{"count":36049,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=230","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=228","results":[{"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":null,"publications":["31995250","31076878"],"evidence":["Expert Review Green","Literature"],"phenotypes":["GM2-gangliosidosis, several forms or Tay-Sachs disease MIM#272800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":25,"hash_id":null,"name":"Motor Neurone Disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"1.48","version_created":"2026-03-31T16:37:58.241144+11:00","relevant_disorders":[],"stats":{"number_of_genes":79,"number_of_strs":4,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8616","gene_name":"paired box 2","omim_gene":["167409"],"alias_name":null,"gene_symbol":"PAX2","hgnc_symbol":"PAX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:102495360-102589698","ensembl_id":"ENSG00000075891"}},"GRch38":{"90":{"location":"10:100735603-100829941","ensembl_id":"ENSG00000075891"}}},"hgnc_date_symbol_changed":"1993-06-07"},"entity_type":"gene","entity_name":"PAX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21654726"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Papillorenal syndrome, MIM# 120330","Renal coloboma syndrome, MONDO:0007352"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"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":null},{"gene_data":{"alias":["KIAA1858"],"biotype":"protein_coding","hgnc_id":"HGNC:23216","gene_name":"zinc finger protein 469","omim_gene":["612078"],"alias_name":null,"gene_symbol":"ZNF469","hgnc_symbol":"ZNF469","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:88493879-88507165","ensembl_id":"ENSG00000225614"}},"GRch38":{"90":{"location":"16:88427471-88440757","ensembl_id":"ENSG00000225614"}}},"hgnc_date_symbol_changed":"2003-10-15"},"entity_type":"gene","entity_name":"ZNF469","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28306229","28306225"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Brittle cornea syndrome 1,MIM# 229200"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":44,"hash_id":null,"name":"Aortopathy_Connective Tissue Disorders","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt contains genes that cause isolated thoracic aortic aneurysm; connective tissue disorders, including Ehlers Danlos syndromes and cutis laxa; and other syndromic/multi-system disorders where connective tissue involvement is prominent.\r\n\r\nThis panel incorporates assessments from the ClinGen Familial Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel (PMID: 30071989) and the  \r\nThe 2017 international classification of the Ehlers-Danlos syndromes (PMID: 28306229).\r\n\r\nThe panel has been compared against the Genomics England PanelApp 'Thoracic Aortic Aneurysm and Dissection' and 'Ehlers Danlos syndrome' panels, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England.\r\n\r\nFurther comparison and consolidation undertaken against the Genomics England/GMS 'Thoracic aortic aneurysm and dissection' panel V4.0 in July 2025.","status":"public","version":"1.105","version_created":"2026-02-05T18:09:24.690760+11:00","relevant_disorders":["Aortic aneurysm","HP:0004942;Joint dislocation","HP:0001373;Cutis laxa","HP:0000973; Ectopia lentis","HP:0001083;Arachnodactyly","HP:0001166"],"stats":{"number_of_genes":100,"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":["XGALT-1","beta4Gal-T7"],"biotype":"protein_coding","hgnc_id":"HGNC:930","gene_name":"beta-1,4-galactosyltransferase 7","omim_gene":["604327"],"alias_name":["galactosyltransferase I"],"gene_symbol":"B4GALT7","hgnc_symbol":"B4GALT7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:177027101-177037348","ensembl_id":"ENSG00000027847"}},"GRch38":{"90":{"location":"5:177600100-177610347","ensembl_id":"ENSG00000027847"}}},"hgnc_date_symbol_changed":"1999-12-07"},"entity_type":"gene","entity_name":"B4GALT7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28306229","26940150","24755949","23956117"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Ehlers-Danlos syndrome with short stature and limb anomalies, 130070","Spondylodysplastic EDS"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":44,"hash_id":null,"name":"Aortopathy_Connective Tissue Disorders","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt contains genes that cause isolated thoracic aortic aneurysm; connective tissue disorders, including Ehlers Danlos syndromes and cutis laxa; and other syndromic/multi-system disorders where connective tissue involvement is prominent.\r\n\r\nThis panel incorporates assessments from the ClinGen Familial Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel (PMID: 30071989) and the  \r\nThe 2017 international classification of the Ehlers-Danlos syndromes (PMID: 28306229).\r\n\r\nThe panel has been compared against the Genomics England PanelApp 'Thoracic Aortic Aneurysm and Dissection' and 'Ehlers Danlos syndrome' panels, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England.\r\n\r\nFurther comparison and consolidation undertaken against the Genomics England/GMS 'Thoracic aortic aneurysm and dissection' panel V4.0 in July 2025.","status":"public","version":"1.105","version_created":"2026-02-05T18:09:24.690760+11:00","relevant_disorders":["Aortic aneurysm","HP:0004942;Joint dislocation","HP:0001373;Cutis laxa","HP:0000973; Ectopia lentis","HP:0001083;Arachnodactyly","HP:0001166"],"stats":{"number_of_genes":100,"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:14938","gene_name":"phosphatidylinositol glycan anchor biosynthesis class T","omim_gene":["610272"],"alias_name":["GPI transamidase subunit"],"gene_symbol":"PIGT","hgnc_symbol":"PIGT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:44044717-44054884","ensembl_id":"ENSG00000124155"}},"GRch38":{"90":{"location":"20:45416067-45456934","ensembl_id":"ENSG00000124155"}}},"hgnc_date_symbol_changed":"2001-03-27"},"entity_type":"gene","entity_name":"PIGT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30976099","25943031","24906948","24906948","24906948","28728837","28728837","28728837"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM#\t615398, MONDO:0014165"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":68,"hash_id":null,"name":"Congenital Disorders of Glycosylation","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital Disorders of Glycosylation' panel v2.4 with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.85","version_created":"2026-04-02T10:46:27.496905+11:00","relevant_disorders":["Abnormal transferrin saturation","HP:0040135"],"stats":{"number_of_genes":141,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FSP2","ADPSP","KIAA1083"],"biotype":"protein_coding","hgnc_id":"HGNC:11233","gene_name":"spastin","omim_gene":["604277"],"alias_name":null,"gene_symbol":"SPAST","hgnc_symbol":"SPAST","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:32288680-32382706","ensembl_id":"ENSG00000021574"}},"GRch38":{"90":{"location":"2:32063611-32157637","ensembl_id":"ENSG00000021574"}}},"hgnc_date_symbol_changed":"2005-03-17"},"entity_type":"gene","entity_name":"SPAST","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32989326","38693247","41000004"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cerebral Palsy MONDO:0006497, SPAST-related"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ADAR1"],"biotype":"protein_coding","hgnc_id":"HGNC:225","gene_name":"adenosine deaminase, RNA specific","omim_gene":["146920"],"alias_name":null,"gene_symbol":"ADAR","hgnc_symbol":"ADAR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:154554538-154600475","ensembl_id":"ENSG00000160710"}},"GRch38":{"90":{"location":"1:154582062-154627999","ensembl_id":"ENSG00000160710"}}},"hgnc_date_symbol_changed":"1995-12-12"},"entity_type":"gene","entity_name":"ADAR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33528536","34702576"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Aicardi-Goutieres syndrome 6, MIM#\t615010"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ11315","N143","DCAF19"],"biotype":"protein_coding","hgnc_id":"HGNC:12760","gene_name":"bromodomain and WD repeat domain containing 1","omim_gene":null,"alias_name":null,"gene_symbol":"BRWD1","hgnc_symbol":"BRWD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:40556102-40693485","ensembl_id":"ENSG00000185658"}},"GRch38":{"90":{"location":"21:39184176-39321559","ensembl_id":"ENSG00000185658"}}},"hgnc_date_symbol_changed":"2005-05-13"},"entity_type":"gene","entity_name":"BRWD1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["33389130"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Ciliary dyskinesia, primary, 51, MIM# 620438"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["disputed"],"panel":{"id":82,"hash_id":null,"name":"Ciliary Dyskinesia","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.75","version_created":"2026-03-30T10:17:46.701193+11:00","relevant_disorders":["Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205"],"stats":{"number_of_genes":77,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CGI-97","FLJ10917","SDS","SWDS"],"biotype":"protein_coding","hgnc_id":"HGNC:19440","gene_name":"SBDS, ribosome maturation factor","omim_gene":["607444"],"alias_name":null,"gene_symbol":"SBDS","hgnc_symbol":"SBDS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:66452664-66460588","ensembl_id":"ENSG00000126524"}},"GRch38":{"90":{"location":"7:66987677-66995601","ensembl_id":"ENSG00000126524"}}},"hgnc_date_symbol_changed":"2003-07-02"},"entity_type":"gene","entity_name":"SBDS","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["22554078"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Shwachman-Diamond syndrome, MIM# 260400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":84,"hash_id":null,"name":"Ciliopathies","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":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":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["17666061","27861123","30790670","33367594"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM#\t614021"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":92,"hash_id":null,"name":"Catecholaminergic Polymorphic Ventricular Tachycardia","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS.","status":"public","version":"1.0","version_created":"2026-03-24T17:13:14.934982+11:00","relevant_disorders":["Polymorphic ventricular tachycardia HP:0031677"],"stats":{"number_of_genes":10,"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":["WNT-4"],"biotype":"protein_coding","hgnc_id":"HGNC:12783","gene_name":"Wnt family member 4","omim_gene":["603490"],"alias_name":null,"gene_symbol":"WNT4","hgnc_symbol":"WNT4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:22443798-22470462","ensembl_id":"ENSG00000162552"}},"GRch38":{"90":{"location":"1:22117305-22143969","ensembl_id":"ENSG00000162552"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"WNT4","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["22503279","21377155","16959810"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Mullerian aplasia and hyperandrogenism (MIM#158330)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":99,"hash_id":null,"name":"Differences of Sex Development","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.50","version_created":"2026-04-12T14:14:27.453739+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":142,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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"],"phenotypes":["Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":115,"hash_id":null,"name":"Hydrocephalus_Ventriculomegaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.","status":"public","version":"0.134","version_created":"2026-01-28T12:49:29.963583+11:00","relevant_disorders":["Hydrocephalus","HP:0000238; Ventriculomegaly","HP:0002119"],"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":null},{"gene_data":{"alias":["Ssc1"],"biotype":"protein_coding","hgnc_id":"HGNC:14418","gene_name":"ELOVL fatty acid elongase 1","omim_gene":["611813"],"alias_name":null,"gene_symbol":"ELOVL1","hgnc_symbol":"ELOVL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:43829068-43833696","ensembl_id":"ENSG00000066322"}},"GRch38":{"90":{"location":"1:43363397-43368074","ensembl_id":"ENSG00000066322"}}},"hgnc_date_symbol_changed":"2001-01-18"},"entity_type":"gene","entity_name":"ELOVL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30487246","29496980","23689133"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":124,"hash_id":null,"name":"Ichthyosis and Porokeratosis","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH. It contains genes that cause non-syndromic and syndromic ichthyosis and porokeratosis.","status":"public","version":"1.25","version_created":"2026-03-19T12:26:58.874178+11:00","relevant_disorders":["Ichthyosis","HP:0008064;Porokeratosis","HP:0200044"],"stats":{"number_of_genes":65,"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":"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":["XPB","BTF2","RAD25","TFIIH","GTF2H"],"biotype":"protein_coding","hgnc_id":"HGNC:3435","gene_name":"ERCC excision repair 3, TFIIH core complex helicase subunit","omim_gene":["133510"],"alias_name":["xeroderma pigmentosum group B complementing"],"gene_symbol":"ERCC3","hgnc_symbol":"ERCC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:128014866-128051752","ensembl_id":"ENSG00000163161"}},"GRch38":{"90":{"location":"2:127257290-127294176","ensembl_id":"ENSG00000163161"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ERCC3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["9012405","28913623"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Trichothiodystrophy 2, photosensitive MIM#616390"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":124,"hash_id":null,"name":"Ichthyosis and Porokeratosis","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH. It contains genes that cause non-syndromic and syndromic ichthyosis and porokeratosis.","status":"public","version":"1.25","version_created":"2026-03-19T12:26:58.874178+11:00","relevant_disorders":["Ichthyosis","HP:0008064;Porokeratosis","HP:0200044"],"stats":{"number_of_genes":65,"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":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CEP90"],"biotype":"protein_coding","hgnc_id":"HGNC:23352","gene_name":"progesterone immunomodulatory binding factor 1","omim_gene":["607532"],"alias_name":["progesterone-induced blocking factor 1"],"gene_symbol":"PIBF1","hgnc_symbol":"PIBF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:73356197-73590591","ensembl_id":"ENSG00000083535"}},"GRch38":{"90":{"location":"13:72782059-73016461","ensembl_id":"ENSG00000083535"}}},"hgnc_date_symbol_changed":"2007-10-17"},"entity_type":"gene","entity_name":"PIBF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26167768","30858804","29695797","33004012"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Joubert syndrome 33, OMIM #617767"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":129,"hash_id":null,"name":"Joubert syndrome and other neurological ciliopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes associated with Joubert syndrome, Meckel Gruber syndrome and other ciliopathies where structural CNS abnormalities are prominent.\r\n\r\nPlease consider also applying the Cerebellar and Pontocerebellar Hypoplasia panel in the presence of more non-specific cerebellar abnormalities and applying the Ciliopathy panel in the presence of additional clinical features suggestive of a multi-system ciliopathy.","status":"public","version":"1.33","version_created":"2025-12-16T12:55:34.757878+11:00","relevant_disorders":["Molar tooth sign on MRI","HP:0002419; Joubert syndrome","MONDO:0018772"],"stats":{"number_of_genes":69,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"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":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["38141607"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Polydactyly-macrocephaly syndrome, MIM# 620712"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PDI3"],"biotype":"protein_coding","hgnc_id":"HGNC:18337","gene_name":"peptidyl arginine deiminase 3","omim_gene":["606755"],"alias_name":null,"gene_symbol":"PADI3","hgnc_symbol":"PADI3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:17575593-17610728","ensembl_id":"ENSG00000142619"}},"GRch38":{"90":{"location":"1:17249098-17284233","ensembl_id":"ENSG00000142619"}}},"hgnc_date_symbol_changed":"2002-03-17"},"entity_type":"gene","entity_name":"PADI3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27866708","22381266","30763140"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Uncombable hair syndrome - MIM#191480"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["W117m"],"biotype":"protein_coding","hgnc_id":"HGNC:17474","gene_name":"endothelial cell adhesion molecule","omim_gene":["614281"],"alias_name":null,"gene_symbol":"ESAM","hgnc_symbol":"ESAM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:124622026-124632186","ensembl_id":"ENSG00000149564"}},"GRch38":{"90":{"location":"11:124752583-124762290","ensembl_id":"ENSG00000149564"}}},"hgnc_date_symbol_changed":"2003-11-26"},"entity_type":"gene","entity_name":"ESAM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36996813"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ASF","SF2","SRp30a","SF2p33","MGC5228"],"biotype":"protein_coding","hgnc_id":"HGNC:10780","gene_name":"serine and arginine rich splicing factor 1","omim_gene":["600812"],"alias_name":["splicing factor 2","pre-mRNA-splicing factor SF2, P33 subunit","alternate splicing factor","SR splicing factor 1"],"gene_symbol":"SRSF1","hgnc_symbol":"SRSF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:56080721-56084707","ensembl_id":"ENSG00000136450"}},"GRch38":{"90":{"location":"17:58003360-58007346","ensembl_id":"ENSG00000136450"}}},"hgnc_date_symbol_changed":"2010-06-22"},"entity_type":"gene","entity_name":"SRSF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37071997"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 620489"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ37706","RAD26L"],"biotype":"protein_coding","hgnc_id":"HGNC:26922","gene_name":"ERCC excision repair 6 like 2","omim_gene":["615667"],"alias_name":null,"gene_symbol":"ERCC6L2","hgnc_symbol":"ERCC6L2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:98637983-98776842","ensembl_id":"ENSG00000182150"}},"GRch38":{"90":{"location":"9:95875701-96014571","ensembl_id":"ENSG00000182150"}}},"hgnc_date_symbol_changed":"2012-03-30"},"entity_type":"gene","entity_name":"ERCC6L2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24507776","27185855"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bone marrow failure syndrome 2, MIM# 615715"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10530","HPC2"],"biotype":"protein_coding","hgnc_id":"HGNC:14198","gene_name":"elaC ribonuclease Z 2","omim_gene":["605367"],"alias_name":["tRNase Z (long form)"],"gene_symbol":"ELAC2","hgnc_symbol":"ELAC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:12895708-12921504","ensembl_id":"ENSG00000006744"}},"GRch38":{"90":{"location":"17:12992391-13018187","ensembl_id":"ENSG00000006744"}}},"hgnc_date_symbol_changed":"2000-12-14"},"entity_type":"gene","entity_name":"ELAC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23849775","31045291"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Combined oxidative phosphorylation deficiency 17, MIM#615440"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AIF","CMTX4"],"biotype":"protein_coding","hgnc_id":"HGNC:8768","gene_name":"apoptosis inducing factor mitochondria associated 1","omim_gene":["300169"],"alias_name":null,"gene_symbol":"AIFM1","hgnc_symbol":"AIFM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:129263337-129299861","ensembl_id":"ENSG00000156709"}},"GRch38":{"90":{"location":"X:130129362-130165887","ensembl_id":"ENSG00000156709"}}},"hgnc_date_symbol_changed":"2006-11-16"},"entity_type":"gene","entity_name":"AIFM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28842795"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Combined oxidative phosphorylation deficiency 6, 300816","Cowchock syndrome, 310490","Deafness, X-linked 5, 300614","Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ30058"],"biotype":"protein_coding","hgnc_id":"HGNC:26388","gene_name":"Rho GTPase activating protein 36","omim_gene":["300937"],"alias_name":null,"gene_symbol":"ARHGAP36","hgnc_symbol":"ARHGAP36","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:130192216-130223857","ensembl_id":"ENSG00000147256"}},"GRch38":{"90":{"location":"X:131058242-131089883","ensembl_id":"ENSG00000147256"}}},"hgnc_date_symbol_changed":"2010-03-01"},"entity_type":"gene","entity_name":"ARHGAP36","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"Other","publications":["35986704","40015599"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Bazex-Dupre-Christol syndrome, MIM# 301845"],"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":["SV/CNV","regulatory region"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HIMAP3","IAN5"],"biotype":"protein_coding","hgnc_id":"HGNC:18005","gene_name":"GTPase, IMAP family member 5","omim_gene":["608086"],"alias_name":["immune-associated nucleotide-binding protein 5"],"gene_symbol":"GIMAP5","hgnc_symbol":"GIMAP5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:150419341-150447121","ensembl_id":"ENSG00000196329"}},"GRch38":{"90":{"location":"7:150722253-150750033","ensembl_id":"ENSG00000196329"}}},"hgnc_date_symbol_changed":"2004-10-30"},"entity_type":"gene","entity_name":"GIMAP5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33956074"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Portal hypertension, noncirrhotic, 2, MIM#\t619463"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["EAAC1","EAAT3"],"biotype":"protein_coding","hgnc_id":"HGNC:10939","gene_name":"solute carrier family 1 member 1","omim_gene":["133550"],"alias_name":null,"gene_symbol":"SLC1A1","hgnc_symbol":"SLC1A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:4490444-4587469","ensembl_id":"ENSG00000106688"}},"GRch38":{"90":{"location":"9:4490444-4587469","ensembl_id":"ENSG00000106688"}}},"hgnc_date_symbol_changed":"1994-02-15"},"entity_type":"gene","entity_name":"SLC1A1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["21123949"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Dicarboxylic aminoaciduria, MIM# 222730"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HHG1","SMMCI","TPT","TPTPS","MCOPCB5"],"biotype":"protein_coding","hgnc_id":"HGNC:10848","gene_name":"sonic hedgehog","omim_gene":["600725"],"alias_name":null,"gene_symbol":"SHH","hgnc_symbol":"SHH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:155592680-155604967","ensembl_id":"ENSG00000164690"}},"GRch38":{"90":{"location":"7:155799986-155812273","ensembl_id":"ENSG00000164690"}}},"hgnc_date_symbol_changed":"1995-03-10"},"entity_type":"gene","entity_name":"SHH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21976454","12503095","22791840","19057928","19533790","38562108","29321670","32703609"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Holoprosencephaly 3, MIM#142945","Microphthalmia with coloboma 5, MIM#611638","Single median maxillary central incisor, MIM#147250","Hypertelorism, ACC, intellectual disability"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TIL4","CD282"],"biotype":"protein_coding","hgnc_id":"HGNC:11848","gene_name":"toll like receptor 2","omim_gene":["603028"],"alias_name":null,"gene_symbol":"TLR2","hgnc_symbol":"TLR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:154622652-154626851","ensembl_id":"ENSG00000137462"}},"GRch38":{"90":{"location":"4:153701500-153705699","ensembl_id":"ENSG00000137462"}}},"hgnc_date_symbol_changed":"1998-06-25"},"entity_type":"gene","entity_name":"TLR2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:29366","gene_name":"centrosomal protein 295","omim_gene":["617728"],"alias_name":null,"gene_symbol":"CEP295","hgnc_symbol":"CEP295","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:93394805-93463522","ensembl_id":"ENSG00000166004"}},"GRch38":{"90":{"location":"11:93661639-93730358","ensembl_id":"ENSG00000166004"}}},"hgnc_date_symbol_changed":"2014-09-25"},"entity_type":"gene","entity_name":"CEP295","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38154379"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Seckel syndrome 11, OMIM # 620767"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DKFZP434J212","KIAA0449"],"biotype":"protein_coding","hgnc_id":"HGNC:29442","gene_name":"kinesin family member 21B","omim_gene":["608322"],"alias_name":null,"gene_symbol":"KIF21B","hgnc_symbol":"KIF21B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:200938520-200992828","ensembl_id":"ENSG00000116852"}},"GRch38":{"90":{"location":"1:200969390-201023700","ensembl_id":"ENSG00000116852"}}},"hgnc_date_symbol_changed":"2004-11-10"},"entity_type":"gene","entity_name":"KIF21B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["32415109"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder MONDO:0700092, KIF21B-related"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3029","gene_name":"developmentally regulated GTP binding protein 1","omim_gene":["603952"],"alias_name":null,"gene_symbol":"DRG1","hgnc_symbol":"DRG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:31795509-31924726","ensembl_id":"ENSG00000185721"}},"GRch38":{"90":{"location":"22:31399523-31530634","ensembl_id":"ENSG00000185721"}}},"hgnc_date_symbol_changed":"1994-01-21"},"entity_type":"gene","entity_name":"DRG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37179472"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Tan-Almurshedi syndrome, MIM# 620641"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CALC","EFHA3","FLJ12684"],"biotype":"protein_coding","hgnc_id":"HGNC:1530","gene_name":"mitochondrial calcium uptake 1","omim_gene":["605084"],"alias_name":null,"gene_symbol":"MICU1","hgnc_symbol":"MICU1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:74127098-74385899","ensembl_id":"ENSG00000107745"}},"GRch38":{"90":{"location":"10:72367327-72626191","ensembl_id":"ENSG00000107745"}}},"hgnc_date_symbol_changed":"2011-06-23"},"entity_type":"gene","entity_name":"MICU1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24336167","29721912","32395406"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Myopathy with extrapyramidal signs, MIM# 615673"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PNK","PKH","FLJ21324","PRED79","FLJ31940","MGC15873"],"biotype":"protein_coding","hgnc_id":"HGNC:8819","gene_name":"pyridoxal kinase","omim_gene":["179020"],"alias_name":null,"gene_symbol":"PDXK","hgnc_symbol":"PDXK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:45138975-45182188","ensembl_id":"ENSG00000160209"}},"GRch38":{"90":{"location":"21:43719094-43762307","ensembl_id":"ENSG00000160209"}}},"hgnc_date_symbol_changed":"1998-12-03"},"entity_type":"gene","entity_name":"PDXK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32522499","31187503","27604308"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Axonal polyneuropathy","optic atrophy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":149,"hash_id":null,"name":"Optic Atrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH and contains genes associated with isolated and complex optic atrophy.","status":"public","version":"1.72","version_created":"2026-03-31T18:57:17.873049+11:00","relevant_disorders":["Optic atrophy","HP:0000648"],"stats":{"number_of_genes":80,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PEBP2A2","AMLCR1"],"biotype":"protein_coding","hgnc_id":"HGNC:10471","gene_name":"runt related transcription factor 1","omim_gene":["151385"],"alias_name":["aml1 oncogene"],"gene_symbol":"RUNX1","hgnc_symbol":"RUNX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:36160098-37376965","ensembl_id":"ENSG00000159216"}},"GRch38":{"90":{"location":"21:34787801-36004667","ensembl_id":"ENSG00000159216"}}},"hgnc_date_symbol_changed":"1991-08-20"},"entity_type":"gene","entity_name":"RUNX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Leukemia, acute myeloid, MIM# 601626"],"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":["PPI5PIV","CORS1","pharbin"],"biotype":"protein_coding","hgnc_id":"HGNC:21474","gene_name":"inositol polyphosphate-5-phosphatase E","omim_gene":["613037"],"alias_name":null,"gene_symbol":"INPP5E","hgnc_symbol":"INPP5E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139323071-139334274","ensembl_id":"ENSG00000148384"}},"GRch38":{"90":{"location":"9:136428619-136439823","ensembl_id":"ENSG00000148384"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"INPP5E","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"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":null},{"gene_data":{"alias":["MFH-1"],"biotype":"protein_coding","hgnc_id":"HGNC:3801","gene_name":"forkhead box C2","omim_gene":["602402"],"alias_name":["mesenchyme forkhead 1"],"gene_symbol":"FOXC2","hgnc_symbol":"FOXC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:86600857-86602539","ensembl_id":"ENSG00000176692"}},"GRch38":{"90":{"location":"16:86567251-86569728","ensembl_id":"ENSG00000176692"}}},"hgnc_date_symbol_changed":"1997-02-14"},"entity_type":"gene","entity_name":"FOXC2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["21918810","25252123"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus\t153400","infant pulmonary lymphangiectasia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":162,"hash_id":null,"name":"Pulmonary Fibrosis_Interstitial Lung Disease","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.","status":"public","version":"1.10","version_created":"2026-03-17T11:39:32.713501+11:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":97,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LAMP","TSC403","DC-LAMP","DCLAMP","CD208"],"biotype":"protein_coding","hgnc_id":"HGNC:14582","gene_name":"lysosomal associated membrane protein 3","omim_gene":["605883"],"alias_name":null,"gene_symbol":"LAMP3","hgnc_symbol":"LAMP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:182840001-182881627","ensembl_id":"ENSG00000078081"}},"GRch38":{"90":{"location":"3:183122213-183163839","ensembl_id":"ENSG00000078081"}}},"hgnc_date_symbol_changed":"2001-06-29"},"entity_type":"gene","entity_name":"LAMP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40023045","34161347","41653023"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Interstitial lung disease, MONDO:0015925, LAMP3-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":162,"hash_id":null,"name":"Pulmonary Fibrosis_Interstitial Lung Disease","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.","status":"public","version":"1.10","version_created":"2026-03-17T11:39:32.713501+11:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":97,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["E46L","FLJ37990"],"biotype":"protein_coding","hgnc_id":"HGNC:10549","gene_name":"ataxin 10","omim_gene":["611150"],"alias_name":null,"gene_symbol":"ATXN10","hgnc_symbol":"ATXN10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:46067678-46241187","ensembl_id":"ENSG00000130638"}},"GRch38":{"90":{"location":"22:45671798-45845307","ensembl_id":"ENSG00000130638"}}},"hgnc_date_symbol_changed":"2004-08-12"},"entity_type":"gene","entity_name":"ATXN10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21565611"],"evidence":["Expert Review Red","KidGen_CilioNephronop v38.1.0"],"phenotypes":["Nephronophthisis"],"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":["FBHOk","FBH3"],"biotype":"protein_coding","hgnc_id":"HGNC:565","gene_name":"adaptor related protein complex 2 sigma 1 subunit","omim_gene":["602242"],"alias_name":null,"gene_symbol":"AP2S1","hgnc_symbol":"AP2S1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:47341393-47354249","ensembl_id":"ENSG00000042753"}},"GRch38":{"90":{"location":"19:46838136-46850992","ensembl_id":"ENSG00000042753"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP2S1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31981491","33057194","35982160","35982159"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, AP2S1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SBP2"],"biotype":"protein_coding","hgnc_id":"HGNC:30972","gene_name":"SECIS binding protein 2","omim_gene":["607693"],"alias_name":["Sec insertion sequence-binding protein 2"],"gene_symbol":"SECISBP2","hgnc_symbol":"SECISBP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:91933421-91974557","ensembl_id":"ENSG00000187742"}},"GRch38":{"90":{"location":"9:89318506-89359662","ensembl_id":"ENSG00000187742"}}},"hgnc_date_symbol_changed":"2004-05-10"},"entity_type":"gene","entity_name":"SECISBP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39315526"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Thyroid hormone metabolism, abnormal, 1, MIM# 609698"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["trnG"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7486","gene_name":"mitochondrially encoded tRNA glycine","omim_gene":["590035"],"alias_name":null,"gene_symbol":"MT-TG","hgnc_symbol":"MT-TG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:9991-10058","ensembl_id":"ENSG00000210164"}},"GRch38":{"90":{"location":"MT:9991-10058","ensembl_id":"ENSG00000210164"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["8079988","9199564","11971101","16120360","32337339","35432167","10090480"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TG-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PPP1R115"],"biotype":"protein_coding","hgnc_id":"HGNC:8104","gene_name":"occludin","omim_gene":["602876"],"alias_name":["tight junction protein occludin TM4 minus","phosphatase 1, regulatory subunit 115"],"gene_symbol":"OCLN","hgnc_symbol":"OCLN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:68788119-68853931","ensembl_id":"ENSG00000197822"}},"GRch38":{"90":{"location":"5:69492292-69558104","ensembl_id":"ENSG00000197822"}}},"hgnc_date_symbol_changed":"1998-01-20"},"entity_type":"gene","entity_name":"OCLN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hEPG5"],"biotype":"protein_coding","hgnc_id":"HGNC:29331","gene_name":"ectopic P-granules autophagy protein 5 homolog","omim_gene":["615068"],"alias_name":null,"gene_symbol":"EPG5","hgnc_symbol":"EPG5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:43427574-43547240","ensembl_id":"ENSG00000152223"}},"GRch38":{"90":{"location":"18:45847609-45967274","ensembl_id":"ENSG00000152223"}}},"hgnc_date_symbol_changed":"2011-03-02"},"entity_type":"gene","entity_name":"EPG5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23222957","26917586"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Vici syndrome, MIM# 242840"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC14993","MGC23778","PRO1992","dJ382I10.6","DALRD2"],"biotype":"protein_coding","hgnc_id":"HGNC:21406","gene_name":"arginyl-tRNA synthetase 2, mitochondrial","omim_gene":["611524"],"alias_name":["arginine tRNA ligase 2, mitochondrial (putative)"],"gene_symbol":"RARS2","hgnc_symbol":"RARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:88224096-88299721","ensembl_id":"ENSG00000146282"}},"GRch38":{"90":{"location":"6:87514378-87590003","ensembl_id":"ENSG00000146282"}}},"hgnc_date_symbol_changed":"2007-02-23"},"entity_type":"gene","entity_name":"RARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:746","gene_name":"argininosuccinate lyase","omim_gene":["608310"],"alias_name":null,"gene_symbol":"ASL","hgnc_symbol":"ASL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:65540785-65558545","ensembl_id":"ENSG00000126522"}},"GRch38":{"90":{"location":"7:66075798-66093558","ensembl_id":"ENSG00000126522"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ASL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":["treatable"],"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":["EBP"],"biotype":"protein_coding","hgnc_id":"HGNC:4298","gene_name":"galactosidase beta 1","omim_gene":["611458"],"alias_name":null,"gene_symbol":"GLB1","hgnc_symbol":"GLB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:33038100-33138722","ensembl_id":"ENSG00000170266"}},"GRch38":{"90":{"location":"3:32996608-33097230","ensembl_id":"ENSG00000170266"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"GLB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","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":["RAD51L2","FANCO"],"biotype":"protein_coding","hgnc_id":"HGNC:9820","gene_name":"RAD51 paralog C","omim_gene":["602774"],"alias_name":null,"gene_symbol":"RAD51C","hgnc_symbol":"RAD51C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:56769934-56811703","ensembl_id":"ENSG00000108384"}},"GRch38":{"90":{"location":"17:58692573-58735611","ensembl_id":"ENSG00000108384"}}},"hgnc_date_symbol_changed":"1998-02-26"},"entity_type":"gene","entity_name":"RAD51C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Fanconi anaemia, complementation group O, MIM# 613390"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["UNC18B","Hunc18b"],"biotype":"protein_coding","hgnc_id":"HGNC:11445","gene_name":"syntaxin binding protein 2","omim_gene":["601717"],"alias_name":null,"gene_symbol":"STXBP2","hgnc_symbol":"STXBP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:7701767-7712759","ensembl_id":"ENSG00000076944"}},"GRch38":{"90":{"location":"19:7636881-7647873","ensembl_id":"ENSG00000076944"}}},"hgnc_date_symbol_changed":"1996-12-27"},"entity_type":"gene","entity_name":"STXBP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.43","version_created":"2026-04-06T13:01:39.255117+10:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":118,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["URP2","KIND3","MIG2B","MGC10966","MIG-2","UNC112C"],"biotype":"protein_coding","hgnc_id":"HGNC:23151","gene_name":"fermitin family member 3","omim_gene":["607901"],"alias_name":["kindlin-3"],"gene_symbol":"FERMT3","hgnc_symbol":"FERMT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:63974150-63991354","ensembl_id":"ENSG00000149781"}},"GRch38":{"90":{"location":"11:64206678-64223886","ensembl_id":"ENSG00000149781"}}},"hgnc_date_symbol_changed":"2007-12-14"},"entity_type":"gene","entity_name":"FERMT3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19234460","19064721"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Leukocyte adhesion deficiency, type III, MIM# 612840"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":233,"hash_id":null,"name":"Phagocyte Defects","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with abnormalities in phagocyte number, function or both. Susceptibility to infection from phagocytic dysfunction ranges from mild, recurrent skin infections to overwhelming, fatal systemic infection. Affected individuals are more susceptible to bacterial and fungal infections but have a normal resistance to viral infections. Most are diagnosed in infancy due to the severity of the infection or the unusual presentation of the organism, but some are diagnosed in adulthood. Includes:\r\n- Congenital Neutropenias\r\n- Defects of Motility\r\n- Defects of Respiratory Burst\r\n- Other Non-Lymphoid Defects\r\n\r\nUpdated with the 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications. \r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).\r\n\r\nThis panel was merged with and replaces the Melbourne Genomics Immunology Flagship Neutrophil Defects gene panel (22/03/2021).","status":"public","version":"1.45","version_created":"2025-12-15T10:26:57.519304+11:00","relevant_disorders":["Unusual infection","HP:0032101"],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FGFIBP"],"biotype":"protein_coding","hgnc_id":"HGNC:3705","gene_name":"FGF1 intracellular binding protein","omim_gene":["608296"],"alias_name":null,"gene_symbol":"FIBP","hgnc_symbol":"FIBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65651212-65656010","ensembl_id":"ENSG00000172500"}},"GRch38":{"90":{"location":"11:65883741-65888539","ensembl_id":"ENSG00000172500"}}},"hgnc_date_symbol_changed":"1999-06-07"},"entity_type":"gene","entity_name":"FIBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["40099975","37876348","36919607","27183861","26660953"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Thauvin-Robinet-Faivre syndrome, MIM#617107"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"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":["SPMSY","SpS","MRSR"],"biotype":"protein_coding","hgnc_id":"HGNC:11123","gene_name":"spermine synthase","omim_gene":["300105"],"alias_name":null,"gene_symbol":"SMS","hgnc_symbol":"SMS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:21958691-22025798","ensembl_id":"ENSG00000102172"}},"GRch38":{"90":{"location":"X:21940573-21994835","ensembl_id":"ENSG00000102172"}}},"hgnc_date_symbol_changed":"1997-11-07"},"entity_type":"gene","entity_name":"SMS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30237987","34177437","32838743","23805436"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583","Syndromic X-linked intellectual disability Snyder type, MONDO:0010664"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"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":["KIAA1260","NLGN","HLNX"],"biotype":"protein_coding","hgnc_id":"HGNC:14287","gene_name":"neuroligin 4, X-linked","omim_gene":["300427"],"alias_name":null,"gene_symbol":"NLGN4X","hgnc_symbol":"NLGN4X","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:5758678-6146904","ensembl_id":"ENSG00000146938"}},"GRch38":{"90":{"location":"X:5840637-6228863","ensembl_id":"ENSG00000146938"}}},"hgnc_date_symbol_changed":"2004-05-26"},"entity_type":"gene","entity_name":"NLGN4X","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16648374","28263302","12669065","18231125","10071191","29428674","26350204","14963808","23352163"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Mental retardation, X-linked, MIM# 300495"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"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":["KIAA1025","TRAP240L"],"biotype":"protein_coding","hgnc_id":"HGNC:22962","gene_name":"mediator complex subunit 13 like","omim_gene":["608771"],"alias_name":null,"gene_symbol":"MED13L","hgnc_symbol":"MED13L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:116395711-116715143","ensembl_id":"ENSG00000123066"}},"GRch38":{"90":{"location":"12:115953872-116277338","ensembl_id":"ENSG00000123066"}}},"hgnc_date_symbol_changed":"2007-07-30"},"entity_type":"gene","entity_name":"MED13L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28645799","29511999"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["syndromic intellectual disability MONDO:0000508"],"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":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"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":["MEK2"],"biotype":"protein_coding","hgnc_id":"HGNC:6842","gene_name":"mitogen-activated protein kinase kinase 2","omim_gene":["601263"],"alias_name":null,"gene_symbol":"MAP2K2","hgnc_symbol":"MAP2K2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:4090319-4124126","ensembl_id":"ENSG00000126934"}},"GRch38":{"90":{"location":"19:4090321-4124129","ensembl_id":"ENSG00000126934"}}},"hgnc_date_symbol_changed":"1993-11-05"},"entity_type":"gene","entity_name":"MAP2K2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["20358587","16439621","18042262"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Cardiofaciocutaneous syndrome 3, MIM# 615279"],"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":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"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":["KIAA1190","DKFZp434N0615"],"biotype":"protein_coding","hgnc_id":"HGNC:26955","gene_name":"zinc finger and BTB domain containing 47","omim_gene":null,"alias_name":null,"gene_symbol":"ZBTB47","hgnc_symbol":"ZBTB47","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:42695176-42709072","ensembl_id":"ENSG00000114853"}},"GRch38":{"90":{"location":"3:42653684-42665854","ensembl_id":"ENSG00000114853"}}},"hgnc_date_symbol_changed":"2006-09-19"},"entity_type":"gene","entity_name":"ZBTB47","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37743782"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO#0700092), ZBTB47-related"],"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":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SIMP","FLJ90106","STT3-B"],"biotype":"protein_coding","hgnc_id":"HGNC:30611","gene_name":"STT3B, catalytic subunit of the oligosaccharyltransferase complex","omim_gene":["608605"],"alias_name":["source of immunodominant MHC associated peptides","dolichyl-diphosphooligosaccharide protein glycotransferase"],"gene_symbol":"STT3B","hgnc_symbol":"STT3B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:31574130-31679112","ensembl_id":"ENSG00000163527"}},"GRch38":{"90":{"location":"3:31532638-31637622","ensembl_id":"ENSG00000163527"}}},"hgnc_date_symbol_changed":"2006-02-07"},"entity_type":"gene","entity_name":"STT3B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["PMID: 23842455"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["?Congenital disorder of glycosylation, type Ix","OMIM #615597"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:12630","gene_name":"ubiquitin specific peptidase 7","omim_gene":["602519"],"alias_name":null,"gene_symbol":"USP7","hgnc_symbol":"USP7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:8985951-9058371","ensembl_id":"ENSG00000187555"}},"GRch38":{"90":{"location":"16:8892094-8964514","ensembl_id":"ENSG00000187555"}}},"hgnc_date_symbol_changed":"1998-10-12"},"entity_type":"gene","entity_name":"USP7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30679821","26365382"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hao-Fountain syndrome, MIM# 616863","MONDO:0014805","Intellectual disability","Autism"],"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":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CGI-97","FLJ10917","SDS","SWDS"],"biotype":"protein_coding","hgnc_id":"HGNC:19440","gene_name":"SBDS, ribosome maturation factor","omim_gene":["607444"],"alias_name":null,"gene_symbol":"SBDS","hgnc_symbol":"SBDS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:66452664-66460588","ensembl_id":"ENSG00000126524"}},"GRch38":{"90":{"location":"7:66987677-66995601","ensembl_id":"ENSG00000126524"}}},"hgnc_date_symbol_changed":"2003-07-02"},"entity_type":"gene","entity_name":"SBDS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Expert Review","UKGTN","Expert Review Green","Radboud University Medical Center, Nijmegen","NHS GMS","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Shwachman-Diamond syndrome\t260400","Shwachman-Diamond syndrome 260400"],"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":["BETA2","BHF-1","NeuroD","bHLHa3","MODY6"],"biotype":"protein_coding","hgnc_id":"HGNC:7762","gene_name":"neuronal differentiation 1","omim_gene":["601724"],"alias_name":["beta-cell E-box transactivator 2","neurogenic helix-loop-helix protein NEUROD"],"gene_symbol":"NEUROD1","hgnc_symbol":"NEUROD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:182537815-182545603","ensembl_id":"ENSG00000162992"}},"GRch38":{"90":{"location":"2:181673088-181680876","ensembl_id":"ENSG00000162992"}}},"hgnc_date_symbol_changed":"1996-03-12"},"entity_type":"gene","entity_name":"NEUROD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25477324","29521454","25684977"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Retinitis pigmentosa","Retinopathy","Permanent neonatal diabetes"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":277,"hash_id":null,"name":"Retinitis pigmentosa","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.","status":"public","version":"0.245","version_created":"2026-03-28T13:33:23.781842+11:00","relevant_disorders":["Abnormal retinal morphology","HP:0000479"],"stats":{"number_of_genes":159,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SSV"],"biotype":"protein_coding","hgnc_id":"HGNC:8800","gene_name":"platelet derived growth factor subunit B","omim_gene":["190040"],"alias_name":["oncogene SIS","becaplermin"],"gene_symbol":"PDGFB","hgnc_symbol":"PDGFB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:39619364-39640756","ensembl_id":"ENSG00000100311"}},"GRch38":{"90":{"location":"22:39223359-39244751","ensembl_id":"ENSG00000100311"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PDGFB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Basal ganglia calcification, idiopathic, 5 615483"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SCO1L"],"biotype":"protein_coding","hgnc_id":"HGNC:10604","gene_name":"SCO2, cytochrome c oxidase assembly protein","omim_gene":["604272"],"alias_name":null,"gene_symbol":"SCO2","hgnc_symbol":"SCO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:50961997-50964868","ensembl_id":"ENSG00000130489"}},"GRch38":{"90":{"location":"22:50523568-50525606","ensembl_id":"ENSG00000130489"}}},"hgnc_date_symbol_changed":"1999-10-12"},"entity_type":"gene","entity_name":"SCO2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 604377"],"mode_of_inheritance":"BIALLELIC, 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":null},{"gene_data":{"alias":["MMAC1","TEP1","PTEN1"],"biotype":"protein_coding","hgnc_id":"HGNC:9588","gene_name":"phosphatase and tensin homolog","omim_gene":["601728"],"alias_name":["mutated in multiple advanced cancers 1"],"gene_symbol":"PTEN","hgnc_symbol":"PTEN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:89622870-89731687","ensembl_id":"ENSG00000171862"}},"GRch38":{"90":{"location":"10:87863113-87971930","ensembl_id":"ENSG00000171862"}}},"hgnc_date_symbol_changed":"1997-04-21"},"entity_type":"gene","entity_name":"PTEN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32196895"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Cowden syndrome 1, MIM# 158350","Bannayan-Riley-Ruvalcaba syndrome","Lhermitte-Duclos syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":300,"hash_id":null,"name":"Vascular Malformations_Germline","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes that cause Mendelian vascular malformation disorders, particularly those presenting with skin lesions. Genes causing sporadic and congenital vascular malformations through somatic activating mutations are rated Red and labelled 'somatic'. This gene panel is maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nIf a sample of affected tissue is being tested, please use the Vascular Malformations_Somatic panel.","status":"public","version":"1.13","version_created":"2026-01-24T18:03:26.952041+11:00","relevant_disorders":["Abnormal vascular morphology HP:0025015"],"stats":{"number_of_genes":42,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ22215","VWA-1","WARP"],"biotype":"protein_coding","hgnc_id":"HGNC:30910","gene_name":"von Willebrand factor A domain containing 1","omim_gene":["611901"],"alias_name":null,"gene_symbol":"VWA1","hgnc_symbol":"VWA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:1370241-1378262","ensembl_id":"ENSG00000179403"}},"GRch38":{"90":{"location":"1:1434861-1442882","ensembl_id":"ENSG00000179403"}}},"hgnc_date_symbol_changed":"2005-07-18"},"entity_type":"gene","entity_name":"VWA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33459760","33693694","33559681"],"evidence":["Literature","Expert Review Green","Literature"],"phenotypes":["Hereditary motor neuropathy"],"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":["FLJ10709"],"biotype":"protein_coding","hgnc_id":"HGNC:25567","gene_name":"ATPase family, AAA domain containing 3A","omim_gene":["612316"],"alias_name":null,"gene_symbol":"ATAD3A","hgnc_symbol":"ATAD3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:1447531-1470067","ensembl_id":"ENSG00000197785"}},"GRch38":{"90":{"location":"1:1512151-1534687","ensembl_id":"ENSG00000197785"}}},"hgnc_date_symbol_changed":"2007-02-08"},"entity_type":"gene","entity_name":"ATAD3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Global developmental delay, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9076","gene_name":"perilipin 1","omim_gene":["170290"],"alias_name":null,"gene_symbol":"PLIN1","hgnc_symbol":"PLIN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:90207596-90222658","ensembl_id":"ENSG00000166819"}},"GRch38":{"90":{"location":"15:89664365-89679427","ensembl_id":"ENSG00000166819"}}},"hgnc_date_symbol_changed":"2009-08-12"},"entity_type":"gene","entity_name":"PLIN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21345103","25114292","29747582","31504636","11371650"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["PLIN1-related familial partial lipodystrophy, MONDO:0013478"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3093,"hash_id":null,"name":"Monogenic Diabetes","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).","status":"public","version":"0.224","version_created":"2026-04-06T18:03:06.439122+10:00","relevant_disorders":["Diabetes mellitus","HP:0000819"],"stats":{"number_of_genes":109,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC33442","dJ955L16.1"],"biotype":"protein_coding","hgnc_id":"HGNC:21478","gene_name":"regulatory factor X6","omim_gene":["612659"],"alias_name":["DNA-binding protein RFX6"],"gene_symbol":"RFX6","hgnc_symbol":"RFX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:117198375-117253326","ensembl_id":"ENSG00000185002"}},"GRch38":{"90":{"location":"6:116877212-116932163","ensembl_id":"ENSG00000185002"}}},"hgnc_date_symbol_changed":"2008-08-04"},"entity_type":"gene","entity_name":"RFX6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27167055","27185633","26770845","26761945","26264437","26559129","25048417"],"evidence":["Expert Review Green","Expert list","NHS GMS","Expert Review Green"],"phenotypes":["Mitchell-Riley syndrome, 615710","Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities","recessive syndromic diabetes and autosomal dominant MODY"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3093,"hash_id":null,"name":"Monogenic Diabetes","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).","status":"public","version":"0.224","version_created":"2026-04-06T18:03:06.439122+10:00","relevant_disorders":["Diabetes mellitus","HP:0000819"],"stats":{"number_of_genes":109,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HPA2","HPR2"],"biotype":"protein_coding","hgnc_id":"HGNC:18374","gene_name":"heparanase 2 (inactive)","omim_gene":["613469"],"alias_name":null,"gene_symbol":"HPSE2","hgnc_symbol":"HPSE2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:100218875-100995619","ensembl_id":"ENSG00000172987"}},"GRch38":{"90":{"location":"10:98457077-99235862","ensembl_id":"ENSG00000172987"}}},"hgnc_date_symbol_changed":"2002-09-02"},"entity_type":"gene","entity_name":"HPSE2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Urofacial syndrome 1, 236730 (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":["FLJ10842"],"biotype":"protein_coding","hgnc_id":"HGNC:21869","gene_name":"acylglycerol kinase","omim_gene":["610345"],"alias_name":null,"gene_symbol":"AGK","hgnc_symbol":"AGK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:141250989-141355044","ensembl_id":"ENSG00000006530"}},"GRch38":{"90":{"location":"7:141551189-141655244","ensembl_id":"ENSG00000006530"}}},"hgnc_date_symbol_changed":"2007-01-11"},"entity_type":"gene","entity_name":"AGK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Sengers syndrome, 212350 (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":["CHLR1","KRG2","CHL1","ChlR1","WABS"],"biotype":"protein_coding","hgnc_id":"HGNC:2736","gene_name":"DEAD/H-box helicase 11","omim_gene":["601150"],"alias_name":["CHL1-like helicase homolog (S. cerevisiae)"],"gene_symbol":"DDX11","hgnc_symbol":"DDX11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:31226779-31257725","ensembl_id":"ENSG00000013573"}},"GRch38":{"90":{"location":"12:31073845-31104791","ensembl_id":"ENSG00000013573"}}},"hgnc_date_symbol_changed":"1995-12-11"},"entity_type":"gene","entity_name":"DDX11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Warsaw breakage syndrome, 613398 (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":["DKFZP564D116","TECT3","JBTS18"],"biotype":"protein_coding","hgnc_id":"HGNC:24519","gene_name":"tectonic family member 3","omim_gene":["613847"],"alias_name":null,"gene_symbol":"TCTN3","hgnc_symbol":"TCTN3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:97423158-97453900","ensembl_id":"ENSG00000119977"}},"GRch38":{"90":{"location":"10:95663396-95694143","ensembl_id":"ENSG00000119977"}}},"hgnc_date_symbol_changed":"2007-08-20"},"entity_type":"gene","entity_name":"TCTN3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Joubert syndrome 18, 614815 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5967","gene_name":"interleukin 11 receptor subunit alpha","omim_gene":["600939"],"alias_name":null,"gene_symbol":"IL11RA","hgnc_symbol":"IL11RA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:34650699-34661889","ensembl_id":"ENSG00000137070"}},"GRch38":{"90":{"location":"9:34650702-34661892","ensembl_id":"ENSG00000137070"}}},"hgnc_date_symbol_changed":"1995-08-10"},"entity_type":"gene","entity_name":"IL11RA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Craniosynostosis and dental anomalies, 614188 (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":["HSPC014","UMP1"],"biotype":"protein_coding","hgnc_id":"HGNC:20330","gene_name":"proteasome maturation protein","omim_gene":["613386"],"alias_name":["proteassemblin"],"gene_symbol":"POMP","hgnc_symbol":"POMP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:29233241-29253062","ensembl_id":"ENSG00000132963"}},"GRch38":{"90":{"location":"13:28659104-28678925","ensembl_id":"ENSG00000132963"}}},"hgnc_date_symbol_changed":"2006-07-04"},"entity_type":"gene","entity_name":"POMP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (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":["SPANK-2","prosap2","KIAA1650","PSAP2"],"biotype":"protein_coding","hgnc_id":"HGNC:14294","gene_name":"SH3 and multiple ankyrin repeat domains 3","omim_gene":["606230"],"alias_name":["proline rich synapse associated protein 2","shank postsynaptic density protein"],"gene_symbol":"SHANK3","hgnc_symbol":"SHANK3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:51112843-51171726","ensembl_id":"ENSG00000251322"}},"GRch38":{"90":{"location":"22:50674415-50733298","ensembl_id":"ENSG00000251322"}}},"hgnc_date_symbol_changed":"2002-02-22"},"entity_type":"gene","entity_name":"SHANK3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30842224","16284256","17173049","20186804","22892527"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Phelan-McDermid syndrome, MIM# 606232","MONDO:0011652"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV"],"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":["FXR","RIP14","HRR1","HRR-1"],"biotype":"protein_coding","hgnc_id":"HGNC:7967","gene_name":"nuclear receptor subfamily 1 group H member 4","omim_gene":["603826"],"alias_name":["farnesoid X receptor"],"gene_symbol":"NR1H4","hgnc_symbol":"NR1H4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:100867486-100958191","ensembl_id":"ENSG00000012504"}},"GRch38":{"90":{"location":"12:100473708-100564413","ensembl_id":"ENSG00000012504"}}},"hgnc_date_symbol_changed":"1999-09-17"},"entity_type":"gene","entity_name":"NR1H4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26888176","32443034"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cholestasis, progressive familial intrahepatic, 5, MIM#\t617049"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3400,"hash_id":null,"name":"Liver Failure_Paediatric","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause liver failure in children.\r\n\r\nPlease also consider using the Cholestasis panel if clinically indicated.","status":"public","version":"1.33","version_created":"2026-01-08T17:48:33.703909+11:00","relevant_disorders":["Liver failure","HP:0001399"],"stats":{"number_of_genes":68,"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":["DKFZP586B1621","NET45"],"biotype":"protein_coding","hgnc_id":"HGNC:24552","gene_name":"triokinase and FMN cyclase","omim_gene":["615844"],"alias_name":["FAD-AMP lyase (cyclizing)"],"gene_symbol":"TKFC","hgnc_symbol":"TKFC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:61100682-61120767","ensembl_id":"ENSG00000149476"}},"GRch38":{"90":{"location":"11:61333210-61353295","ensembl_id":"ENSG00000149476"}}},"hgnc_date_symbol_changed":"2015-03-20"},"entity_type":"gene","entity_name":"TKFC","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32004446"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Triokinase and FMN cyclase deficiency syndrome, MIM#618805","Developmental delay","cataracts","liver dysfunction"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3400,"hash_id":null,"name":"Liver Failure_Paediatric","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause liver failure in children.\r\n\r\nPlease also consider using the Cholestasis panel if clinically indicated.","status":"public","version":"1.33","version_created":"2026-01-08T17:48:33.703909+11:00","relevant_disorders":["Liver failure","HP:0001399"],"stats":{"number_of_genes":68,"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":["KIAA0018","seladin-1"],"biotype":"protein_coding","hgnc_id":"HGNC:2859","gene_name":"24-dehydrocholesterol reductase","omim_gene":["606418"],"alias_name":null,"gene_symbol":"DHCR24","hgnc_symbol":"DHCR24","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:55315306-55352891","ensembl_id":"ENSG00000116133"}},"GRch38":{"90":{"location":"1:54849633-54887218","ensembl_id":"ENSG00000116133"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"DHCR24","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Desmosterolosis, MONDO:0011217"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4174","gene_name":"GATA binding protein 6","omim_gene":["601656"],"alias_name":null,"gene_symbol":"GATA6","hgnc_symbol":"GATA6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:19749404-19782491","ensembl_id":"ENSG00000141448"}},"GRch38":{"90":{"location":"18:22169443-22202528","ensembl_id":"ENSG00000141448"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"GATA6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31271559, 32207556, 23223019"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Pancreatic agenesis and congenital heart defects, OMIM# 600001"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3471,"hash_id":null,"name":"Congenital hypothyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Thyroid disorders","description":"This panel contains genes associated with congenital hypothyroidism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'congenital hypothyroidism' panel V3.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.120","version_created":"2026-04-02T11:51:29.895216+11:00","relevant_disorders":["Hypothyroidism HP:0000821"],"stats":{"number_of_genes":63,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CARMA2","BIMP2"],"biotype":"protein_coding","hgnc_id":"HGNC:16446","gene_name":"caspase recruitment domain family member 14","omim_gene":["607211"],"alias_name":null,"gene_symbol":"CARD14","hgnc_symbol":"CARD14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:78143791-78183130","ensembl_id":"ENSG00000141527"}},"GRch38":{"90":{"location":"17:80169992-80209331","ensembl_id":"ENSG00000141527"}}},"hgnc_date_symbol_changed":"2002-09-19"},"entity_type":"gene","entity_name":"CARD14","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"Other","publications":["34116062"],"evidence":["Expert Review Amber","Genomics England PanelApp","NHS GMS"],"phenotypes":["Inflammatory linear verrucous epidermal naevus"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3472,"hash_id":null,"name":"Mosaic skin disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"1.15","version_created":"2025-11-28T10:17:48.863556+11:00","relevant_disorders":["Abnormality of skin pigmentation","HP:0001000"],"stats":{"number_of_genes":44,"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":"Tasmanian Clinical Genetics Service","slug":"tasmanian-clinical-genetics-service","description":"Tasmanian Clinical Genetics Service"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FAD","FA-D2"],"biotype":"protein_coding","hgnc_id":"HGNC:3585","gene_name":"Fanconi anemia complementation group D2","omim_gene":["613984"],"alias_name":null,"gene_symbol":"FANCD2","hgnc_symbol":"FANCD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:10068098-10143614","ensembl_id":"ENSG00000144554"}},"GRch38":{"90":{"location":"3:10026414-10101930","ensembl_id":"ENSG00000144554"}}},"hgnc_date_symbol_changed":"2001-10-05"},"entity_type":"gene","entity_name":"FANCD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11239454"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anaemia, complementation group D2, MIM# 227646"],"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":["LCA2","rd12","BCO3"],"biotype":"protein_coding","hgnc_id":"HGNC:10294","gene_name":"RPE65, retinoid isomerohydrolase","omim_gene":["180069"],"alias_name":["BCO family, member 3","retinol isomerase","all-trans-retinyl-palmitate hydrolase"],"gene_symbol":"RPE65","hgnc_symbol":"RPE65","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:68894505-68915642","ensembl_id":"ENSG00000116745"}},"GRch38":{"90":{"location":"1:68428822-68449959","ensembl_id":"ENSG00000116745"}}},"hgnc_date_symbol_changed":"1993-10-04"},"entity_type":"gene","entity_name":"RPE65","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12960219","14962443"],"evidence":["Expert Review Green","Expert list","Royal Melbourne Hospital"],"phenotypes":["Leber congenital amaurosis 2, 204100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3762,"hash_id":null,"name":"Congenital nystagmus","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with isolated or syndromic nystagmus presenting in infancy or early childhood.","status":"public","version":"1.24","version_created":"2026-01-26T13:26:36.043723+11:00","relevant_disorders":["Nystagmus HP:0000639"],"stats":{"number_of_genes":84,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8806","gene_name":"pyruvate dehydrogenase E1 alpha 1 subunit","omim_gene":["300502"],"alias_name":["pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial"],"gene_symbol":"PDHA1","hgnc_symbol":"PDHA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:19362011-19379823","ensembl_id":"ENSG00000131828"}},"GRch38":{"90":{"location":"X:19343893-19361705","ensembl_id":"ENSG00000131828"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"PDHA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26865159","33461977"],"evidence":["Expert Review Green","Genomics England PanelApp","Literature"],"phenotypes":["Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170"],"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":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":["FOG2","hFOG-2","ZNF89B","ZC2HC11B"],"biotype":"protein_coding","hgnc_id":"HGNC:16700","gene_name":"zinc finger protein, FOG family member 2","omim_gene":["603693"],"alias_name":null,"gene_symbol":"ZFPM2","hgnc_symbol":"ZFPM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:106330920-106816760","ensembl_id":"ENSG00000169946"}},"GRch38":{"90":{"location":"8:104590733-105804532","ensembl_id":"ENSG00000169946"}}},"hgnc_date_symbol_changed":"2002-11-26"},"entity_type":"gene","entity_name":"ZFPM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["16103912","17568391","24702427","10892744","21919901","14517948"],"evidence":["Expert Review Green","Literature","Expert list"],"phenotypes":["Diaphragmatic hernia 3 - MIM#610187","Tetralogy of Fallot\t- MIM# 187500"],"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":["RPL10","RPLY10","RPYL10","EC45","L15"],"biotype":"protein_coding","hgnc_id":"HGNC:10306","gene_name":"ribosomal protein L15","omim_gene":["604174"],"alias_name":null,"gene_symbol":"RPL15","hgnc_symbol":"RPL15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:23958036-23965183","ensembl_id":"ENSG00000174748"}},"GRch38":{"90":{"location":"3:23916545-23923692","ensembl_id":"ENSG00000174748"}}},"hgnc_date_symbol_changed":"1998-07-23"},"entity_type":"gene","entity_name":"RPL15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Expert list"],"phenotypes":["Diamond-Blackfan anemia 12, MIM# 615550"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3829,"hash_id":null,"name":"IBMDx study","disease_group":"","disease_sub_group":"","description":"The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2,  BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.","status":"public","version":"0.42","version_created":"2026-03-19T18:45:41.236506+11:00","relevant_disorders":[],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Research","slug":"research","description":"Research panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CRTR","CT1"],"biotype":"protein_coding","hgnc_id":"HGNC:11055","gene_name":"solute carrier family 6 member 8","omim_gene":["300036"],"alias_name":["creatine transporter"],"gene_symbol":"SLC6A8","hgnc_symbol":"SLC6A8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:152953554-152962048","ensembl_id":"ENSG00000130821"}},"GRch38":{"90":{"location":"X:153688099-153696593","ensembl_id":"ENSG00000130821"}}},"hgnc_date_symbol_changed":"1994-12-19"},"entity_type":"gene","entity_name":"SLC6A8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11326334","11898126","15154114","17101918","16086185"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Cerebral creatine deficiency syndrome 1, MIM#300352"],"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":["NOV","QM","DXS648E","DXS648","FLJ23544","L10"],"biotype":"protein_coding","hgnc_id":"HGNC:10298","gene_name":"ribosomal protein L10","omim_gene":["312173"],"alias_name":null,"gene_symbol":"RPL10","hgnc_symbol":"RPL10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153618315-153637504","ensembl_id":"ENSG00000147403"}},"GRch38":{"90":{"location":"X:154389955-154409168","ensembl_id":"ENSG00000147403"}}},"hgnc_date_symbol_changed":"1998-07-23"},"entity_type":"gene","entity_name":"RPL10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25316788","26290468","25846674","29066376"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Intellectual developmental disorder, X-linked, syndromic, 35, MIM300998"],"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":["HSPC196","JBTS16"],"biotype":"protein_coding","hgnc_id":"HGNC:26944","gene_name":"transmembrane protein 138","omim_gene":["614459"],"alias_name":null,"gene_symbol":"TMEM138","hgnc_symbol":"TMEM138","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:61129473-61136981","ensembl_id":"ENSG00000149483"}},"GRch38":{"90":{"location":"11:61362001-61369509","ensembl_id":"ENSG00000149483"}}},"hgnc_date_symbol_changed":"2006-03-15"},"entity_type":"gene","entity_name":"TMEM138","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22282472","34354814","20301500"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Joubert syndrome 16, MIM#614465"],"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":["AIM-1","OCA4"],"biotype":"protein_coding","hgnc_id":"HGNC:16472","gene_name":"solute carrier family 45 member 2","omim_gene":["606202"],"alias_name":null,"gene_symbol":"SLC45A2","hgnc_symbol":"SLC45A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:33944721-33984835","ensembl_id":"ENSG00000164175"}},"GRch38":{"90":{"location":"5:33944616-33984730","ensembl_id":"ENSG00000164175"}}},"hgnc_date_symbol_changed":"2005-10-06"},"entity_type":"gene","entity_name":"SLC45A2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Albinism, oculocutaneous, type IV, MIM# 606574"],"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":["CLP","MLP","CMD1M"],"biotype":"protein_coding","hgnc_id":"HGNC:2472","gene_name":"cysteine and glycine rich protein 3","omim_gene":["600824"],"alias_name":["cardiac LIM protein"],"gene_symbol":"CSRP3","hgnc_symbol":"CSRP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:19203578-19232120","ensembl_id":"ENSG00000129170"}},"GRch38":{"90":{"location":"11:19182030-19210573","ensembl_id":"ENSG00000129170"}}},"hgnc_date_symbol_changed":"1999-07-21"},"entity_type":"gene","entity_name":"CSRP3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","BabySeq Category B gene","Expert Review Red"],"phenotypes":["Cardiomyopathy, dilated, 1M","Cardiomyopathy, familial hypertrophic, 12"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CMS"],"biotype":"protein_coding","hgnc_id":"HGNC:14258","gene_name":"CD2 associated protein","omim_gene":["604241"],"alias_name":null,"gene_symbol":"CD2AP","hgnc_symbol":"CD2AP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:47445525-47594999","ensembl_id":"ENSG00000198087"}},"GRch38":{"90":{"location":"6:47477789-47627263","ensembl_id":"ENSG00000198087"}}},"hgnc_date_symbol_changed":"2000-12-14"},"entity_type":"gene","entity_name":"CD2AP","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Glomerulosclerosis, focal segmental, 3"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:10887","gene_name":"SIX homeobox 1","omim_gene":["601205"],"alias_name":null,"gene_symbol":"SIX1","hgnc_symbol":"SIX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:61110133-61124977","ensembl_id":"ENSG00000126778"}},"GRch38":{"90":{"location":"14:60643415-60658259","ensembl_id":"ENSG00000126778"}}},"hgnc_date_symbol_changed":"1995-09-29"},"entity_type":"gene","entity_name":"SIX1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Branchiootic syndrome 3, MIM# 608389"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8653","gene_name":"propionyl-CoA carboxylase alpha subunit","omim_gene":["232000"],"alias_name":null,"gene_symbol":"PCCA","hgnc_symbol":"PCCA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:100741269-101182686","ensembl_id":"ENSG00000175198"}},"GRch38":{"90":{"location":"13:100089015-100530437","ensembl_id":"ENSG00000175198"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PCCA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Propionic acidaemia, MIM#606054"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11037","gene_name":"solute carrier family 5 member 2","omim_gene":["182381"],"alias_name":null,"gene_symbol":"SLC5A2","hgnc_symbol":"SLC5A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:31494323-31502181","ensembl_id":"ENSG00000140675"}},"GRch38":{"90":{"location":"16:31483002-31490860","ensembl_id":"ENSG00000140675"}}},"hgnc_date_symbol_changed":"1993-08-24"},"entity_type":"gene","entity_name":"SLC5A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21165652","12436245","26376857"],"evidence":["Expert Review Green","Expert list","Expert Review Green","Expert list"],"phenotypes":["Renal glucosuria, MIM#\t233100"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PDIA1","PROHB","DSI","GIT","PDI","PO4HB","P4Hbeta"],"biotype":"protein_coding","hgnc_id":"HGNC:8548","gene_name":"prolyl 4-hydroxylase subunit beta","omim_gene":["176790"],"alias_name":["protein disulfide isomerase-associated 1","protein disulfide isomerase family A, member 1","collagen prolyl 4-hydroxylase beta"],"gene_symbol":"P4HB","hgnc_symbol":"P4HB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:79801035-79818570","ensembl_id":"ENSG00000185624"}},"GRch38":{"90":{"location":"17:81843159-81860694","ensembl_id":"ENSG00000185624"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"P4HB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25683117","30063094","29384951","29263160"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cole-Carpenter syndrome 1, MIM#112240"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["gp330","DBS"],"biotype":"protein_coding","hgnc_id":"HGNC:6694","gene_name":"LDL receptor related protein 2","omim_gene":["600073"],"alias_name":["megalin"],"gene_symbol":"LRP2","hgnc_symbol":"LRP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:169983619-170219195","ensembl_id":"ENSG00000081479"}},"GRch38":{"90":{"location":"2:169127109-169362685","ensembl_id":"ENSG00000081479"}}},"hgnc_date_symbol_changed":"1994-05-04"},"entity_type":"gene","entity_name":"LRP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17632512","20301732"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Donnai-Barrow syndrome, MIM #222448"],"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":["FBX7","Fbx","PARK15"],"biotype":"protein_coding","hgnc_id":"HGNC:13586","gene_name":"F-box protein 7","omim_gene":["605648"],"alias_name":null,"gene_symbol":"FBXO7","hgnc_symbol":"FBXO7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:32870663-32894818","ensembl_id":"ENSG00000100225"}},"GRch38":{"90":{"location":"22:32474676-32498829","ensembl_id":"ENSG00000100225"}}},"hgnc_date_symbol_changed":"2000-09-27"},"entity_type":"gene","entity_name":"FBXO7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34396589","20301402","18513678","34781237","19038853"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Parkinson disease 15, autosomal recessive, MIM#260300"],"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:17870","gene_name":"inversin","omim_gene":["243305"],"alias_name":["nephrocystin 2"],"gene_symbol":"INVS","hgnc_symbol":"INVS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:102861538-103063282","ensembl_id":"ENSG00000119509"}},"GRch38":{"90":{"location":"9:100099256-100301000","ensembl_id":"ENSG00000119509"}}},"hgnc_date_symbol_changed":"2002-06-11"},"entity_type":"gene","entity_name":"INVS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Nephronophthisis 2, infantile, (MIM#602088)"],"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:9498","gene_name":"prosaposin","omim_gene":["176801"],"alias_name":["variant Gaucher disease and variant metachromatic leukodystrophy"],"gene_symbol":"PSAP","hgnc_symbol":"PSAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:73576055-73611126","ensembl_id":"ENSG00000197746"}},"GRch38":{"90":{"location":"10:71816298-71851375","ensembl_id":"ENSG00000197746"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PSAP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10682309","30632081","11309366","19267410","8554069"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Metachromatic leukodystrophy due to SAP-b deficiency, MIM #249900","Combined SAP deficiency, MIM #611721","Gaucher disease, atypical, MIM #610539","Krabbe disease, atypical, MIM #611722"],"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":["CD152","CD","GSE"],"biotype":"protein_coding","hgnc_id":"HGNC:2505","gene_name":"cytotoxic T-lymphocyte associated protein 4","omim_gene":["123890"],"alias_name":null,"gene_symbol":"CTLA4","hgnc_symbol":"CTLA4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:204732509-204738683","ensembl_id":"ENSG00000163599"}},"GRch38":{"90":{"location":"2:203867786-203873960","ensembl_id":"ENSG00000163599"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"CTLA4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39060684","38302222"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation MIM#616100","autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:0014493"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4389,"hash_id":null,"name":"Autoimmune Lymphoproliferative Syndrome","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel has been compiled based on the following study:\r\n\r\nGenetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital Medical Center (PMID: 39060684)","status":"public","version":"1.12","version_created":"2026-02-26T20:52:40.847942+11:00","relevant_disorders":[],"stats":{"number_of_genes":20,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CARK"],"biotype":"protein_coding","hgnc_id":"HGNC:19661","gene_name":"TNNI3 interacting kinase","omim_gene":["613932"],"alias_name":null,"gene_symbol":"TNNI3K","hgnc_symbol":"TNNI3K","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:74663947-75010112","ensembl_id":"ENSG00000116783"}},"GRch38":{"90":{"location":"1:74235401-74544428","ensembl_id":"ENSG00000116783"}}},"hgnc_date_symbol_changed":"2004-01-19"},"entity_type":"gene","entity_name":"TNNI3K","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25791106","24925317","30010057","29355681"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["atrial conduction disease MONDO:0014500"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4422,"hash_id":null,"name":"Cardiac conduction disease","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes associated with cardiac conduction disease, including heart block and abnormal atrioventricular conduction. It contains all the genes associated with Sick sinus syndrome.\r\n\r\nThis panel is based on the PanelApp UK \"Progressive cardiac conduction disease\" panel, with thanks to Genomics England. It is a constituent of the Arrhythmia Superpanel and Adult Cardiac Superpanel.","status":"public","version":"1.6","version_created":"2026-02-19T13:33:52.737749+11:00","relevant_disorders":["Cardiac conduction abnormality","HP:0031546"],"stats":{"number_of_genes":20,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CDC54","hCdc21","P1-Cdc21","MGC33310"],"biotype":"protein_coding","hgnc_id":"HGNC:6947","gene_name":"minichromosome maintenance complex component 4","omim_gene":["602638"],"alias_name":null,"gene_symbol":"MCM4","hgnc_symbol":"MCM4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:48872745-48890720","ensembl_id":"ENSG00000104738"}},"GRch38":{"90":{"location":"8:47960185-47978160","ensembl_id":"ENSG00000104738"}}},"hgnc_date_symbol_changed":"1994-12-13"},"entity_type":"gene","entity_name":"MCM4","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["22354167","22354170","22499342"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency 54 MIM# 609981","Decreased NK cell number and function","Viral infections (EBV, HSV, VZV)","Short stature","B cell lymphoma","Adrenal failure","Failure to thrive","Microcephaly","Increased chromosomal breakage","Hyperpigmentation","Lymphadenopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":4523,"hash_id":null,"name":"Adrenal insufficiency","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","description":"This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.","status":"public","version":"0.76","version_created":"2026-03-19T16:21:18.336273+11:00","relevant_disorders":[],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["E46L","FLJ37990"],"biotype":"protein_coding","hgnc_id":"HGNC:10549","gene_name":"ataxin 10","omim_gene":["611150"],"alias_name":null,"gene_symbol":"ATXN10","hgnc_symbol":"ATXN10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:46067678-46241187","ensembl_id":"ENSG00000130638"}},"GRch38":{"90":{"location":"22:45671798-45845307","ensembl_id":"ENSG00000130638"}}},"hgnc_date_symbol_changed":"2004-08-12"},"entity_type":"str","entity_name":"ATXN10_SCA10_ATTCT","confidence_level":"3","penetrance":null,"publications":["20301354","11017075"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Spinocerebellar ataxia 10 MIM#603516"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"ATTCT","chromosome":"22","grch37_coordinates":[46191235,46191304],"grch38_coordinates":[45795355,45795424],"normal_repeats":32,"pathogenic_repeats":800,"tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}}]}