}},"GRch38":{"90":{"location":"2:38665910-38741237","ensembl_id":"ENSG00000143891"}}},"hgnc_date_symbol_changed":"2004-01-13"},"entity_type":"gene","entity_name":"GALM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30451973","30910422"],"evidence":["Expert Review Green","Literature"],"phenotypes":["galactosaemia","type IV galactosaemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:33185","gene_name":"developing brain homeobox 1","omim_gene":null,"alias_name":null,"gene_symbol":"DBX1","hgnc_symbol":"DBX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:20177701-20182159","ensembl_id":"ENSG00000109851"}},"GRch38":{"90":{"location":"11:20156155-20160613","ensembl_id":"ENSG00000109851"}}},"hgnc_date_symbol_changed":"2007-03-14"},"entity_type":"gene","entity_name":"DBX1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40995053"],"evidence":["Expert Review Red","Literature"],"phenotypes":["central hypoventilation syndrome, congenital MONDO:0800031"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":71,"hash_id":null,"name":"Central Hypoventilation","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS.\r\n\r\nMore than 90% of individuals with congenital central hypoventilation syndrome have variants in the PHOX2B gene, most commonly an expansion of the polyalanine tract, which may not be tractable by all NGS assays.","status":"public","version":"1.7","version_created":"2026-01-04T18:41:11.422790+11:00","relevant_disorders":["Central hypoventilation HP:0007110"],"stats":{"number_of_genes":12,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"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"],"phenotypes":["Fanconi anemia, complementation group Q, MIM# 615272","MONDO:0014108","Xeroderma pigmentosum, group F, MIM# 278760","MONDO:0010215","XFE progeroid syndrome, MIM# 610965","MONDO:0012590"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":79,"hash_id":null,"name":"Chromosome Breakage Disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created and is maintained by VCGS.\r\n\r\nChromosomal instability syndromes are a group of inherited disorders associated with chromosomal instability and breakage either spontaneously or in response to DNA damaging agents. They include ataxia telangiectasia, Bloom syndrome, Fanconi anaemia, Nijmegen breakage syndrome, immunodeficiency/centromeric instability/facial anomalies syndrome, Cockayne syndrome, trichothiodystrophy, xeroderma pigmentosum, DNA ligase I deficiency, and DNA recombinase repair defects.\r\n\r\nTypical features include impairment of growth, immunodeficiency, predisposition to infectious disease, and the risk of developing certain types of malignancies.","status":"public","version":"1.24","version_created":"2025-10-16T15:58:38.818741+11:00","relevant_disorders":["Chromosome breakage HP:0040012"],"stats":{"number_of_genes":60,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ENaCgamma","SCNEG"],"biotype":"protein_coding","hgnc_id":"HGNC:10602","gene_name":"sodium channel epithelial 1 gamma subunit","omim_gene":["600761"],"alias_name":null,"gene_symbol":"SCNN1G","hgnc_symbol":"SCNN1G","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:23194036-23228204","ensembl_id":"ENSG00000166828"}},"GRch38":{"90":{"location":"16:23182715-23216883","ensembl_id":"ENSG00000166828"}}},"hgnc_date_symbol_changed":"1995-05-10"},"entity_type":"gene","entity_name":"SCNN1G","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["22207244","31655555","30801930","28484659"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["Bronchiectasis with or without elevated sweat chloride 3 (MIM#613071)","Liddle syndrome 2 (MIM#618114)","Pseudohypoaldosteronism, type I (MIM#264350)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":84,"hash_id":null,"name":"Ciliopathies","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9475","gene_name":"protease, serine 1","omim_gene":["276000"],"alias_name":null,"gene_symbol":"PRSS1","hgnc_symbol":"PRSS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:142457319-142460923","ensembl_id":"ENSG00000204983"}},"GRch38":{"90":{"location":"7:142749468-142753076","ensembl_id":"ENSG00000204983"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PRSS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22379635"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Pancreatitis, hereditary, MIM# 167800"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":89,"hash_id":null,"name":"Congenital Diarrhoea","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nCongenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. Severe chronic diarrhoea may be the main clinical manifestation or it may be a component of a more complex multi-organ or systemic disease.\r\n\r\nCDDs can be classified in four groups: (i) defects of digestion, absorption and transport of nutrients and electrolytes; (ii) defects of enterocyte differentiation and polarisation; (iii) defects of enteroendocrine cell differentiation; (iv) defects of modulation of intestinal immune response.","status":"public","version":"1.30","version_created":"2025-11-20T10:28:34.792243+11:00","relevant_disorders":["Diarrhea HP:0002014"],"stats":{"number_of_genes":46,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DRE1","FLJ20059"],"biotype":"protein_coding","hgnc_id":"HGNC:25947","gene_name":"kelch like family member 24","omim_gene":["611295"],"alias_name":null,"gene_symbol":"KLHL24","hgnc_symbol":"KLHL24","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:183353356-183402265","ensembl_id":"ENSG00000114796"}},"GRch38":{"90":{"location":"3:183635568-183684477","ensembl_id":"ENSG00000114796"}}},"hgnc_date_symbol_changed":"2005-09-10"},"entity_type":"gene","entity_name":"KLHL24","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27889062","27798626"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy MIM# 617294"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":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":"","publications":["30681346"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"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":111,"hash_id":null,"name":"Hypertrophic cardiomyopathy","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes associated with hypertrophic cardiomyopathy or isolated left ventricular hypertrophy (including sarcomere, sarcomere-associated and syndromic conditions), typically with onset in adolescence or adulthood. For early-onset hypertrophic cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel was developed by VCGS and is maintained by VCGS and RMH. It has been compared against the Genomics England 'Hypertrophic Cardiomyopathy  - teen and adult' panel and incorporates gene-disease validity assessments by the ClinGen HCM working group (PMID: 30681346), 5/8/2020 and Hereditary Cardiovascular Disorders Gene Curation Expert Panel (PMID: 39132495).","status":"public","version":"1.25","version_created":"2026-03-11T18:45:28.302854+11:00","relevant_disorders":["Hypertrophic cardiomyopathy","HP:0001639"],"stats":{"number_of_genes":64,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GRB1","p85-ALPHA","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8979","gene_name":"phosphoinositide-3-kinase regulatory subunit 1","omim_gene":["171833"],"alias_name":["phosphoinositide-3-kinase regulatory subunit alpha"],"gene_symbol":"PIK3R1","hgnc_symbol":"PIK3R1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:67511548-67597649","ensembl_id":"ENSG00000145675"}},"GRch38":{"90":{"location":"5:68215720-68301821","ensembl_id":"ENSG00000145675"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32439336","28472977","26974159","24886349","24830046"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["SHORT syndrome, MIM# 269880","Lipodystrophy","insulin resistance"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NY-CO-8","CCCAP","SLSN7","NPHP10","BBS16"],"biotype":"protein_coding","hgnc_id":"HGNC:10671","gene_name":"serologically defined colon cancer antigen 8","omim_gene":["613524"],"alias_name":["centrosomal colon cancer autoantigen protein","Bardet-Biedl syndrome 16","nephrocystin 10","Senior-Loken syndrome 7"],"gene_symbol":"SDCCAG8","hgnc_symbol":"SDCCAG8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:243419320-243663394","ensembl_id":"ENSG00000054282"}},"GRch38":{"90":{"location":"1:243256034-243500092","ensembl_id":"ENSG00000054282"}}},"hgnc_date_symbol_changed":"1999-08-25"},"entity_type":"gene","entity_name":"SDCCAG8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20835237","22626039","22626039","32432520","31534065","26968886"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bardet-Biedl syndrome 16, MIM# 615993","MONDO:0014444","Senior-Loken syndrome 7, MIM# 613615","MONDO:0013326","Nephronophthisis"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:359","gene_name":"aryl hydrocarbon receptor interacting protein like 1","omim_gene":["604392"],"alias_name":null,"gene_symbol":"AIPL1","hgnc_symbol":"AIPL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:6297013-6338519","ensembl_id":"ENSG00000129221"}},"GRch38":{"90":{"location":"17:6393693-6435199","ensembl_id":"ENSG00000129221"}}},"hgnc_date_symbol_changed":"1999-03-18"},"entity_type":"gene","entity_name":"AIPL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10615133"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Leber congenital amaurosis 4, 604393","Cone-rod dystrophy, 604393","Retinitis pigmentosa, juvenile, 604393"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P450SCC"],"biotype":"protein_coding","hgnc_id":"HGNC:2590","gene_name":"cytochrome P450 family 11 subfamily A member 1","omim_gene":["118485"],"alias_name":["cholesterol monooxygenase (side-chain-cleaving)"],"gene_symbol":"CYP11A1","hgnc_symbol":"CYP11A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:74630100-74660081","ensembl_id":"ENSG00000140459"}},"GRch38":{"90":{"location":"15:74337759-74367740","ensembl_id":"ENSG00000140459"}}},"hgnc_date_symbol_changed":"2003-01-17"},"entity_type":"gene","entity_name":"CYP11A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12161514","16705068","18182448","28425981"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ERAB","MHBD","17b-HSD10","ABAD","SDR5C1","MRPP2","CAMR"],"biotype":"protein_coding","hgnc_id":"HGNC:4800","gene_name":"hydroxysteroid 17-beta dehydrogenase 10","omim_gene":["300256"],"alias_name":["type 10 17b-HSD","type 10 17beta-hydroxysteroid dehydrogenase","AB-binding alcohol dehydrogenase","short chain dehydrogenase/reductase family 5C, member 1","mitochondrial RNase P subunit 2"],"gene_symbol":"HSD17B10","hgnc_symbol":"HSD17B10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:53458206-53461320","ensembl_id":"ENSG00000072506"}},"GRch38":{"90":{"location":"X:53431258-53434373","ensembl_id":"ENSG00000072506"}}},"hgnc_date_symbol_changed":"2006-11-22"},"entity_type":"gene","entity_name":"HSD17B10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["HSD10 mitochondrial disease, MIM# 300438"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NFI-RED","NFIB2","NFIB3"],"biotype":"protein_coding","hgnc_id":"HGNC:7785","gene_name":"nuclear factor I B","omim_gene":["600728"],"alias_name":null,"gene_symbol":"NFIB","hgnc_symbol":"NFIB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:14081842-14398982","ensembl_id":"ENSG00000147862"}},"GRch38":{"90":{"location":"9:14081843-14398983","ensembl_id":"ENSG00000147862"}}},"hgnc_date_symbol_changed":"1995-03-09"},"entity_type":"gene","entity_name":"NFIB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30388402"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Macrocephaly, acquired, with impaired intellectual development, MIM#618286"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DAX1","AHCH"],"biotype":"protein_coding","hgnc_id":"HGNC:7960","gene_name":"nuclear receptor subfamily 0 group B member 1","omim_gene":["300473"],"alias_name":null,"gene_symbol":"NR0B1","hgnc_symbol":"NR0B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:30322323-30327715","ensembl_id":"ENSG00000169297"}},"GRch38":{"90":{"location":"X:30304206-30309598","ensembl_id":"ENSG00000169297"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"NR0B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19508677","26030781"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Adrenal hypoplasia, congenital (MIM# 300200)","46XY sex reversal 2, dosage-sensitive, MIM#\t300018"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["SV/CNV"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FRAG1","CWH43-N"],"biotype":"protein_coding","hgnc_id":"HGNC:17893","gene_name":"post-GPI attachment to proteins 2","omim_gene":["615187"],"alias_name":["FGF receptor activating protein 1","cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"],"gene_symbol":"PGAP2","hgnc_symbol":"PGAP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:3818954-3847601","ensembl_id":"ENSG00000148985"}},"GRch38":{"90":{"location":"11:3797724-3826371","ensembl_id":"ENSG00000148985"}}},"hgnc_date_symbol_changed":"2009-06-18"},"entity_type":"gene","entity_name":"PGAP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23561846","23561847","31805394","29119105","27871432"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SAP49","SF3b49","Hsh49"],"biotype":"protein_coding","hgnc_id":"HGNC:10771","gene_name":"splicing factor 3b subunit 4","omim_gene":["605593"],"alias_name":null,"gene_symbol":"SF3B4","hgnc_symbol":"SF3B4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:149895209-149900236","ensembl_id":"ENSG00000143368"}},"GRch38":{"90":{"location":"1:149923317-149928344","ensembl_id":"ENSG00000143368"}}},"hgnc_date_symbol_changed":"2000-02-29"},"entity_type":"gene","entity_name":"SF3B4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22541558","23568615","24003905"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Acrofacial dysostosis 1, Nager type, MIM# 154400"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12801","gene_name":"X-box binding protein 1","omim_gene":["194355"],"alias_name":null,"gene_symbol":"XBP1","hgnc_symbol":"XBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:29190543-29196585","ensembl_id":"ENSG00000100219"}},"GRch38":{"90":{"location":"22:28794555-28800597","ensembl_id":"ENSG00000100219"}}},"hgnc_date_symbol_changed":"1992-02-13"},"entity_type":"gene","entity_name":"XBP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["32294597","33325615"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0211","CAMOS"],"biotype":"protein_coding","hgnc_id":"HGNC:28986","gene_name":"zinc finger protein 592","omim_gene":["613624"],"alias_name":null,"gene_symbol":"ZNF592","hgnc_symbol":"ZNF592","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:85291866-85349659","ensembl_id":"ENSG00000166716"}},"GRch38":{"90":{"location":"15:84748635-84806432","ensembl_id":"ENSG00000166716"}}},"hgnc_date_symbol_changed":"2004-02-24"},"entity_type":"gene","entity_name":"ZNF592","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["20531441","26123727"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GM130","golgin-95"],"biotype":"protein_coding","hgnc_id":"HGNC:4425","gene_name":"golgin A2","omim_gene":["602580"],"alias_name":["Golgi matrix protein GM130","SY11 protein"],"gene_symbol":"GOLGA2","hgnc_symbol":"GOLGA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:131018108-131038274","ensembl_id":"ENSG00000167110"}},"GRch38":{"90":{"location":"9:128255829-128275995","ensembl_id":"ENSG00000167110"}}},"hgnc_date_symbol_changed":"1997-11-05"},"entity_type":"gene","entity_name":"GOLGA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 30237576","26742501","34424553"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:32","gene_name":"ATP binding cassette subfamily A member 2","omim_gene":["600047"],"alias_name":null,"gene_symbol":"ABCA2","hgnc_symbol":"ABCA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139901686-139923367","ensembl_id":"ENSG00000107331"}},"GRch38":{"90":{"location":"9:137007227-137028922","ensembl_id":"ENSG00000107331"}}},"hgnc_date_symbol_changed":"1994-03-16"},"entity_type":"gene","entity_name":"ABCA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30237576","29302074","31047799"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ23476","IRIP","SUA5"],"biotype":"protein_coding","hgnc_id":"HGNC:28905","gene_name":"yrdC N6-threonylcarbamoyltransferase domain containing","omim_gene":["612276"],"alias_name":["ischemia/reperfusion inducible protein"],"gene_symbol":"YRDC","hgnc_symbol":"YRDC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:38268616-38273857","ensembl_id":"ENSG00000196449"}},"GRch38":{"90":{"location":"1:37802944-37808185","ensembl_id":"ENSG00000196449"}}},"hgnc_date_symbol_changed":"2005-08-08"},"entity_type":"gene","entity_name":"YRDC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31481669"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Galloway-Mowat syndrome"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Kir5.1","BIR9"],"biotype":"protein_coding","hgnc_id":"HGNC:6262","gene_name":"potassium voltage-gated channel subfamily J member 16","omim_gene":["605722"],"alias_name":null,"gene_symbol":"KCNJ16","hgnc_symbol":"KCNJ16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:68049570-68131749","ensembl_id":"ENSG00000153822"}},"GRch38":{"90":{"location":"17:70053429-70135608","ensembl_id":"ENSG00000153822"}}},"hgnc_date_symbol_changed":"1998-05-29"},"entity_type":"gene","entity_name":"KCNJ16","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33811157","33840812"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Inherited renal tubular disease, MONDO:0015962, KCNJ16-related","Renal tubulopathy","deafness"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:31814","gene_name":"leucine rich repeat and Ig domain containing 4","omim_gene":["609794"],"alias_name":null,"gene_symbol":"LINGO4","hgnc_symbol":"LINGO4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:151772740-151778630","ensembl_id":"ENSG00000213171"}},"GRch38":{"90":{"location":"1:151800264-151806154","ensembl_id":"ENSG00000213171"}}},"hgnc_date_symbol_changed":"2007-02-01"},"entity_type":"gene","entity_name":"LINGO4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33098801"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO:0700092), LINGO4-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PDIP1","FKSG86","POLDIP1"],"biotype":"protein_coding","hgnc_id":"HGNC:22234","gene_name":"potassium channel tetramerization domain containing 13","omim_gene":["608947"],"alias_name":["polymerase delta-interacting protein 1","TNFAIP1-like"],"gene_symbol":"KCTD13","hgnc_symbol":"KCTD13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:29916333-29938356","ensembl_id":"ENSG00000174943"}},"GRch38":{"90":{"location":"16:29905012-29927035","ensembl_id":"ENSG00000174943"}}},"hgnc_date_symbol_changed":"2003-11-24"},"entity_type":"gene","entity_name":"KCTD13","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["33409479","22596160","29088697"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Neurodevelopmental disorder (MONDO#0700092), KCTD13-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CKI"],"biotype":"protein_coding","hgnc_id":"HGNC:1937","gene_name":"choline kinase alpha","omim_gene":["118491"],"alias_name":null,"gene_symbol":"CHKA","hgnc_symbol":"CHKA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:67820326-67888911","ensembl_id":"ENSG00000110721"}},"GRch38":{"90":{"location":"11:68052859-68121444","ensembl_id":"ENSG00000110721"}}},"hgnc_date_symbol_changed":"2004-04-21"},"entity_type":"gene","entity_name":"CHKA","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["35202461"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1854","CXorf2"],"biotype":"protein_coding","hgnc_id":"HGNC:13449","gene_name":"SLIT and NTRK like family member 2","omim_gene":["300561"],"alias_name":null,"gene_symbol":"SLITRK2","hgnc_symbol":"SLITRK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:144899350-144907360","ensembl_id":"ENSG00000185985"}},"GRch38":{"90":{"location":"X:145817832-145825842","ensembl_id":"ENSG00000185985"}}},"hgnc_date_symbol_changed":"2004-03-11"},"entity_type":"gene","entity_name":"SLITRK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35840571"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder, X-linked 111, MIM# 301107"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSPC109","CENP-32"],"biotype":"protein_coding","hgnc_id":"HGNC:26933","gene_name":"SPOUT domain containing methyltransferase 1","omim_gene":["617614"],"alias_name":["centromere protein 32"],"gene_symbol":"SPOUT1","hgnc_symbol":"SPOUT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:131581930-131592100","ensembl_id":"ENSG00000198917"}},"GRch38":{"90":{"location":"9:128819651-128829821","ensembl_id":"ENSG00000198917"}}},"hgnc_date_symbol_changed":"2016-06-30"},"entity_type":"gene","entity_name":"SPOUT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39962046"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, MIM#\t621154"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["IDN3","DKFZp434L1319","FLJ11203","FLJ12597","FLJ13354","FLJ13648","Scc2"],"biotype":"protein_coding","hgnc_id":"HGNC:28862","gene_name":"NIPBL, cohesin loading factor","omim_gene":["608667"],"alias_name":["sister chromatid cohesion 2 homolog (yeast)"],"gene_symbol":"NIPBL","hgnc_symbol":"NIPBL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:36876861-37066515","ensembl_id":"ENSG00000164190"}},"GRch38":{"90":{"location":"5:36876759-37066413","ensembl_id":"ENSG00000164190"}}},"hgnc_date_symbol_changed":"2004-07-21"},"entity_type":"gene","entity_name":"NIPBL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cornelia de Lange syndrome 1, MIM#\t122470"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["bHLHd4","bHLHd5","bHLHd6","bHLHd7","bHLHd8"],"biotype":"protein_coding","hgnc_id":"HGNC:6913","gene_name":"MYC associated factor X","omim_gene":["154950"],"alias_name":null,"gene_symbol":"MAX","hgnc_symbol":"MAX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:65472892-65569413","ensembl_id":"ENSG00000125952"}},"GRch38":{"90":{"location":"14:65006174-65102695","ensembl_id":"ENSG00000125952"}}},"hgnc_date_symbol_changed":"1992-10-27"},"entity_type":"gene","entity_name":"MAX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21685915"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["{Pheochromocytoma, susceptibility to}, MIM# 171300"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":152,"hash_id":null,"name":"Cancer Predisposition_Paediatric","disease_group":"Cancer","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.133","version_created":"2026-01-12T09:35:45.797477+11:00","relevant_disorders":[],"stats":{"number_of_genes":106,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PRAK"],"biotype":"protein_coding","hgnc_id":"HGNC:6889","gene_name":"mitogen-activated protein kinase-activated protein kinase 5","omim_gene":["606723"],"alias_name":null,"gene_symbol":"MAPKAPK5","hgnc_symbol":"MAPKAPK5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:112279782-112334343","ensembl_id":"ENSG00000089022"}},"GRch38":{"90":{"location":"12:111841978-111902238","ensembl_id":"ENSG00000089022"}}},"hgnc_date_symbol_changed":"1999-03-26"},"entity_type":"gene","entity_name":"MAPKAPK5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33442026"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurocardiofaciodigital syndrome, MIM# 619869"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":159,"hash_id":null,"name":"Polydactyly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes that cause syndromic and non-syndromic polydactyly.","status":"public","version":"0.301","version_created":"2026-03-12T11:30:58.449890+11:00","relevant_disorders":["Polydactyly","HP:0010442"],"stats":{"number_of_genes":141,"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"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["K2p3.1","TASK","TASK-1"],"biotype":"protein_coding","hgnc_id":"HGNC:6278","gene_name":"potassium two pore domain channel subfamily K member 3","omim_gene":["603220"],"alias_name":null,"gene_symbol":"KCNK3","hgnc_symbol":"KCNK3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:26915619-26956288","ensembl_id":"ENSG00000171303"}},"GRch38":{"90":{"location":"2:26692690-26733420","ensembl_id":"ENSG00000171303"}}},"hgnc_date_symbol_changed":"1997-12-12"},"entity_type":"gene","entity_name":"KCNK3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23883380","27649371"],"evidence":["Expert Review Green","Expert list","Expert list","Expert list"],"phenotypes":["Pulmonary hypertension, primary, 4 MIM#615344"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":162,"hash_id":null,"name":"Pulmonary Fibrosis_Interstitial Lung Disease","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.","status":"public","version":"1.10","version_created":"2026-03-17T11:39:32.713501+11:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":97,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hdhc11","DHC2","DHC1b","DYH1B"],"biotype":"protein_coding","hgnc_id":"HGNC:2962","gene_name":"dynein cytoplasmic 2 heavy chain 1","omim_gene":["603297"],"alias_name":null,"gene_symbol":"DYNC2H1","hgnc_symbol":"DYNC2H1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:102980160-103350591","ensembl_id":"ENSG00000187240"}},"GRch38":{"90":{"location":"11:103109431-103479863","ensembl_id":"ENSG00000187240"}}},"hgnc_date_symbol_changed":"2005-11-24"},"entity_type":"gene","entity_name":"DYNC2H1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31730820"],"evidence":["Expert Review Green","KidGen_CilioNephronop v38.1.0"],"phenotypes":["Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091","MONDO:0013127MONDO:0013127"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":193,"hash_id":null,"name":"Renal Ciliopathies and Nephronophthisis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen","status":"public","version":"1.53","version_created":"2026-03-19T17:14:29.802874+11:00","relevant_disorders":["Abnormality of renal medullary morphology","HP:0025361; Renal cyst","HP:0000107"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC4293"],"biotype":"protein_coding","hgnc_id":"HGNC:28662","gene_name":"deoxyhypusine hydroxylase","omim_gene":["611262"],"alias_name":null,"gene_symbol":"DOHH","hgnc_symbol":"DOHH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:3490819-3500938","ensembl_id":"ENSG00000129932"}},"GRch38":{"90":{"location":"19:3490822-3500940","ensembl_id":"ENSG00000129932"}}},"hgnc_date_symbol_changed":"2006-05-22"},"entity_type":"gene","entity_name":"DOHH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 30661771","35858628"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder, DOHH-related (MONDO#0700092)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ31937","EPM1B","RILP"],"biotype":"protein_coding","hgnc_id":"HGNC:17019","gene_name":"prickle planar cell polarity protein 1","omim_gene":["608500"],"alias_name":["REST/NRSF interacting LIM domain protein"],"gene_symbol":"PRICKLE1","hgnc_symbol":"PRICKLE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:42852140-42984157","ensembl_id":"ENSG00000139174"}},"GRch38":{"90":{"location":"12:42456757-42590355","ensembl_id":"ENSG00000139174"}}},"hgnc_date_symbol_changed":"2003-02-10"},"entity_type":"gene","entity_name":"PRICKLE1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["34597683","30564977","30345727","29790814","26727662","31035234","18976727","30564977"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Epilepsy, progressive myoclonic 1B, MIM# 612437"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["disputed"],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["COQ8","SCAR9"],"biotype":"protein_coding","hgnc_id":"HGNC:16812","gene_name":"coenzyme Q8A","omim_gene":["606980"],"alias_name":["coenzyme Q8 homolog (yeast)"],"gene_symbol":"COQ8A","hgnc_symbol":"COQ8A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:227085237-227175246","ensembl_id":"ENSG00000163050"}},"GRch38":{"90":{"location":"1:226897536-226987545","ensembl_id":"ENSG00000163050"}}},"hgnc_date_symbol_changed":"2016-07-07"},"entity_type":"gene","entity_name":"COQ8A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32337771"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Coenzyme Q10 deficiency, primary, 4 MIM#612016"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2295","gene_name":"ceruloplasmin","omim_gene":["117700"],"alias_name":["ferroxidase"],"gene_symbol":"CP","hgnc_symbol":"CP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:148880197-148939842","ensembl_id":"ENSG00000047457"}},"GRch38":{"90":{"location":"3:149162410-149222055","ensembl_id":"ENSG00000047457"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Aceruloplasminaemia, MIM#604290"],"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":["A2BP1","FOX-1","HRNBP1"],"biotype":"protein_coding","hgnc_id":"HGNC:18222","gene_name":"RNA binding fox-1 homolog 1","omim_gene":["605104"],"alias_name":["ataxin 2-binding protein 1","hexaribonucleotide binding protein 1"],"gene_symbol":"RBFOX1","hgnc_symbol":"RBFOX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:6069095-7763340","ensembl_id":"ENSG00000078328"}},"GRch38":{"90":{"location":"16:5239802-7713338","ensembl_id":"ENSG00000078328"}}},"hgnc_date_symbol_changed":"2010-09-10"},"entity_type":"gene","entity_name":"RBFOX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24664471","37962958"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Neurodevelopmental disorder (MONDO:0700092), RBFOX1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1785","EUROIMAGE686608","EUROIMAGE783647","FEM1A"],"biotype":"protein_coding","hgnc_id":"HGNC:16933","gene_name":"fem-1 homolog C","omim_gene":["608767"],"alias_name":null,"gene_symbol":"FEM1C","hgnc_symbol":"FEM1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:114856608-114880591","ensembl_id":"ENSG00000145780"}},"GRch38":{"90":{"location":"5:115520908-115544894","ensembl_id":"ENSG00000145780"}}},"hgnc_date_symbol_changed":"2002-10-08"},"entity_type":"gene","entity_name":"FEM1C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36336956","28135719","33398170","33398168"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder, FEM1C-related MONDO:0700092"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0458","ARP","ARG","DNB1"],"biotype":"protein_coding","hgnc_id":"HGNC:9965","gene_name":"arginine-glutamic acid dipeptide repeats","omim_gene":["605226"],"alias_name":null,"gene_symbol":"RERE","hgnc_symbol":"RERE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:8412457-8877702","ensembl_id":"ENSG00000142599"}},"GRch38":{"90":{"location":"1:8352397-8817643","ensembl_id":"ENSG00000142599"}}},"hgnc_date_symbol_changed":"2000-05-19"},"entity_type":"gene","entity_name":"RERE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27087320","23451234","30896913","30061196"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NMMHCB"],"biotype":"protein_coding","hgnc_id":"HGNC:7568","gene_name":"myosin heavy chain 10","omim_gene":["160776"],"alias_name":null,"gene_symbol":"MYH10","hgnc_symbol":"MYH10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:8377523-8534079","ensembl_id":"ENSG00000133026"}},"GRch38":{"90":{"location":"17:8474205-8630761","ensembl_id":"ENSG00000133026"}}},"hgnc_date_symbol_changed":"1991-05-15"},"entity_type":"gene","entity_name":"MYH10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24825879","24901346","25356899","22495309","25003005"],"evidence":["Expert Review Green","Literature","Expert list"],"phenotypes":["AD complex neurodevelopmental disorder  with or without congenital anomalies (MONDO:0100465)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NUP358","ADANE"],"biotype":"protein_coding","hgnc_id":"HGNC:9848","gene_name":"RAN binding protein 2","omim_gene":["601181"],"alias_name":["nucleoporin 358"],"gene_symbol":"RANBP2","hgnc_symbol":"RANBP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:109335937-109402267","ensembl_id":"ENSG00000153201"}},"GRch38":{"90":{"location":"2:108719481-108785811","ensembl_id":"ENSG00000153201"}}},"hgnc_date_symbol_changed":"1996-11-14"},"entity_type":"gene","entity_name":"RANBP2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":["Encephalopathy, acute, infection-induced, 3, susceptibility to, MIM# 608033"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TDPGD","SDR2E1"],"biotype":"protein_coding","hgnc_id":"HGNC:20324","gene_name":"TDP-glucose 4,6-dehydratase","omim_gene":["616146"],"alias_name":["short chain dehydrogenase/reductase family 2E, member 1"],"gene_symbol":"TGDS","hgnc_symbol":"TGDS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:95226308-95248511","ensembl_id":"ENSG00000088451"}},"GRch38":{"90":{"location":"13:94574051-94596257","ensembl_id":"ENSG00000088451"}}},"hgnc_date_symbol_changed":"2003-04-10"},"entity_type":"gene","entity_name":"TGDS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["25480037"],"evidence":["Expert Review Green","NHS GMS","Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Catel-Manzke syndrome 616145"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["dJ858B16.2","PSDC"],"biotype":"protein_coding","hgnc_id":"HGNC:8999","gene_name":"phosphatidylserine decarboxylase","omim_gene":["612770"],"alias_name":null,"gene_symbol":"PISD","hgnc_symbol":"PISD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:32014477-32058418","ensembl_id":"ENSG00000241878"}},"GRch38":{"90":{"location":"22:31618491-31662432","ensembl_id":"ENSG00000241878"}}},"hgnc_date_symbol_changed":"1999-10-29"},"entity_type":"gene","entity_name":"PISD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30488656","31263216","30858161"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Liberfarb syndrome MIM#\t618889","Spondylometaphyseal dysplasia with large epiphyses, MONDO:0100510"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ25530","hepaCAM","GLIALCAM"],"biotype":"protein_coding","hgnc_id":"HGNC:26361","gene_name":"hepatic and glial cell adhesion molecule","omim_gene":["611642"],"alias_name":["glial cell adhesion molecule"],"gene_symbol":"HEPACAM","hgnc_symbol":"HEPACAM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:124789089-124806308","ensembl_id":"ENSG00000165478"}},"GRch38":{"90":{"location":"11:124919193-124936412","ensembl_id":"ENSG00000165478"}}},"hgnc_date_symbol_changed":"2007-01-22"},"entity_type":"gene","entity_name":"HEPACAM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["21419380","21419380"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM#\t613925","Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, MIM#\t613926"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"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":["KIAA1620"],"biotype":"protein_coding","hgnc_id":"HGNC:13797","gene_name":"periaxin","omim_gene":["605725"],"alias_name":null,"gene_symbol":"PRX","hgnc_symbol":"PRX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:40899675-40919273","ensembl_id":"ENSG00000105227"}},"GRch38":{"90":{"location":"19:40393768-40413366","ensembl_id":"ENSG00000105227"}}},"hgnc_date_symbol_changed":"2001-02-15"},"entity_type":"gene","entity_name":"PRX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11133365","11157804","15197604","21079185","22847150","10839370","32460404","31523542","31426691"],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green"],"phenotypes":["Charcot-Marie-Tooth disease type 4 MONDO:0018995"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1913","gene_name":"regulator of chromosome condensation 1","omim_gene":["179710"],"alias_name":null,"gene_symbol":"RCC1","hgnc_symbol":"RCC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:28832455-28865812","ensembl_id":"ENSG00000180198"}},"GRch38":{"90":{"location":"1:28505943-28539300","ensembl_id":"ENSG00000180198"}}},"hgnc_date_symbol_changed":"2005-05-09"},"entity_type":"gene","entity_name":"RCC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40683276"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Infection-induced acute-onset axonal neuropathy, MIM# 621333"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"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","Expert Review Green","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3071,"hash_id":null,"name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.65","version_created":"2026-01-21T10:59:30.179226+11:00","relevant_disorders":["Limb-girdle muscular dystrophy","MONDO:0016971; Proximal muscle weakness","HP:0003701; Distal myopathy MONDO:0018949"],"stats":{"number_of_genes":102,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0233"],"biotype":"protein_coding","hgnc_id":"HGNC:28993","gene_name":"piezo type mechanosensitive ion channel component 1","omim_gene":["611184"],"alias_name":null,"gene_symbol":"PIEZO1","hgnc_symbol":"PIEZO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:88781751-88851619","ensembl_id":"ENSG00000103335"}},"GRch38":{"90":{"location":"16:88715343-88785211","ensembl_id":"ENSG00000103335"}}},"hgnc_date_symbol_changed":"2011-08-31"},"entity_type":"gene","entity_name":"PIEZO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26333996","26387913"],"evidence":["Expert Review Green","London South GLH","Expert list"],"phenotypes":["Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380","Lymphatic malformation 6 616843"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3098,"hash_id":null,"name":"Lymphoedema","disease_group":"Cardiovascular disorders","disease_sub_group":"Lymphatic Disorders","description":"The panel contains genes associated with nonsyndromic and syndromic lymphoedema.","status":"public","version":"0.32","version_created":"2026-02-06T22:04:55.315713+11:00","relevant_disorders":["Lymphedema","HP:0001004"],"stats":{"number_of_genes":59,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CDV-1R","MGC4027"],"biotype":"protein_coding","hgnc_id":"HGNC:14313","gene_name":"intraflagellar transport 81","omim_gene":["605489"],"alias_name":null,"gene_symbol":"IFT81","hgnc_symbol":"IFT81","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:110562140-110656602","ensembl_id":"ENSG00000122970"}},"GRch38":{"90":{"location":"12:110124335-110218797","ensembl_id":"ENSG00000122970"}}},"hgnc_date_symbol_changed":"2005-11-02"},"entity_type":"gene","entity_name":"IFT81","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["28460050","26275418","27666822","32783357"],"evidence":["Expert Review Amber","RetNet"],"phenotypes":["Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.256","version_created":"2026-03-31T19:05:29.271183+11:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":138,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11559","gene_name":"transaldolase 1","omim_gene":["602063"],"alias_name":null,"gene_symbol":"TALDO1","hgnc_symbol":"TALDO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:747329-765024","ensembl_id":"ENSG00000177156"}},"GRch38":{"90":{"location":"11:747329-765024","ensembl_id":"ENSG00000177156"}}},"hgnc_date_symbol_changed":"1997-10-17"},"entity_type":"gene","entity_name":"TALDO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Transaldolase deficiency, 606003 (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":["MtCCA","CGI-47","CCA1"],"biotype":"protein_coding","hgnc_id":"HGNC:17341","gene_name":"tRNA nucleotidyl transferase 1","omim_gene":["612907"],"alias_name":["ATP(CTP):tRNA nucleotidyltransferase","CCA-adding enzyme"],"gene_symbol":"TRNT1","hgnc_symbol":"TRNT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:3168600-3192563","ensembl_id":"ENSG00000072756"}},"GRch38":{"90":{"location":"3:3126916-3150879","ensembl_id":"ENSG00000072756"}}},"hgnc_date_symbol_changed":"2002-05-30"},"entity_type":"gene","entity_name":"TRNT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (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":["UBC2","HHR6A","RAD6A"],"biotype":"protein_coding","hgnc_id":"HGNC:12472","gene_name":"ubiquitin conjugating enzyme E2 A","omim_gene":["312180"],"alias_name":null,"gene_symbol":"UBE2A","hgnc_symbol":"UBE2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:118708501-118718381","ensembl_id":"ENSG00000077721"}},"GRch38":{"90":{"location":"X:119574467-119591083","ensembl_id":"ENSG00000077721"}}},"hgnc_date_symbol_changed":"1992-12-02"},"entity_type":"gene","entity_name":"UBE2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PP591","FAD1"],"biotype":"protein_coding","hgnc_id":"HGNC:24671","gene_name":"flavin adenine dinucleotide synthetase 1","omim_gene":["610595"],"alias_name":null,"gene_symbol":"FLAD1","hgnc_symbol":"FLAD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:154955814-154965587","ensembl_id":"ENSG00000160688"}},"GRch38":{"90":{"location":"1:154983338-154993111","ensembl_id":"ENSG00000160688"}}},"hgnc_date_symbol_changed":"2005-07-29"},"entity_type":"gene","entity_name":"FLAD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 (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":["SUTAL","BLOC2S1"],"biotype":"protein_coding","hgnc_id":"HGNC:15597","gene_name":"HPS3, biogenesis of lysosomal organelles complex 2 subunit 1","omim_gene":["606118"],"alias_name":null,"gene_symbol":"HPS3","hgnc_symbol":"HPS3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:148847371-148891519","ensembl_id":"ENSG00000163755"}},"GRch38":{"90":{"location":"3:149129584-149173732","ensembl_id":"ENSG00000163755"}}},"hgnc_date_symbol_changed":"2001-06-13"},"entity_type":"gene","entity_name":"HPS3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hermansky-Pudlak syndrome 3, 614072 (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":["KRT5A"],"biotype":"protein_coding","hgnc_id":"HGNC:6442","gene_name":"keratin 5","omim_gene":["148040"],"alias_name":null,"gene_symbol":"KRT5","hgnc_symbol":"KRT5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52908359-52914471","ensembl_id":"ENSG00000186081"}},"GRch38":{"90":{"location":"12:52514575-52520687","ensembl_id":"ENSG00000186081"}}},"hgnc_date_symbol_changed":"1991-09-12"},"entity_type":"gene","entity_name":"KRT5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Epidermolysis bullosa simplex, recessive 1, 601001 (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":["CPRP1","KIAA0214","MARF","CMT2A2"],"biotype":"protein_coding","hgnc_id":"HGNC:16877","gene_name":"mitofusin 2","omim_gene":["608507"],"alias_name":null,"gene_symbol":"MFN2","hgnc_symbol":"MFN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:12040238-12073571","ensembl_id":"ENSG00000116688"}},"GRch38":{"90":{"location":"1:11980181-12013514","ensembl_id":"ENSG00000116688"}}},"hgnc_date_symbol_changed":"2003-02-25"},"entity_type":"gene","entity_name":"MFN2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (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":[],"biotype":"protein_coding","hgnc_id":"HGNC:8905","gene_name":"phosphoglucomutase 1","omim_gene":["171900"],"alias_name":null,"gene_symbol":"PGM1","hgnc_symbol":"PGM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:64058947-64125916","ensembl_id":"ENSG00000079739"}},"GRch38":{"90":{"location":"1:63593276-63660245","ensembl_id":"ENSG00000079739"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PGM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Congenital disorder of glycosylation, type It, 614921 (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":["Rec8p","kleisin-alpha"],"biotype":"protein_coding","hgnc_id":"HGNC:16879","gene_name":"REC8 meiotic recombination protein","omim_gene":["608193"],"alias_name":null,"gene_symbol":"REC8","hgnc_symbol":"REC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:24641062-24649463","ensembl_id":"ENSG00000100918"}},"GRch38":{"90":{"location":"14:24171853-24180257","ensembl_id":"ENSG00000100918"}}},"hgnc_date_symbol_changed":"2007-04-03"},"entity_type":"gene","entity_name":"REC8","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["34794894","15515002","34707299"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Infertility disorder, MONDO:0005047, REC8-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["HLA-H"],"biotype":"protein_coding","hgnc_id":"HGNC:4886","gene_name":"hemochromatosis","omim_gene":["613609"],"alias_name":["high Fe"],"gene_symbol":"HFE","hgnc_symbol":"HFE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:26087509-26098571","ensembl_id":"ENSG00000010704"}},"GRch38":{"90":{"location":"6:26087281-26098343","ensembl_id":"ENSG00000010704"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"HFE","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["MetBioNet","Expert Review Amber","NHS GMS"],"phenotypes":["Hemochromatosis, 235200","Hemochromatosis","Hereditary haemochromatosis Type 1 (Disorder of iron metabolism)","DCM","Haemochromatosis","Iron overload, liver disease, diabetes, hypogonadism","HCM","Hypertrophic-hypocontractile cardiomyopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CMD1R"],"biotype":"protein_coding","hgnc_id":"HGNC:143","gene_name":"actin, alpha, cardiac muscle 1","omim_gene":["102540"],"alias_name":null,"gene_symbol":"ACTC1","hgnc_symbol":"ACTC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:35080297-35088340","ensembl_id":"ENSG00000159251"}},"GRch38":{"90":{"location":"15:34788096-34796139","ensembl_id":"ENSG00000159251"}}},"hgnc_date_symbol_changed":"2006-08-24"},"entity_type":"gene","entity_name":"ACTC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","London South GLH","South West GLH","NHS GMS"],"phenotypes":["Cardiomyopathy, dilated, 1R","Left ventricular noncompaction 4","Left Ventricular Noncompaction Cardiomyopathy","Hypertrophic Cardiomyopathy","Cardiomyopathy, familial hypertrophic, 11"],"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:7601","gene_name":"myosin IIIA","omim_gene":["606808"],"alias_name":null,"gene_symbol":"MYO3A","hgnc_symbol":"MYO3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:26223196-26501456","ensembl_id":"ENSG00000095777"}},"GRch38":{"90":{"location":"10:25934267-26212527","ensembl_id":"ENSG00000095777"}}},"hgnc_date_symbol_changed":"2000-05-16"},"entity_type":"gene","entity_name":"MYO3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Sensorineural hearing loss"],"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":["MGC12676","KIAA1297","SPEGalpha","SPEGbeta","BPEG"],"biotype":"protein_coding","hgnc_id":"HGNC:16901","gene_name":"SPEG complex locus","omim_gene":["615950"],"alias_name":null,"gene_symbol":"SPEG","hgnc_symbol":"SPEG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:220299568-220363009","ensembl_id":"ENSG00000072195"}},"GRch38":{"90":{"location":"2:219434846-219498287","ensembl_id":"ENSG00000072195"}}},"hgnc_date_symbol_changed":"2006-04-27"},"entity_type":"gene","entity_name":"SPEG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25087613","31625632","30412272","30157964","29614691","29474540","28624463","26578207","25087613"],"evidence":["Expert Review Green","BabySeq Category C gene"],"phenotypes":["Centronuclear myopathy 5, MIM# 615959"],"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":["HsT17432"],"biotype":"protein_coding","hgnc_id":"HGNC:6772","gene_name":"SMAD family member 6","omim_gene":["602931"],"alias_name":null,"gene_symbol":"SMAD6","hgnc_symbol":"SMAD6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:66994566-67074338","ensembl_id":"ENSG00000137834"}},"GRch38":{"90":{"location":"15:66702228-66782848","ensembl_id":"ENSG00000137834"}}},"hgnc_date_symbol_changed":"2004-05-26"},"entity_type":"gene","entity_name":"SMAD6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Cardiovascular malformation, congenital"],"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:4878","gene_name":"hexosaminidase subunit alpha","omim_gene":["606869"],"alias_name":["Tay Sachs disease","GM2 gangliosidosis","beta-hexosaminidase subunit alpha"],"gene_symbol":"HEXA","hgnc_symbol":"HEXA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:72635775-72668817","ensembl_id":"ENSG00000213614"}},"GRch38":{"90":{"location":"15:72340919-72376476","ensembl_id":"ENSG00000213614"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HEXA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Tay-Sachs disease"],"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":["DIP-1","MIB","KIAA1323","ZZANK2","ZZZ6"],"biotype":"protein_coding","hgnc_id":"HGNC:21086","gene_name":"mindbomb E3 ubiquitin protein ligase 1","omim_gene":["608677"],"alias_name":null,"gene_symbol":"MIB1","hgnc_symbol":"MIB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:19284918-19450918","ensembl_id":"ENSG00000101752"}},"GRch38":{"90":{"location":"18:21704957-21870957","ensembl_id":"ENSG00000101752"}}},"hgnc_date_symbol_changed":"2004-06-18"},"entity_type":"gene","entity_name":"MIB1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Left ventricular noncompaction"],"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":["LAL","CESD"],"biotype":"protein_coding","hgnc_id":"HGNC:6617","gene_name":"lipase A, lysosomal acid type","omim_gene":["613497"],"alias_name":["Wolman disease","lysosomal acid lipase","sterol esterase"],"gene_symbol":"LIPA","hgnc_symbol":"LIPA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:90973326-91174314","ensembl_id":"ENSG00000107798"}},"GRch38":{"90":{"location":"10:89213569-89414557","ensembl_id":"ENSG00000107798"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"LIPA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Wolman 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":["LBN"],"biotype":"protein_coding","hgnc_id":"HGNC:19747","gene_name":"EvC ciliary complex subunit 2","omim_gene":["607261"],"alias_name":["limbin"],"gene_symbol":"EVC2","hgnc_symbol":"EVC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:5544499-5711275","ensembl_id":"ENSG00000173040"}},"GRch38":{"90":{"location":"4:5542772-5709548","ensembl_id":"ENSG00000173040"}}},"hgnc_date_symbol_changed":"2003-04-11"},"entity_type":"gene","entity_name":"EVC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Ellis-van Creveld 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":["EAR-7.1/EAR-7.2","THRA3","AR7","ERBA","NR1A1"],"biotype":"protein_coding","hgnc_id":"HGNC:11796","gene_name":"thyroid hormone receptor, alpha","omim_gene":["190120"],"alias_name":null,"gene_symbol":"THRA","hgnc_symbol":"THRA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:38214543-38250120","ensembl_id":"ENSG00000126351"}},"GRch38":{"90":{"location":"17:40058290-40093867","ensembl_id":"ENSG00000126351"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"THRA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3366,"hash_id":null,"name":"Red cell disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.","status":"public","version":"1.52","version_created":"2026-03-28T15:18:36.006857+11:00","relevant_disorders":["Abnormal erythrocyte morphology","HP:0001877"],"stats":{"number_of_genes":116,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC15668","4-HPPD-L"],"biotype":"protein_coding","hgnc_id":"HGNC:28242","gene_name":"4-hydroxyphenylpyruvate dioxygenase like","omim_gene":null,"alias_name":null,"gene_symbol":"HPDL","hgnc_symbol":"HPDL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45792545-45794347","ensembl_id":"ENSG00000186603"}},"GRch38":{"90":{"location":"1:45326905-45328533","ensembl_id":"ENSG00000186603"}}},"hgnc_date_symbol_changed":"2007-03-14"},"entity_type":"gene","entity_name":"HPDL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32707086"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MIM#\t619026"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3379,"hash_id":null,"name":"Congenital ophthalmoplegia","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with congenital ophthalmoplegia including those associated with congenital fibrosis of the extra-ocular muscles (CFEOM), Duane anomaly, Moebius syndrome, and gaze palsies.\r\n\r\nIn addition, it includes genes associated with conditions where ophthalmoplegia can occur in infancy/early childhood as a common/prominent feature of a more complex syndromic, metabolic or neuromuscular condition.","status":"public","version":"1.14","version_created":"2025-12-14T20:52:23.588623+11:00","relevant_disorders":["Abnormality of eye movement","HP:0000496"],"stats":{"number_of_genes":55,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ20718"],"biotype":"protein_coding","hgnc_id":"HGNC:26087","gene_name":"HEAT repeat containing 3","omim_gene":["614951"],"alias_name":null,"gene_symbol":"HEATR3","hgnc_symbol":"HEATR3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:50099852-50140298","ensembl_id":"ENSG00000155393"}},"GRch38":{"90":{"location":"16:50065941-50106387","ensembl_id":"ENSG00000155393"}}},"hgnc_date_symbol_changed":"2006-04-05"},"entity_type":"gene","entity_name":"HEATR3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 35213692"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability","Diamond-Blackfan anaemia 21, MIM# 620072"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ13621"],"biotype":"protein_coding","hgnc_id":"HGNC:29086","gene_name":"centrosomal protein 135","omim_gene":["611423"],"alias_name":null,"gene_symbol":"CEP135","hgnc_symbol":"CEP135","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:56815037-56899529","ensembl_id":"ENSG00000174799"}},"GRch38":{"90":{"location":"4:55948871-56033363","ensembl_id":"ENSG00000174799"}}},"hgnc_date_symbol_changed":"2005-12-02"},"entity_type":"gene","entity_name":"CEP135","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30214071","22521416","26657937"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Microcephaly 8, primary, autosomal recessive, OMIM:614673","Microcephaly 8, primary, autosomal recessive, MONDO:0013849","Microcephalic primordial dwarfism"],"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":["WAIT-1","HEED"],"biotype":"protein_coding","hgnc_id":"HGNC:3188","gene_name":"embryonic ectoderm development","omim_gene":["605984"],"alias_name":["WD protein associating with integrin cytoplasmic tails 1"],"gene_symbol":"EED","hgnc_symbol":"EED","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:85955586-85989855","ensembl_id":"ENSG00000074266"}},"GRch38":{"90":{"location":"11:86244544-86278813","ensembl_id":"ENSG00000074266"}}},"hgnc_date_symbol_changed":"1998-12-09"},"entity_type":"gene","entity_name":"EED","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25787343","27193220","27868325","28229514"],"evidence":["Expert Review Green","Genomics England PanelApp","Literature","Genetic Health Queensland"],"phenotypes":["Cohen-Gibson syndrome, MONDO:0060510","Cohen-Gibson syndrome, OMIM:617561"],"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":["FLJ14178","MIRH1","MIHG1","NCRNA00048","miR-17-92","LINC00048"],"biotype":"processed_transcript","hgnc_id":"HGNC:23564","gene_name":"miR-17-92a-1 cluster host gene","omim_gene":["609415"],"alias_name":["non-protein coding RNA 48","long intergenic non-protein coding RNA 48"],"gene_symbol":"MIR17HG","hgnc_symbol":"MIR17HG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:92000074-92006833","ensembl_id":"ENSG00000215417"}},"GRch38":{"90":{"location":"13:91347820-91354579","ensembl_id":"ENSG00000215417"}}},"hgnc_date_symbol_changed":"2009-07-24"},"entity_type":"gene","entity_name":"MIR17HG","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["25391829","21892160"],"evidence":["Expert Review Amber","Genomics England PanelApp","Expert list","Expert list"],"phenotypes":["Feingold syndrome 2, MIM #614326"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV","non-coding gene"],"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":["slit2","MEGF5","SLIT1","Slit-3"],"biotype":"protein_coding","hgnc_id":"HGNC:11087","gene_name":"slit guidance ligand 3","omim_gene":["603745"],"alias_name":null,"gene_symbol":"SLIT3","hgnc_symbol":"SLIT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:168088745-168728133","ensembl_id":"ENSG00000184347"}},"GRch38":{"90":{"location":"5:168661733-169301129","ensembl_id":"ENSG00000184347"}}},"hgnc_date_symbol_changed":"1998-03-25"},"entity_type":"gene","entity_name":"SLIT3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33933663"],"evidence":["Expert Review Amber","Literature","Expert list"],"phenotypes":["Congenital diaphragmatic hernia MONDO:0005711, SLIT3-related"],"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":["OSCP","ATPO"],"biotype":"protein_coding","hgnc_id":"HGNC:850","gene_name":"ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit","omim_gene":["600828"],"alias_name":["oligomycin sensitivity conferring protein"],"gene_symbol":"ATP5O","hgnc_symbol":"ATP5O","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:35275757-35288284","ensembl_id":"ENSG00000241837"}},"GRch38":{"90":{"location":"21:33903453-33915980","ensembl_id":"ENSG00000241837"}}},"hgnc_date_symbol_changed":"1995-04-12"},"entity_type":"gene","entity_name":"ATP5O","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35621276","34954817"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC71996","NBIA3"],"biotype":"protein_coding","hgnc_id":"HGNC:3999","gene_name":"ferritin light chain","omim_gene":["134790"],"alias_name":["ferritin light polypeptide-like 3","L apoferritin","ferritin L subunit","ferritin light chain","ferritin L-chain","neurodegeneration with brain iron accumulation 3"],"gene_symbol":"FTL","hgnc_symbol":"FTL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:49468558-49470135","ensembl_id":"ENSG00000087086"}},"GRch38":{"90":{"location":"19:48965301-48966878","ensembl_id":"ENSG00000087086"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"FTL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Hyperferritinemia-cataract syndrome, MIM# 600886"],"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":["P5C"],"biotype":"protein_coding","hgnc_id":"HGNC:9721","gene_name":"pyrroline-5-carboxylate reductase 1","omim_gene":["179035"],"alias_name":null,"gene_symbol":"PYCR1","hgnc_symbol":"PYCR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:79890260-79900288","ensembl_id":"ENSG00000183010"}},"GRch38":{"90":{"location":"17:81932384-81942412","ensembl_id":"ENSG00000183010"}}},"hgnc_date_symbol_changed":"1992-11-24"},"entity_type":"gene","entity_name":"PYCR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Cutis laxa, autosomal recessive, type IIB, MIM# 612940"],"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":["EST140535","Atm1p","ASAT"],"biotype":"protein_coding","hgnc_id":"HGNC:48","gene_name":"ATP binding cassette subfamily B member 7","omim_gene":["300135"],"alias_name":null,"gene_symbol":"ABCB7","hgnc_symbol":"ABCB7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:74273115-74376567","ensembl_id":"ENSG00000131269"}},"GRch38":{"90":{"location":"X:75053172-75156732","ensembl_id":"ENSG00000131269"}}},"hgnc_date_symbol_changed":"1997-09-12"},"entity_type":"gene","entity_name":"ABCB7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10196363","33157103","31772327","31511561","26242992","34354969","22398176"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Anemia, sideroblastic, with ataxia, MIM# 301310"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD220"],"biotype":"protein_coding","hgnc_id":"HGNC:6091","gene_name":"insulin receptor","omim_gene":["147670"],"alias_name":null,"gene_symbol":"INSR","hgnc_symbol":"INSR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:7112266-7294045","ensembl_id":"ENSG00000171105"}},"GRch38":{"90":{"location":"19:7112255-7294034","ensembl_id":"ENSG00000171105"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"INSR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34965699","11735220","12023989","13302174","10084586"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Donohue syndrome MIM#246200","Rabson-Mendenhall syndrome MIM#262190"],"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":["SDR11E2"],"biotype":"protein_coding","hgnc_id":"HGNC:5218","gene_name":"hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2","omim_gene":["613890"],"alias_name":["short chain dehydrogenase/reductase family 11E, member 2"],"gene_symbol":"HSD3B2","hgnc_symbol":"HSD3B2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:119957554-119965658","ensembl_id":"ENSG00000203859"}},"GRch38":{"90":{"location":"1:119414931-119423035","ensembl_id":"ENSG00000203859"}}},"hgnc_date_symbol_changed":"1992-09-10"},"entity_type":"gene","entity_name":"HSD3B2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33757164","1363812"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM#201810"],"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":["cavin-1","CGL4"],"biotype":"protein_coding","hgnc_id":"HGNC:9688","gene_name":"caveolae associated protein 1","omim_gene":["603198"],"alias_name":["congenital generalized lipodystrophy 4"],"gene_symbol":"CAVIN1","hgnc_symbol":"CAVIN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40554470-40575535","ensembl_id":"ENSG00000177469"}},"GRch38":{"90":{"location":"17:42402452-42423517","ensembl_id":"ENSG00000177469"}}},"hgnc_date_symbol_changed":"2017-03-24"},"entity_type":"gene","entity_name":"CAVIN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19726876","20300641","20684003","18840361"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Lipodystrophy, congenital generalized, type 4, MIM# 613327","MONDO:0013225"],"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":["S2P"],"biotype":"protein_coding","hgnc_id":"HGNC:15455","gene_name":"membrane bound transcription factor peptidase, site 2","omim_gene":["300294"],"alias_name":["site-2 protease"],"gene_symbol":"MBTPS2","hgnc_symbol":"MBTPS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:21857754-21903542","ensembl_id":"ENSG00000012174"}},"GRch38":{"90":{"location":"X:21839636-21885424","ensembl_id":"ENSG00000012174"}}},"hgnc_date_symbol_changed":"2001-03-30"},"entity_type":"gene","entity_name":"MBTPS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19361614","27380894","34902613","14708109","22105905","24313295","19689518","24090718","21600032"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["IFAP syndrome with or without BRESHECK syndrome MIM#308205","Osteogenesis imperfecta, type XIX MIM#301014"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BGL","LAB300","LBA"],"biotype":"protein_coding","hgnc_id":"HGNC:1742","gene_name":"LPS responsive beige-like anchor protein","omim_gene":["606453"],"alias_name":null,"gene_symbol":"LRBA","hgnc_symbol":"LRBA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:151185594-151936879","ensembl_id":"ENSG00000198589"}},"GRch38":{"90":{"location":"4:150264531-151015727","ensembl_id":"ENSG00000198589"}}},"hgnc_date_symbol_changed":"2001-10-05"},"entity_type":"gene","entity_name":"LRBA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22608502","22721650","25468195","26206937","33155142"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Immunodeficiency, common variable, 8, with autoimmunity MIM#614700"],"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":["EVA"],"biotype":"protein_coding","hgnc_id":"HGNC:3496","gene_name":"myelin protein zero like 2","omim_gene":["604873"],"alias_name":null,"gene_symbol":"MPZL2","hgnc_symbol":"MPZL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118124118-118135251","ensembl_id":"ENSG00000149573"}},"GRch38":{"90":{"location":"11:118253403-118264536","ensembl_id":"ENSG00000149573"}}},"hgnc_date_symbol_changed":"2007-08-01"},"entity_type":"gene","entity_name":"MPZL2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 29982980, 29961571, 35734045,33234333"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Deafness, autosomal recessive 111 MIM#618145"],"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":["GPSN2L","SRD5A2L2","DKFZp313D0829","DKFZp313B2333","TERL"],"biotype":"protein_coding","hgnc_id":"HGNC:27365","gene_name":"trans-2,3-enoyl-CoA reductase like","omim_gene":["617242"],"alias_name":["glycoprotein, synaptic 2-like"],"gene_symbol":"TECRL","hgnc_symbol":"TECRL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:65140975-65275186","ensembl_id":"ENSG00000205678"}},"GRch38":{"90":{"location":"4:64275257-64409468","ensembl_id":"ENSG00000205678"}}},"hgnc_date_symbol_changed":"2009-07-21"},"entity_type":"gene","entity_name":"TECRL","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Amber","ClinGen"],"phenotypes":["Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM#\t614021"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["cardiac","treatable"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["myr2"],"biotype":"protein_coding","hgnc_id":"HGNC:7597","gene_name":"myosin IC","omim_gene":["606538"],"alias_name":null,"gene_symbol":"MYO1C","hgnc_symbol":"MYO1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:1367392-1396106","ensembl_id":"ENSG00000197879"}},"GRch38":{"90":{"location":"17:1464098-1492812","ensembl_id":"ENSG00000197879"}}},"hgnc_date_symbol_changed":"1996-04-04"},"entity_type":"gene","entity_name":"MYO1C","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Sensorineural hearing loss"],"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":["DRE1","FLJ20059"],"biotype":"protein_coding","hgnc_id":"HGNC:25947","gene_name":"kelch like family member 24","omim_gene":["611295"],"alias_name":null,"gene_symbol":"KLHL24","hgnc_symbol":"KLHL24","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:183353356-183402265","ensembl_id":"ENSG00000114796"}},"GRch38":{"90":{"location":"3:183635568-183684477","ensembl_id":"ENSG00000114796"}}},"hgnc_date_symbol_changed":"2005-09-10"},"entity_type":"gene","entity_name":"KLHL24","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27798626","30715372","27889062"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM# 620236"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD113t-C","beta-globin"],"biotype":"protein_coding","hgnc_id":"HGNC:4827","gene_name":"hemoglobin subunit beta","omim_gene":["141900"],"alias_name":null,"gene_symbol":"HBB","hgnc_symbol":"HBB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:5246694-5250625","ensembl_id":"ENSG00000244734"}},"GRch38":{"90":{"location":"11:5225464-5229395","ensembl_id":"ENSG00000244734"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HBB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Sickle cell anaemia, MIM# 603903"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2076","gene_name":"CLN5, intracellular trafficking protein","omim_gene":["608102"],"alias_name":null,"gene_symbol":"CLN5","hgnc_symbol":"CLN5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:77564795-77576652","ensembl_id":"ENSG00000102805"}},"GRch38":{"90":{"location":"13:76990660-77019143","ensembl_id":"ENSG00000102805"}}},"hgnc_date_symbol_changed":"1993-11-03"},"entity_type":"gene","entity_name":"CLN5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 5, MIM# 256731","MONDO:0009745"],"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":["StAR","STARD1"],"biotype":"protein_coding","hgnc_id":"HGNC:11359","gene_name":"steroidogenic acute regulatory protein","omim_gene":["600617"],"alias_name":["StAR related lipid transfer (START) domain containing 1"],"gene_symbol":"STAR","hgnc_symbol":"STAR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:38001167-38008783","ensembl_id":"ENSG00000147465"}},"GRch38":{"90":{"location":"8:38143649-38151265","ensembl_id":"ENSG00000147465"}}},"hgnc_date_symbol_changed":"1996-04-24"},"entity_type":"gene","entity_name":"STAR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["38913505","36733346"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Lipoid adrenal hyperplasia, MIM# 201710"],"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":"1.143","version_created":"2026-04-13T17:24:02.975530+10:00","relevant_disorders":[],"stats":{"number_of_genes":265,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1725","gene_name":"cell division cycle 25A","omim_gene":["116947"],"alias_name":null,"gene_symbol":"CDC25A","hgnc_symbol":"CDC25A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:48198636-48229892","ensembl_id":"ENSG00000164045"}},"GRch38":{"90":{"location":"3:48157146-48188402","ensembl_id":"ENSG00000164045"}}},"hgnc_date_symbol_changed":"1992-07-31"},"entity_type":"gene","entity_name":"CDC25A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40342881","30009144","16720623"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spermatogenic failure, MONDO:0004983, CDC25A-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":"1.143","version_created":"2026-04-13T17:24:02.975530+10:00","relevant_disorders":[],"stats":{"number_of_genes":265,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MFE-2","DBP","SDR8C1"],"biotype":"protein_coding","hgnc_id":"HGNC:5213","gene_name":"hydroxysteroid 17-beta dehydrogenase 4","omim_gene":["601860"],"alias_name":["17beta-estradiol dehydrogenase type IV","peroxisomal multifunctional protein 2","17-beta-HSD IV","17-beta-hydroxysteroid dehydrogenase 4","D-bifunctional protein, peroxisomal","D-3-hydroxyacyl-CoA dehydratase","3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase","beta-keto-reductase","beta-hydroxyacyl dehydrogenase","short chain dehydrogenase/reductase family 8C, member 1"],"gene_symbol":"HSD17B4","hgnc_symbol":"HSD17B4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:118788138-118972894","ensembl_id":"ENSG00000133835"}},"GRch38":{"90":{"location":"5:119452443-119637199","ensembl_id":"ENSG00000133835"}}},"hgnc_date_symbol_changed":"1994-09-14"},"entity_type":"gene","entity_name":"HSD17B4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["20673864","28830375"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Perrault syndrome 1, #MIM 233400"],"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":"1.143","version_created":"2026-04-13T17:24:02.975530+10:00","relevant_disorders":[],"stats":{"number_of_genes":265,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ATX3","JOS"],"biotype":"protein_coding","hgnc_id":"HGNC:7106","gene_name":"ataxin 3","omim_gene":["607047"],"alias_name":null,"gene_symbol":"ATXN3","hgnc_symbol":"ATXN3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:92524896-92572965","ensembl_id":"ENSG00000066427"}},"GRch38":{"90":{"location":"14:92038652-92106621","ensembl_id":"ENSG00000066427"}}},"hgnc_date_symbol_changed":"2004-08-13"},"entity_type":"str","entity_name":"ATXN3_SCA3_CAG","confidence_level":"3","penetrance":null,"publications":["20301375","29325606"],"evidence":["Expert Review Green","Expert List"],"phenotypes":["Machado-Joseph disease MIM#109150","Spinocerebellar ataxia type 3"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CAG","chromosome":"14","grch37_coordinates":[92537355,92537396],"grch38_coordinates":[92071011,92071052],"normal_repeats":44,"pathogenic_repeats":60,"tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"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":[]}}]}