{"count":36038,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=273","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=271","results":[{"gene_data":{"alias":["CATSF","CLN13"],"biotype":"protein_coding","hgnc_id":"HGNC:2531","gene_name":"cathepsin F","omim_gene":["603539"],"alias_name":null,"gene_symbol":"CTSF","hgnc_symbol":"CTSF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:66330934-66336312","ensembl_id":"ENSG00000174080"}},"GRch38":{"90":{"location":"11:66563463-66568841","ensembl_id":"ENSG00000174080"}}},"hgnc_date_symbol_changed":"1998-12-17"},"entity_type":"gene","entity_name":"CTSF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 28749476","27668283","27524508"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 13, Kufs type\t615362"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":24,"hash_id":null,"name":"Early-onset Dementia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause frontotemporal dementia (FTD), Alzheimer's disease, other forms of dementia, and adult-onset cognitive decline. It is currently maintained by VCGS and RMH. The base panel (17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"1.58","version_created":"2026-03-31T16:43:37.497568+11:00","relevant_disorders":["Cognitive impairment","HP:0100543"],"stats":{"number_of_genes":96,"number_of_strs":6,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["VAP-B","VAP-C","ALS8"],"biotype":"protein_coding","hgnc_id":"HGNC:12649","gene_name":"VAMP associated protein B and C","omim_gene":["605704"],"alias_name":null,"gene_symbol":"VAPB","hgnc_symbol":"VAPB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:56964178-57026157","ensembl_id":"ENSG00000124164"}},"GRch38":{"90":{"location":"20:58389122-58451101","ensembl_id":"ENSG00000124164"}}},"hgnc_date_symbol_changed":"1999-03-19"},"entity_type":"gene","entity_name":"VAPB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Amyotrophic lateral sclerosis 8 MIM#608627","Spinal muscular atrophy, late-onset, Finkel type MIM#182980"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":24,"hash_id":null,"name":"Early-onset Dementia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause frontotemporal dementia (FTD), Alzheimer's disease, other forms of dementia, and adult-onset cognitive decline. It is currently maintained by VCGS and RMH. The base panel (17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"1.58","version_created":"2026-03-31T16:43:37.497568+11:00","relevant_disorders":["Cognitive impairment","HP:0100543"],"stats":{"number_of_genes":96,"number_of_strs":6,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HFK2","QIN","BF1","HFK1","HFK3","HBF-3"],"biotype":"protein_coding","hgnc_id":"HGNC:3811","gene_name":"forkhead box G1","omim_gene":["164874"],"alias_name":null,"gene_symbol":"FOXG1","hgnc_symbol":"FOXG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:29235050-29238870","ensembl_id":"ENSG00000176165"}},"GRch38":{"90":{"location":"14:28760330-28770277","ensembl_id":"ENSG00000176165"}}},"hgnc_date_symbol_changed":"2007-05-16"},"entity_type":"gene","entity_name":"FOXG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21441262","19564653","19578037"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Rett syndrome, congenital variant, MIM# 613454"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":41,"hash_id":null,"name":"Angelman Rett like syndromes","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"1.14","version_created":"2025-11-28T14:40:40.364746+11:00","relevant_disorders":[],"stats":{"number_of_genes":38,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hCHT","CHT1"],"biotype":"protein_coding","hgnc_id":"HGNC:14025","gene_name":"solute carrier family 5 member 7","omim_gene":["608761"],"alias_name":null,"gene_symbol":"SLC5A7","hgnc_symbol":"SLC5A7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:108602979-108630450","ensembl_id":"ENSG00000115665"}},"GRch38":{"90":{"location":"2:107986523-108013994","ensembl_id":"ENSG00000115665"}}},"hgnc_date_symbol_changed":"2000-11-27"},"entity_type":"gene","entity_name":"SLC5A7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27569547","29189923","30172469"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PI31"],"biotype":"protein_coding","hgnc_id":"HGNC:9571","gene_name":"proteasome inhibitor subunit 1","omim_gene":null,"alias_name":["proteasome inhibitor hP131 subunit"],"gene_symbol":"PSMF1","hgnc_symbol":"PSMF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:1093906-1160596","ensembl_id":"ENSG00000125818"}},"GRch38":{"90":{"location":"20:1113263-1189415","ensembl_id":"ENSG00000125818"}}},"hgnc_date_symbol_changed":"1999-04-15"},"entity_type":"gene","entity_name":"PSMF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ33496","KIAA1843","UNC-80"],"biotype":"protein_coding","hgnc_id":"HGNC:26582","gene_name":"unc-80 homolog, NALCN channel complex subunit","omim_gene":["612636"],"alias_name":null,"gene_symbol":"UNC80","hgnc_symbol":"UNC80","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:210636717-210864024","ensembl_id":"ENSG00000144406"}},"GRch38":{"90":{"location":"2:209771993-209999300","ensembl_id":"ENSG00000144406"}}},"hgnc_date_symbol_changed":"2009-08-17"},"entity_type":"gene","entity_name":"UNC80","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["26545877","26708753","26708751"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DRN3"],"biotype":"protein_coding","hgnc_id":"HGNC:12269","gene_name":"three prime repair exonuclease 1","omim_gene":["606609"],"alias_name":null,"gene_symbol":"TREX1","hgnc_symbol":"TREX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:48506445-48509044","ensembl_id":"ENSG00000213689"}},"GRch38":{"90":{"location":"3:48465811-48467645","ensembl_id":"ENSG00000213689"}}},"hgnc_date_symbol_changed":"2000-05-17"},"entity_type":"gene","entity_name":"TREX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17846997"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":58,"hash_id":null,"name":"Brain Calcification","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Primary brain calcification disorders are characterised by abnormal deposits of calcium in blood vessels within the brain, particularly the basal ganglia. They typically present with movement disorders and psychiatric or behavioural problems. This panel also contains other multi-system conditions where brain calcification can occur as part of the phenotype.\r\n\r\nThis panel was developed and is maintained by VCGS.\r\n\r\nThe panel has been compared against the Genomics England PanelApp Intracerebral Calcifications panel V1.27 with all discrepancies resolved and reciprocal feedback provided to Genomics England.\r\n\r\nUpdated December 2025 following literature review.","status":"public","version":"2.6","version_created":"2026-01-08T18:01:53.861975+11:00","relevant_disorders":["Cerebral calcification","HP:0002514"],"stats":{"number_of_genes":96,"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":["KIAA0990","CSS1"],"biotype":"protein_coding","hgnc_id":"HGNC:17198","gene_name":"chondroitin sulfate synthase 1","omim_gene":["608183"],"alias_name":null,"gene_symbol":"CHSY1","hgnc_symbol":"CHSY1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:101715928-101792137","ensembl_id":"ENSG00000131873"}},"GRch38":{"90":{"location":"15:101175723-101251932","ensembl_id":"ENSG00000131873"}}},"hgnc_date_symbol_changed":"2008-01-24"},"entity_type":"gene","entity_name":"CHSY1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21129728","21129727","24269551"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533","CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)"],"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":["KIAA1005","CORS3","JBTS7","MKS5","NPHP8","FTM","PPP1R134"],"biotype":"protein_coding","hgnc_id":"HGNC:29168","gene_name":"RPGRIP1 like","omim_gene":["610937"],"alias_name":["fantom homolog","Meckel syndrome, type 5","protein phosphatase 1, regulatory subunit 134"],"gene_symbol":"RPGRIP1L","hgnc_symbol":"RPGRIP1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:53631595-53737850","ensembl_id":"ENSG00000103494"}},"GRch38":{"90":{"location":"16:53597683-53703938","ensembl_id":"ENSG00000103494"}}},"hgnc_date_symbol_changed":"2007-05-14"},"entity_type":"gene","entity_name":"RPGRIP1L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17558409","17558407","17960139","26071364","19574260","29991045"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 7, MIM# 611560","Meckel syndrome 5, MIM# 611561","COACH syndrome 3, MIM# 619113","Nephronophthisis"],"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":["FLJ11830","RNF70"],"biotype":"protein_coding","hgnc_id":"HGNC:16648","gene_name":"praja ring finger ubiquitin ligase 1","omim_gene":["300420"],"alias_name":null,"gene_symbol":"PJA1","hgnc_symbol":"PJA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:68380694-68385636","ensembl_id":"ENSG00000181191"}},"GRch38":{"90":{"location":"X:69160851-69165793","ensembl_id":"ENSG00000181191"}}},"hgnc_date_symbol_changed":"2001-12-07"},"entity_type":"gene","entity_name":"PJA1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32530565"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["X-linked complex neurodevelopmental disorder, PJA1-related, MONDO:0100148"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["founder"],"panel":{"id":93,"hash_id":null,"name":"Craniosynostosis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH. It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.","status":"public","version":"1.85","version_created":"2026-04-07T13:46:55.940488+10:00","relevant_disorders":["Craniosynostosis HP:0001363"],"stats":{"number_of_genes":105,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["BRAF1"],"biotype":"protein_coding","hgnc_id":"HGNC:1097","gene_name":"B-Raf proto-oncogene, serine/threonine kinase","omim_gene":["164757"],"alias_name":null,"gene_symbol":"BRAF","hgnc_symbol":"BRAF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:140419127-140624564","ensembl_id":"ENSG00000157764"}},"GRch38":{"90":{"location":"7:140719327-140924764","ensembl_id":"ENSG00000157764"}}},"hgnc_date_symbol_changed":"1991-07-16"},"entity_type":"gene","entity_name":"BRAF","confidence_level":"3","penetrance":"Complete","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":["28650561"],"evidence":["Expert Review Green","Literature"],"phenotypes":["CFC"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":93,"hash_id":null,"name":"Craniosynostosis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH. It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.","status":"public","version":"1.85","version_created":"2026-04-07T13:46:55.940488+10:00","relevant_disorders":["Craniosynostosis HP:0001363"],"stats":{"number_of_genes":105,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TIE2","TIE-2","VMCM1","CD202b"],"biotype":"protein_coding","hgnc_id":"HGNC:11724","gene_name":"TEK receptor tyrosine kinase","omim_gene":["600221"],"alias_name":null,"gene_symbol":"TEK","hgnc_symbol":"TEK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:27109139-27230173","ensembl_id":"ENSG00000120156"}},"GRch38":{"90":{"location":"9:27109141-27230175","ensembl_id":"ENSG00000120156"}}},"hgnc_date_symbol_changed":"1994-05-24"},"entity_type":"gene","entity_name":"TEK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27270174"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Glaucoma 3, primary congenital, E, MIM# 617272"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":105,"hash_id":null,"name":"Glaucoma congenital","disease_group":"Ophthalmological 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 'Glaucoma (developmental)' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England, 7/8/2020.","status":"public","version":"1.12","version_created":"2026-04-07T13:50:17.268940+10:00","relevant_disorders":["Glaucoma","HP:0000501"],"stats":{"number_of_genes":28,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNF55","c-Cbl"],"biotype":"protein_coding","hgnc_id":"HGNC:1541","gene_name":"Cbl proto-oncogene","omim_gene":["165360"],"alias_name":["oncogene CBL2"],"gene_symbol":"CBL","hgnc_symbol":"CBL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:119076752-119178859","ensembl_id":"ENSG00000110395"}},"GRch38":{"90":{"location":"11:119206276-119313926","ensembl_id":"ENSG00000110395"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"CBL","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":["25358541","20619386","20543203","20694012"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9832","gene_name":"recombination activating 2","omim_gene":["179616"],"alias_name":null,"gene_symbol":"RAG2","hgnc_symbol":"RAG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:36597124-36619829","ensembl_id":"ENSG00000175097"}},"GRch38":{"90":{"location":"11:36575574-36598279","ensembl_id":"ENSG00000175097"}}},"hgnc_date_symbol_changed":"1990-08-15"},"entity_type":"gene","entity_name":"RAG2","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":123,"hash_id":null,"name":"Inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.126","version_created":"2025-10-16T15:50:33.114198+11:00","relevant_disorders":["Gastrointestinal inflammation","HP:0004386"],"stats":{"number_of_genes":85,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SEMP1","ILVASC"],"biotype":"protein_coding","hgnc_id":"HGNC:2032","gene_name":"claudin 1","omim_gene":["603718"],"alias_name":["senescence-associated epithelial membrane protein 1"],"gene_symbol":"CLDN1","hgnc_symbol":"CLDN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:190023490-190040264","ensembl_id":"ENSG00000163347"}},"GRch38":{"90":{"location":"3:190305701-190322475","ensembl_id":"ENSG00000163347"}}},"hgnc_date_symbol_changed":"1998-11-19"},"entity_type":"gene","entity_name":"CLDN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["12164927","11889141","29146216"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626"],"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":["KIAA0356"],"biotype":"protein_coding","hgnc_id":"HGNC:29017","gene_name":"pleckstrin homology and RUN domain containing M1","omim_gene":["611466"],"alias_name":null,"gene_symbol":"PLEKHM1","hgnc_symbol":"PLEKHM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:43513266-43568115","ensembl_id":"ENSG00000225190"}},"GRch38":{"90":{"location":"17:45435900-45490749","ensembl_id":"ENSG00000225190"}}},"hgnc_date_symbol_changed":"2004-02-27"},"entity_type":"gene","entity_name":"PLEKHM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6649","gene_name":"leiomodin 3","omim_gene":["616112"],"alias_name":null,"gene_symbol":"LMOD3","hgnc_symbol":"LMOD3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:69156023-69172183","ensembl_id":"ENSG00000163380"}},"GRch38":{"90":{"location":"3:69106872-69123032","ensembl_id":"ENSG00000163380"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"LMOD3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29331079","25250574","30291184","28815944","30642739"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Nemaline myopathy 10, MIM# 616165"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC19709","MGC2022","MGC5140","PP3381","WBMT","MERM1"],"biotype":"protein_coding","hgnc_id":"HGNC:16405","gene_name":"BUD23, rRNA methyltransferase and ribosome maturation factor","omim_gene":["615733"],"alias_name":["metastasis-related methyltransferase 1"],"gene_symbol":"BUD23","hgnc_symbol":"BUD23","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:73097355-73119491","ensembl_id":"ENSG00000071462"}},"GRch38":{"90":{"location":"7:73683025-73705161","ensembl_id":"ENSG00000071462"}}},"hgnc_date_symbol_changed":"2017-02-22"},"entity_type":"gene","entity_name":"BUD23","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":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HBVES","POP1","POPDC1"],"biotype":"protein_coding","hgnc_id":"HGNC:1152","gene_name":"blood vessel epicardial substance","omim_gene":["604577"],"alias_name":["popeye domain containing 1"],"gene_symbol":"BVES","hgnc_symbol":"BVES","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:105544697-105585049","ensembl_id":"ENSG00000112276"}},"GRch38":{"90":{"location":"6:105096822-105137174","ensembl_id":"ENSG00000112276"}}},"hgnc_date_symbol_changed":"2000-01-10"},"entity_type":"gene","entity_name":"BVES","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26642364","32528171","31119192"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Muscular dystrophy, limb-girdle, autosomal recessive 25, MIM# 616812"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ43269"],"biotype":"protein_coding","hgnc_id":"HGNC:26970","gene_name":"COX20, cytochrome c oxidase assembly factor","omim_gene":["614698"],"alias_name":null,"gene_symbol":"COX20","hgnc_symbol":"COX20","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:244998624-245008359","ensembl_id":"ENSG00000203667"}},"GRch38":{"90":{"location":"1:244835322-244845057","ensembl_id":"ENSG00000203667"}}},"hgnc_date_symbol_changed":"2012-02-24"},"entity_type":"gene","entity_name":"COX20","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24202787","31079202","30656193","23125284","32606554"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CAP-R","CT114"],"biotype":"protein_coding","hgnc_id":"HGNC:2510","gene_name":"catenin alpha 2","omim_gene":["114025"],"alias_name":["cadherin-associated protein, related","cancer/testis antigen 114","alpha-N-catenin"],"gene_symbol":"CTNNA2","hgnc_symbol":"CTNNA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:79412357-80875905","ensembl_id":"ENSG00000066032"}},"GRch38":{"90":{"location":"2:79185231-80648861","ensembl_id":"ENSG00000066032"}}},"hgnc_date_symbol_changed":"1993-07-13"},"entity_type":"gene","entity_name":"CTNNA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30013181"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":["Cortical dysplasia, complex, with other brain malformations 9, MIM#618174"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ25461","C9orf145","C9orf143","DKFZp686M16108","TILRR"],"biotype":"protein_coding","hgnc_id":"HGNC:23399","gene_name":"FRAS1 related extracellular matrix 1","omim_gene":["608944"],"alias_name":null,"gene_symbol":"FREM1","hgnc_symbol":"FREM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:14734664-14910993","ensembl_id":"ENSG00000164946"}},"GRch38":{"90":{"location":"9:14734666-14910995","ensembl_id":"ENSG00000164946"}}},"hgnc_date_symbol_changed":"2004-12-15"},"entity_type":"gene","entity_name":"FREM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32016392","21931569","21507892","19732862","20301721","28111185"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Manitoba oculotrichoanal syndrome 248450","Bifid nose with or without anorectal and renal anomalies, MIM# 608980","Trigonocephaly 2, MIM# 614485"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6344","gene_name":"klotho","omim_gene":["604824"],"alias_name":null,"gene_symbol":"KL","hgnc_symbol":"KL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:33590207-33640282","ensembl_id":"ENSG00000133116"}},"GRch38":{"90":{"location":"13:33016433-33066145","ensembl_id":"ENSG00000133116"}}},"hgnc_date_symbol_changed":"1999-03-24"},"entity_type":"gene","entity_name":"KL","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["17710231","31013726","9363890"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994","Hyperphosphatemia"],"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":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6664","gene_name":"lysyl oxidase","omim_gene":["153455"],"alias_name":null,"gene_symbol":"LOX","hgnc_symbol":"LOX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:121398890-121413980","ensembl_id":"ENSG00000113083"}},"GRch38":{"90":{"location":"5:122063195-122078360","ensembl_id":"ENSG00000113083"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"LOX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30071989","26838787","30675029"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Aortic aneurysm, familial thoracic 10, MIM# 617168"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["desnutrin","TTS-2.2","ATGL","FP17548","iPLA2zeta"],"biotype":"protein_coding","hgnc_id":"HGNC:30802","gene_name":"patatin like phospholipase domain containing 2","omim_gene":["609059"],"alias_name":null,"gene_symbol":"PNPLA2","hgnc_symbol":"PNPLA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:818902-825573","ensembl_id":"ENSG00000177666"}},"GRch38":{"90":{"location":"11:818902-825573","ensembl_id":"ENSG00000177666"}}},"hgnc_date_symbol_changed":"2004-09-06"},"entity_type":"gene","entity_name":"PNPLA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18952067","25287355","25956450","21544567"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neutral lipid storage disease with myopathy MIM#610717"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp761G058","PP2Ckappa","hPTMP","PP2Cm","BDP"],"biotype":"protein_coding","hgnc_id":"HGNC:25415","gene_name":"protein phosphatase, Mg2+/Mn2+ dependent 1K","omim_gene":["611065"],"alias_name":["PP2C-type mitochondrial phosphoprotein phosphatase","protein phosphatase 2C kappa","branched-chain α-ketoacid dehydrogenase phosphatase"],"gene_symbol":"PPM1K","hgnc_symbol":"PPM1K","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:89178772-89205921","ensembl_id":"ENSG00000163644"}},"GRch38":{"90":{"location":"4:88257620-88284769","ensembl_id":"ENSG00000163644"}}},"hgnc_date_symbol_changed":"2005-01-11"},"entity_type":"gene","entity_name":"PPM1K","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["23086801","36706222"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Maple syrup urine disease, mild variant, MIM#615135"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["H-YPT3"],"biotype":"protein_coding","hgnc_id":"HGNC:9761","gene_name":"RAB11B, member RAS oncogene family","omim_gene":["604198"],"alias_name":null,"gene_symbol":"RAB11B","hgnc_symbol":"RAB11B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:8454865-8469318","ensembl_id":"ENSG00000185236"}},"GRch38":{"90":{"location":"19:8389981-8404434","ensembl_id":"ENSG00000185236"}}},"hgnc_date_symbol_changed":"1999-02-23"},"entity_type":"gene","entity_name":"RAB11B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29106825"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":["20148032","25048417","27185633","29026101","31001871"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Mitchell-Riley syndrome, MIM#\t615710"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSP47","colligen"],"biotype":"protein_coding","hgnc_id":"HGNC:1546","gene_name":"serpin family H member 1","omim_gene":["600943"],"alias_name":["collagen binding protein 1"],"gene_symbol":"SERPINH1","hgnc_symbol":"SERPINH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:75273101-75283828","ensembl_id":"ENSG00000149257"}},"GRch38":{"90":{"location":"11:75562056-75572783","ensembl_id":"ENSG00000149257"}}},"hgnc_date_symbol_changed":"1994-01-10"},"entity_type":"gene","entity_name":"SERPINH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20188343","25510505","31179625","29520608"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Osteogenesis imperfecta, type X, MIM# 613848","Osteogenesis imperfecta type 10, MONDO:0013459"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SP75","FLJ32920","HSD-3.8","TPIS","CT140","CILD28"],"biotype":"protein_coding","hgnc_id":"HGNC:11212","gene_name":"sperm associated antigen 1","omim_gene":["603395"],"alias_name":null,"gene_symbol":"SPAG1","hgnc_symbol":"SPAG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:101170134-101271506","ensembl_id":"ENSG00000104450"}},"GRch38":{"90":{"location":"8:100157906-100259278","ensembl_id":"ENSG00000104450"}}},"hgnc_date_symbol_changed":"1997-09-12"},"entity_type":"gene","entity_name":"SPAG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32622824","32502479","24055112"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 28 (MIM#615505)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RANK","CD265","FEO"],"biotype":"protein_coding","hgnc_id":"HGNC:11908","gene_name":"TNF receptor superfamily member 11a","omim_gene":["603499"],"alias_name":null,"gene_symbol":"TNFRSF11A","hgnc_symbol":"TNFRSF11A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:59992520-60058516","ensembl_id":"ENSG00000141655"}},"GRch38":{"90":{"location":"18:62325287-62391292","ensembl_id":"ENSG00000141655"}}},"hgnc_date_symbol_changed":"1998-12-04"},"entity_type":"gene","entity_name":"TNFRSF11A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18606301","32048120","40222603","36740137","35812760","33037392","31163101"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Osteopetrosis, autosomal recessive 7 - MIM# 612301","familial expansile osteolysis, MONDO:0008275"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ11200"],"biotype":"protein_coding","hgnc_id":"HGNC:25640","gene_name":"UFM1 specific peptidase 2","omim_gene":["611482"],"alias_name":null,"gene_symbol":"UFSP2","hgnc_symbol":"UFSP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:186320694-186347139","ensembl_id":"ENSG00000109775"}},"GRch38":{"90":{"location":"4:185399540-185425985","ensembl_id":"ENSG00000109775"}}},"hgnc_date_symbol_changed":"2008-03-25"},"entity_type":"gene","entity_name":"UFSP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33473208","26428751","28892125","32755715","37214758"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Developmental and epileptic encephalopathy 106, MIM#\t620028","Hip dysplasia, Beukes type, MIM#142669","Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FAAH","FLJ25287"],"biotype":"protein_coding","hgnc_id":"HGNC:21197","gene_name":"fatty acid 2-hydroxylase","omim_gene":["611026"],"alias_name":["fatty acid hydroxylase"],"gene_symbol":"FA2H","hgnc_symbol":"FA2H","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:74746853-74808729","ensembl_id":"ENSG00000103089"}},"GRch38":{"90":{"location":"16:74712955-74774831","ensembl_id":"ENSG00000103089"}}},"hgnc_date_symbol_changed":"2003-10-31"},"entity_type":"gene","entity_name":"FA2H","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29423566","31135052","18463364","19068277","20104589"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Spastic paraplegia 35, autosomal recessive, MIM#611026"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0362","DBS","OST","ARHGEF14"],"biotype":"protein_coding","hgnc_id":"HGNC:14576","gene_name":"MCF.2 cell line derived transforming sequence like","omim_gene":["609499"],"alias_name":null,"gene_symbol":"MCF2L","hgnc_symbol":"MCF2L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:113548692-113754053","ensembl_id":"ENSG00000126217"}},"GRch38":{"90":{"location":"13:112894378-113099739","ensembl_id":"ENSG00000126217"}}},"hgnc_date_symbol_changed":"2001-02-08"},"entity_type":"gene","entity_name":"MCF2L","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["36760094"],"evidence":["Expert Review Red","Literature"],"phenotypes":["vascular malformation MONDO:0024291, MCF2L-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6556","gene_name":"leucine zipper and EF-hand containing transmembrane protein 1","omim_gene":["604407"],"alias_name":["Mdm38 homolog (yeast)"],"gene_symbol":"LETM1","hgnc_symbol":"LETM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:1813206-1857974","ensembl_id":"ENSG00000168924"}},"GRch38":{"90":{"location":"4:1811479-1856247","ensembl_id":"ENSG00000168924"}}},"hgnc_date_symbol_changed":"1998-05-13"},"entity_type":"gene","entity_name":"LETM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36055214"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1635","TNRC11L","TRALPUSH","TRALP"],"biotype":"protein_coding","hgnc_id":"HGNC:16050","gene_name":"mediator complex subunit 12 like","omim_gene":["611318"],"alias_name":null,"gene_symbol":"MED12L","hgnc_symbol":"MED12L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:150803484-151154860","ensembl_id":"ENSG00000144893"}},"GRch38":{"90":{"location":"3:151085697-151437072","ensembl_id":"ENSG00000144893"}}},"hgnc_date_symbol_changed":"2004-11-24"},"entity_type":"gene","entity_name":"MED12L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31155615"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, MED12L-related","Intellectual disability","Seizures","Autism"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ12387"],"biotype":"protein_coding","hgnc_id":"HGNC:20716","gene_name":"kinesin light chain 2","omim_gene":["611729"],"alias_name":null,"gene_symbol":"KLC2","hgnc_symbol":"KLC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:66024765-66035331","ensembl_id":"ENSG00000174996"}},"GRch38":{"90":{"location":"11:66257294-66267860","ensembl_id":"ENSG00000174996"}}},"hgnc_date_symbol_changed":"2005-09-13"},"entity_type":"gene","entity_name":"KLC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26385635"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Spastic paraplegia, optic atrophy, and neuropathy MIM#609541"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["SV/CNV"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["AMCD2B","DA2B","FSSV","DKFZp779M2348"],"biotype":"protein_coding","hgnc_id":"HGNC:11950","gene_name":"troponin T3, fast skeletal type","omim_gene":["600692"],"alias_name":["troponin-T3, skeletal, fast"],"gene_symbol":"TNNT3","hgnc_symbol":"TNNT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:1940792-1959936","ensembl_id":"ENSG00000130595"}},"GRch38":{"90":{"location":"11:1919562-1938706","ensembl_id":"ENSG00000130595"}}},"hgnc_date_symbol_changed":"1994-07-25"},"entity_type":"gene","entity_name":"TNNT3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33977145","29266598","23775847"],"evidence":["Expert Review Green","Other","Expert Review Green"],"phenotypes":["Nemaline myopathy MONDO:0018958"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"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":[]},{"gene_data":{"alias":["MRP7","ABC35","TNR-CFTR","dJ760C5.1","CFTR/MRP"],"biotype":"protein_coding","hgnc_id":"HGNC:1884","gene_name":"cystic fibrosis transmembrane conductance regulator","omim_gene":["602421"],"alias_name":["ATP-binding cassette sub-family C, member 7"],"gene_symbol":"CFTR","hgnc_symbol":"CFTR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:117105838-117356025","ensembl_id":"ENSG00000001626"}},"GRch38":{"90":{"location":"7:117465784-117715971","ensembl_id":"ENSG00000001626"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CFTR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cystic fibrosis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":154,"hash_id":null,"name":"Pancreatitis","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with hereditary pancreatitis. The aetiology of recurrent acute and chronic pancreatitis is often multifactorial, and common variants in several genes have been implicated in susceptibility.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Pancreatitis' panel, with all differences resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.6","version_created":"2024-08-08T07:17:52.187056+10:00","relevant_disorders":["Pancreatitis","HP:0001733"],"stats":{"number_of_genes":9,"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":["FLJ44734","IGF-II"],"biotype":"protein_coding","hgnc_id":"HGNC:5466","gene_name":"insulin like growth factor 2","omim_gene":["147470"],"alias_name":["somatomedin A","preptin"],"gene_symbol":"IGF2","hgnc_symbol":"IGF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:2150342-2170833","ensembl_id":"ENSG00000167244"}},"GRch38":{"90":{"location":"11:2129112-2141238","ensembl_id":"ENSG00000167244"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"IGF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31544945"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Silver-Russell syndrome 3 MIM#616489"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","tags":[],"panel":{"id":160,"hash_id":null,"name":"Pierre Robin Sequence","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.64","version_created":"2026-04-12T14:13:00.975329+10:00","relevant_disorders":["Pierre Robin sequence","HP:0000201"],"stats":{"number_of_genes":55,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Cav2.2","CACNN"],"biotype":"protein_coding","hgnc_id":"HGNC:1389","gene_name":"calcium voltage-gated channel subunit alpha1 B","omim_gene":["601012"],"alias_name":null,"gene_symbol":"CACNA1B","hgnc_symbol":"CACNA1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:140772241-141019076","ensembl_id":"ENSG00000148408"}},"GRch38":{"90":{"location":"9:137877789-138124624","ensembl_id":"ENSG00000148408"}}},"hgnc_date_symbol_changed":"1995-06-01"},"entity_type":"gene","entity_name":"CACNA1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30982612"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM#\t618497"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ODC"],"biotype":"protein_coding","hgnc_id":"HGNC:8109","gene_name":"ornithine decarboxylase 1","omim_gene":["165640"],"alias_name":null,"gene_symbol":"ODC1","hgnc_symbol":"ODC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:10580094-10588630","ensembl_id":"ENSG00000115758"}},"GRch38":{"90":{"location":"2:10439968-10448504","ensembl_id":"ENSG00000115758"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ODC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["30475435","30239107","34477286"],"evidence":["Expert Review Red","Literature","Expert Review Green","Literature"],"phenotypes":["Bachmann-Bupp syndrome\t619075"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GC1","FLJ13044","NET44","EIEE3"],"biotype":"protein_coding","hgnc_id":"HGNC:19954","gene_name":"solute carrier family 25 member 22","omim_gene":["609302"],"alias_name":null,"gene_symbol":"SLC25A22","hgnc_symbol":"SLC25A22","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:790475-798316","ensembl_id":"ENSG00000177542"}},"GRch38":{"90":{"location":"11:790475-798333","ensembl_id":"ENSG00000177542"}}},"hgnc_date_symbol_changed":"2002-12-10"},"entity_type":"gene","entity_name":"SLC25A22","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15592994","19780765","24596948","33821742","33342683","31285529"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Developmental and epileptic encephalopathy 3, MIM# 609304"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Htra2-beta","PPP1R156"],"biotype":"protein_coding","hgnc_id":"HGNC:10781","gene_name":"transformer 2 beta homolog","omim_gene":["602719"],"alias_name":["protein phosphatase 1, regulatory subunit 156"],"gene_symbol":"TRA2B","hgnc_symbol":"TRA2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:185633694-185655924","ensembl_id":"ENSG00000136527"}},"GRch38":{"90":{"location":"3:185915906-185938136","ensembl_id":"ENSG00000136527"}}},"hgnc_date_symbol_changed":"2009-02-27"},"entity_type":"gene","entity_name":"TRA2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 36549593"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ramond-Elliott neurodevelopmental syndrome, MIM# 621421"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC10527","DKFZP564J0123","E3-3","2P1"],"biotype":"protein_coding","hgnc_id":"HGNC:29918","gene_name":"NADH:ubiquinone oxidoreductase complex assembly factor 3","omim_gene":["612911"],"alias_name":null,"gene_symbol":"NDUFAF3","hgnc_symbol":"NDUFAF3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:49057892-49060928","ensembl_id":"ENSG00000178057"}},"GRch38":{"90":{"location":"3:49020459-49023495","ensembl_id":"ENSG00000178057"}}},"hgnc_date_symbol_changed":"2009-03-18"},"entity_type":"gene","entity_name":"NDUFAF3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27986404","29344937","19463981"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MLRQ","CI-9k"],"biotype":"protein_coding","hgnc_id":"HGNC:7687","gene_name":"NDUFA4, mitochondrial complex associated","omim_gene":["603833"],"alias_name":["complex I 9kDa subunit","NADH-ubiquinone oxidoreductase MLRQ subunit"],"gene_symbol":"NDUFA4","hgnc_symbol":"NDUFA4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:10971578-10979883","ensembl_id":"ENSG00000189043"}},"GRch38":{"90":{"location":"7:10931951-10940256","ensembl_id":"ENSG00000189043"}}},"hgnc_date_symbol_changed":"1996-08-30"},"entity_type":"gene","entity_name":"NDUFA4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30361421","28988874","23746447"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065","Leigh syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20128"],"biotype":"protein_coding","hgnc_id":"HGNC:14347","gene_name":"BCAS3, microtubule associated cell migration factor","omim_gene":["607470"],"alias_name":["Rudhira"],"gene_symbol":"BCAS3","hgnc_symbol":"BCAS3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:58754814-59470199","ensembl_id":"ENSG00000141376"}},"GRch38":{"90":{"location":"17:60677453-61392838","ensembl_id":"ENSG00000141376"}}},"hgnc_date_symbol_changed":"2001-01-09"},"entity_type":"gene","entity_name":"BCAS3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34022130"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hengel-Maroofian-Schols syndrome, MIM# 619641"],"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":["UBOX1","CHIP","SDCCAG7","HSPABP2","NY-CO-7"],"biotype":"protein_coding","hgnc_id":"HGNC:11427","gene_name":"STIP1 homology and U-box containing protein 1","omim_gene":["607207"],"alias_name":null,"gene_symbol":"STUB1","hgnc_symbol":"STUB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:730224-732870","ensembl_id":"ENSG00000103266"}},"GRch38":{"90":{"location":"16:680224-682870","ensembl_id":"ENSG00000103266"}}},"hgnc_date_symbol_changed":"1999-11-25"},"entity_type":"gene","entity_name":"STUB1","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":["EVA"],"biotype":"protein_coding","hgnc_id":"HGNC:3496","gene_name":"myelin protein zero like 2","omim_gene":["604873"],"alias_name":null,"gene_symbol":"MPZL2","hgnc_symbol":"MPZL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118124118-118135251","ensembl_id":"ENSG00000149573"}},"GRch38":{"90":{"location":"11:118253403-118264536","ensembl_id":"ENSG00000149573"}}},"hgnc_date_symbol_changed":"2007-08-01"},"entity_type":"gene","entity_name":"MPZL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29982980","29961571"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal recessive 111, MIM#618145"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP586G0522","ACT1","CIKS"],"biotype":"protein_coding","hgnc_id":"HGNC:1343","gene_name":"TRAF3 interacting protein 2","omim_gene":["607043"],"alias_name":null,"gene_symbol":"TRAF3IP2","hgnc_symbol":"TRAF3IP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:111877657-111927481","ensembl_id":"ENSG00000056972"}},"GRch38":{"90":{"location":"6:111556454-111606278","ensembl_id":"ENSG00000056972"}}},"hgnc_date_symbol_changed":"2005-04-13"},"entity_type":"gene","entity_name":"TRAF3IP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24120361","31292894","20660351","34289170","33825088","33359359","32350852","31292894","30237576","28640246"],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Expert Review Green"],"phenotypes":["Candidiasis, familial, 8, MIM# 615527"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["4-1BB-L"],"biotype":"protein_coding","hgnc_id":"HGNC:11939","gene_name":"TNF superfamily member 9","omim_gene":["606182"],"alias_name":["receptor 4-1BB ligand","homolog of mouse 4-1BB-L"],"gene_symbol":"TNFSF9","hgnc_symbol":"TNFSF9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:6531010-6535931","ensembl_id":"ENSG00000125657"}},"GRch38":{"90":{"location":"19:6530999-6535928","ensembl_id":"ENSG00000125657"}}},"hgnc_date_symbol_changed":"1998-12-04"},"entity_type":"gene","entity_name":"TNFSF9","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["35657354"],"evidence":["Expert Review Red","Expert list","Literature"],"phenotypes":["Hereditary susceptibility to infections, MONDO:0015979, TNFSF9-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6113","gene_name":"interleukin 1 receptor associated kinase 2","omim_gene":["603304"],"alias_name":null,"gene_symbol":"IRAK2","hgnc_symbol":"IRAK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:10206549-10285427","ensembl_id":"ENSG00000134070"}},"GRch38":{"90":{"location":"3:10164865-10243743","ensembl_id":"ENSG00000134070"}}},"hgnc_date_symbol_changed":"1998-06-22"},"entity_type":"gene","entity_name":"IRAK2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 39299377"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Immune dysregulation, MONDO:0957790, IRAK2-related"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":231,"hash_id":null,"name":"Defects of intrinsic and innate immunity","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause defects in intrinsic and innate immunity, including the following:\r\n- Mendelian susceptibility to mycobacterial disease (MSMD)\r\n- Epidermodysplasia verruciformis (HPV)\r\n- Predisposition to severe viral infection\r\n- Herpes simplex encephalitis (HSE)\r\n- Predisposition to mucocutaneous candidiasis\r\n- Other inborn errors of immunity related to non-haematopoietic tissues\r\n- Other inborn errors of immunity related to leukocytes\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":"1.36","version_created":"2026-04-08T12:35:08.612526+10:00","relevant_disorders":["Unusual infections","HP:0032101"],"stats":{"number_of_genes":86,"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":[]},{"gene_data":{"alias":["MDA-5","Hlcd","MDA5","IDDM19"],"biotype":"protein_coding","hgnc_id":"HGNC:18873","gene_name":"interferon induced with helicase C domain 1","omim_gene":["606951"],"alias_name":["helicard","melanoma differentiation-associated gene 5"],"gene_symbol":"IFIH1","hgnc_symbol":"IFIH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:163123589-163175213","ensembl_id":"ENSG00000115267"}},"GRch38":{"90":{"location":"2:162267079-162318703","ensembl_id":"ENSG00000115267"}}},"hgnc_date_symbol_changed":"2004-06-25"},"entity_type":"gene","entity_name":"IFIH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28716935","29018476"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Severe viral respiratory infections","Rhinovirus and other RNA viruses"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":237,"hash_id":null,"name":"Susceptibility to Viral Infections","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital). It is currently maintained by VCGS.\r\n\r\nUpdated with the 2019 International Union of Immunological Societies Committee classification, Tangye et al. 2019 and the COVID Human Genetic Effort list, Casanova et al 2020.","status":"public","version":"1.10","version_created":"2026-03-26T15:17:02.053015+11:00","relevant_disorders":["Recurrent viral infections","HP:0004429; Severe viral infection","HP:0031691"],"stats":{"number_of_genes":54,"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":[]},{"gene_data":{"alias":["DRP1","DVLP","HDYNIV","DYMPLE","VPS1"],"biotype":"protein_coding","hgnc_id":"HGNC:2973","gene_name":"dynamin 1 like","omim_gene":["603850"],"alias_name":null,"gene_symbol":"DNM1L","hgnc_symbol":"DNM1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:32832134-32898486","ensembl_id":"ENSG00000087470"}},"GRch38":{"90":{"location":"12:32679200-32745650","ensembl_id":"ENSG00000087470"}}},"hgnc_date_symbol_changed":"2000-04-12"},"entity_type":"gene","entity_name":"DNM1L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["31587467, 27145208, 26604000, 27301544, 26931468, 33718295, 30109270, 26825290, 27328748"],"evidence":["Literature","ClinGen","Expert Review Green"],"phenotypes":["Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726"],"mode_of_inheritance":"BOTH monoallelic and 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":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RAB3GAP","KIAA0066","RAB3GAP130","WARBM1"],"biotype":"protein_coding","hgnc_id":"HGNC:17063","gene_name":"RAB3 GTPase activating protein catalytic subunit 1","omim_gene":["602536"],"alias_name":null,"gene_symbol":"RAB3GAP1","hgnc_symbol":"RAB3GAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:135809835-135933964","ensembl_id":"ENSG00000115839"}},"GRch38":{"90":{"location":"2:135052265-135176394","ensembl_id":"ENSG00000115839"}}},"hgnc_date_symbol_changed":"2005-08-23"},"entity_type":"gene","entity_name":"RAB3GAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15696165","20512159","23420520","23420520","30730599"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Warburg micro syndrome 1, MIM# 600118","Martsolf syndrome 2, MIM# 619420"],"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":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PAN2","SDR7C4"],"biotype":"protein_coding","hgnc_id":"HGNC:19979","gene_name":"retinol dehydrogenase 14 (all-trans/9-cis/11-cis)","omim_gene":["616796"],"alias_name":["short chain dehydrogenase/reductase family 7C, member 4"],"gene_symbol":"RDH14","hgnc_symbol":"RDH14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:18735989-18741946","ensembl_id":"ENSG00000240857"}},"GRch38":{"90":{"location":"2:18554723-18560680","ensembl_id":"ENSG00000240857"}}},"hgnc_date_symbol_changed":"2002-12-11"},"entity_type":"gene","entity_name":"RDH14","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["34848785"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, RDH14-related"],"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":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1171","TLDC6","DFNA65"],"biotype":"protein_coding","hgnc_id":"HGNC:29203","gene_name":"TBC1 domain family member 24","omim_gene":["613577"],"alias_name":["TBC/LysM-associated domain containing 6","skywalker homolog (Drosophila)"],"gene_symbol":"TBC1D24","hgnc_symbol":"TBC1D24","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:2525147-2555735","ensembl_id":"ENSG00000162065"}},"GRch38":{"90":{"location":"16:2475051-2509560","ensembl_id":"ENSG00000162065"}}},"hgnc_date_symbol_changed":"2006-04-07"},"entity_type":"gene","entity_name":"TBC1D24","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25719194"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Developmental and epileptic encephalopathy 16, MIM#\t615338","DOORS syndrome, MIM#\t220500"],"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":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1784","KIAA1987","FANCP"],"biotype":"protein_coding","hgnc_id":"HGNC:23845","gene_name":"SLX4 structure-specific endonuclease subunit","omim_gene":["613278"],"alias_name":["Fanconi anemia, complementation group P"],"gene_symbol":"SLX4","hgnc_symbol":"SLX4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:3631182-3661599","ensembl_id":"ENSG00000188827"}},"GRch38":{"90":{"location":"16:3581181-3611598","ensembl_id":"ENSG00000188827"}}},"hgnc_date_symbol_changed":"2010-09-13"},"entity_type":"gene","entity_name":"SLX4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21240277","21240275","23093618","26453996"],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":["Fanconi anaemia, complementation group P, MIM# 613951"],"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":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ32029","BM32A"],"biotype":"protein_coding","hgnc_id":"HGNC:20898","gene_name":"phosphoglucomutase 2 like 1","omim_gene":["611610"],"alias_name":["glucose-1,6-bisphosphate synthase"],"gene_symbol":"PGM2L1","hgnc_symbol":"PGM2L1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:74041363-74109518","ensembl_id":"ENSG00000165434"}},"GRch38":{"90":{"location":"11:74330318-74398473","ensembl_id":"ENSG00000165434"}}},"hgnc_date_symbol_changed":"2004-01-20"},"entity_type":"gene","entity_name":"PGM2L1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33979636"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder"],"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":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ22490","CSPP","JBTS21"],"biotype":"protein_coding","hgnc_id":"HGNC:26193","gene_name":"centrosome and spindle pole associated protein 1","omim_gene":["611654"],"alias_name":null,"gene_symbol":"CSPP1","hgnc_symbol":"CSPP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:67974661-68108498","ensembl_id":"ENSG00000104218"}},"GRch38":{"90":{"location":"8:67062426-67196263","ensembl_id":"ENSG00000104218"}}},"hgnc_date_symbol_changed":"2005-09-06"},"entity_type":"gene","entity_name":"CSPP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24360803","24360808"],"evidence":["Expert Review Green","Expert Review Green","Other","NHS GMS","Victorian Clinical Genetics Services"],"phenotypes":["ORPHA:475  Joubert syndrome","Joubert syndrome 21 \t615636","ORPHA:397715  Joubert syndrome with Jeune asphyxiating thoracic dystrophy","Joubert syndrome 21 615636","ORPHA:564  Meckel syndrome"],"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":["ENaCgamma","SCNEG"],"biotype":"protein_coding","hgnc_id":"HGNC:10602","gene_name":"sodium channel epithelial 1 gamma subunit","omim_gene":["600761"],"alias_name":null,"gene_symbol":"SCNN1G","hgnc_symbol":"SCNN1G","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:23194036-23228204","ensembl_id":"ENSG00000166828"}},"GRch38":{"90":{"location":"16:23182715-23216883","ensembl_id":"ENSG00000166828"}}},"hgnc_date_symbol_changed":"1995-05-10"},"entity_type":"gene","entity_name":"SCNN1G","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review","Emory Genetics Laboratory","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"","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":["KIAA0321"],"biotype":"protein_coding","hgnc_id":"HGNC:20761","gene_name":"zinc finger FYVE-type containing 26","omim_gene":["612012"],"alias_name":["spastizin","FYVE-CENT"],"gene_symbol":"ZFYVE26","hgnc_symbol":"ZFYVE26","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:68194091-68283307","ensembl_id":"ENSG00000072121"}},"GRch38":{"90":{"location":"14:67727374-67816590","ensembl_id":"ENSG00000072121"}}},"hgnc_date_symbol_changed":"2003-04-01"},"entity_type":"gene","entity_name":"ZFYVE26","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["24367272","18394578"],"evidence":["Royal Melbourne Hospital","Expert Review Amber","Expert Review Amber","Royal Melbourne Hospital"],"phenotypes":["Autosomal recessive spastic paraplegia 15, 270700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"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:24316","gene_name":"translational activator of cytochrome c oxidase I","omim_gene":["612958"],"alias_name":null,"gene_symbol":"TACO1","hgnc_symbol":"TACO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:61678231-61685725","ensembl_id":"ENSG00000136463"}},"GRch38":{"90":{"location":"17:63600872-63608365","ensembl_id":"ENSG00000136463"}}},"hgnc_date_symbol_changed":"2009-06-26"},"entity_type":"gene","entity_name":"TACO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Mitochondrial Leukoencephalopathy"],"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":["NARC-1","FH3"],"biotype":"protein_coding","hgnc_id":"HGNC:20001","gene_name":"proprotein convertase subtilisin/kexin type 9","omim_gene":["607786"],"alias_name":null,"gene_symbol":"PCSK9","hgnc_symbol":"PCSK9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:55505221-55530525","ensembl_id":"ENSG00000169174"}},"GRch38":{"90":{"location":"1:55039548-55064852","ensembl_id":"ENSG00000169174"}}},"hgnc_date_symbol_changed":"2003-05-13"},"entity_type":"gene","entity_name":"PCSK9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["24404629","16577715","15654334"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["hypercholesterolemia, autosomal dominant, 3 MONDO:0011369"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":333,"hash_id":null,"name":"Familial hypercholesterolaemia","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes associated with familial hypercholestrolaemia. Please note MBS funding for familial hypercholestrolaemia covers:\r\nCharacterisation of germline variants causing familial hypercholesterolaemia (which must include the LDLR, PCSK9 and APOB genes), requested by a specialist or consultant physician, for a patient:\r\n(a) for whom no familial mutation has been identified; and\r\n(b) who has any of the following:\r\n·         (i) a Dutch Lipid Clinic Network score of at least 6;\r\n·         (ii) an LDL-cholesterol level of at least 6.5 mmol/L in the absence of secondary causes;\r\n·         (iii) an LDL-cholesterol level of between 5.0 and 6.5 mmol/L with signs of premature or accelerated atherogenesis\r\n\r\nPlease also refer to the Dyslipidaemia panel.","status":"public","version":"1.0","version_created":"2024-12-04T13:37:18.095728+11:00","relevant_disorders":["Abnormal circulating cholesterol concentration","HP:0003107"],"stats":{"number_of_genes":12,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8905","gene_name":"phosphoglucomutase 1","omim_gene":["171900"],"alias_name":null,"gene_symbol":"PGM1","hgnc_symbol":"PGM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:64058947-64125916","ensembl_id":"ENSG00000079739"}},"GRch38":{"90":{"location":"1:63593276-63660245","ensembl_id":"ENSG00000079739"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PGM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31563034","26303607","24878975","27206562","29858906","32681750","19625727","24499211"],"evidence":["Expert Review Green","Expert list","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type It, MIM# 614921"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3084,"hash_id":null,"name":"Rhabdomyolysis and Metabolic Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nDepending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.46","version_created":"2026-03-31T19:05:14.301918+11:00","relevant_disorders":["Rhabdomyolysis","HP:0003201;Exercise intolerance","HP:0003546;Metabolic myopathy","MONDO:0020123"],"stats":{"number_of_genes":124,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:33230","gene_name":"zinc finger protein 808","omim_gene":null,"alias_name":null,"gene_symbol":"ZNF808","hgnc_symbol":"ZNF808","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:53030905-53067717","ensembl_id":"ENSG00000198482"}},"GRch38":{"90":{"location":"19:52527652-52564464","ensembl_id":"ENSG00000198482"}}},"hgnc_date_symbol_changed":"2006-12-21"},"entity_type":"gene","entity_name":"ZNF808","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37308312"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Pancreatic agenesis 3, MIM# 620991"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3093,"hash_id":null,"name":"Monogenic Diabetes","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).","status":"public","version":"0.224","version_created":"2026-04-06T18:03:06.439122+10:00","relevant_disorders":["Diabetes mellitus","HP:0000819"],"stats":{"number_of_genes":109,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ20533"],"biotype":"protein_coding","hgnc_id":"HGNC:26050","gene_name":"transmembrane protein 70","omim_gene":["612418"],"alias_name":null,"gene_symbol":"TMEM70","hgnc_symbol":"TMEM70","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:74884672-74895018","ensembl_id":"ENSG00000175606"}},"GRch38":{"90":{"location":"8:73972437-73982783","ensembl_id":"ENSG00000175606"}}},"hgnc_date_symbol_changed":"2005-08-26"},"entity_type":"gene","entity_name":"TMEM70","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (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":["GFAT","GFA","GFAT1"],"biotype":"protein_coding","hgnc_id":"HGNC:4241","gene_name":"glutamine--fructose-6-phosphate transaminase 1","omim_gene":["138292"],"alias_name":null,"gene_symbol":"GFPT1","hgnc_symbol":"GFPT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:69546905-69614382","ensembl_id":"ENSG00000198380"}},"GRch38":{"90":{"location":"2:69319769-69387254","ensembl_id":"ENSG00000198380"}}},"hgnc_date_symbol_changed":"1993-12-14"},"entity_type":"gene","entity_name":"GFPT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Myasthenia, congenital, 12, with tubular aggregates, 610542 (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":["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":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["22897141"],"evidence":["Expert Review Amber","Genomics England PanelApp"],"phenotypes":["Hypopituitarism, MONDO:0005152","Microphthalmia with coloboma 5 (611638)","Holoprosencephaly 3  (142945)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3236,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.208","version_created":"2026-04-02T15:15:10.893013+11:00","relevant_disorders":["Hypopituitarism","HP:0040075"],"stats":{"number_of_genes":118,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CPTASE"],"biotype":"protein_coding","hgnc_id":"HGNC:2330","gene_name":"carnitine palmitoyltransferase 2","omim_gene":["600650"],"alias_name":null,"gene_symbol":"CPT2","hgnc_symbol":"CPT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:53662101-53679869","ensembl_id":"ENSG00000157184"}},"GRch38":{"90":{"location":"1:53196429-53214197","ensembl_id":"ENSG00000157184"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"CPT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24816252","27604308"],"evidence":["Expert Review Green","MetBioNet","South West GLH","NHS GMS"],"phenotypes":["Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia","Carnitine palmitoyltransferase II (CPT2) deficiency (neonatal & infantile forms)","CPT II deficiency, lethal neonatal 608836","CPT deficiency, hepatic, type II 600649","HCM, mixed","DCM","Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DYNII","DYN2","CMTDIB","CMTDI1","DI-CMTB","CMT2M"],"biotype":"protein_coding","hgnc_id":"HGNC:2974","gene_name":"dynamin 2","omim_gene":["602378"],"alias_name":["dynamin II","cytoskeletal protein"],"gene_symbol":"DNM2","hgnc_symbol":"DNM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:10828755-10944164","ensembl_id":"ENSG00000079805"}},"GRch38":{"90":{"location":"19:10718079-10833488","ensembl_id":"ENSG00000079805"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"DNM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Myopathy, centronuclear","Charcot-Marie-Tooth disease, axonal, type 2M"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TIMM14","Tim14","Pam18"],"biotype":"protein_coding","hgnc_id":"HGNC:30528","gene_name":"DnaJ heat shock protein family (Hsp40) member C19","omim_gene":["608977"],"alias_name":null,"gene_symbol":"DNAJC19","hgnc_symbol":"DNAJC19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:180701497-180707562","ensembl_id":"ENSG00000205981"}},"GRch38":{"90":{"location":"3:180983709-180989774","ensembl_id":"ENSG00000205981"}}},"hgnc_date_symbol_changed":"2005-07-28"},"entity_type":"gene","entity_name":"DNAJC19","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["3-methylglutaconic aciduria, type V"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SPH1"],"biotype":"protein_coding","hgnc_id":"HGNC:492","gene_name":"ankyrin 1","omim_gene":["612641"],"alias_name":null,"gene_symbol":"ANK1","hgnc_symbol":"ANK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:41510739-41754280","ensembl_id":"ENSG00000029534"}},"GRch38":{"90":{"location":"8:41653220-41896762","ensembl_id":"ENSG00000029534"}}},"hgnc_date_symbol_changed":"1989-06-06"},"entity_type":"gene","entity_name":"ANK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Spherocytosis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10140","MTO2"],"biotype":"protein_coding","hgnc_id":"HGNC:25481","gene_name":"tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase","omim_gene":["610230"],"alias_name":null,"gene_symbol":"TRMU","hgnc_symbol":"TRMU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:46726772-46753237","ensembl_id":"ENSG00000100416"}},"GRch38":{"90":{"location":"22:46330875-46357340","ensembl_id":"ENSG00000100416"}}},"hgnc_date_symbol_changed":"2005-08-11"},"entity_type":"gene","entity_name":"TRMU","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Liver failure, transient infantile"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:399","gene_name":"albumin","omim_gene":["103600"],"alias_name":null,"gene_symbol":"ALB","hgnc_symbol":"ALB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:74262831-74287129","ensembl_id":"ENSG00000163631"}},"GRch38":{"90":{"location":"4:73397114-73421412","ensembl_id":"ENSG00000163631"}}},"hgnc_date_symbol_changed":"2006-06-30"},"entity_type":"gene","entity_name":"ALB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Analbuminemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MTPOLB","HP55"],"biotype":"protein_coding","hgnc_id":"HGNC:9180","gene_name":"DNA polymerase gamma 2, accessory subunit","omim_gene":["604983"],"alias_name":null,"gene_symbol":"POLG2","hgnc_symbol":"POLG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:62473902-62493154","ensembl_id":"ENSG00000256525"}},"GRch38":{"90":{"location":"17:64477785-64497036","ensembl_id":"ENSG00000256525"}}},"hgnc_date_symbol_changed":"1999-09-16"},"entity_type":"gene","entity_name":"POLG2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["27592148","30157269","21555342"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Mitochondrial DNA depletion syndrome 16 (hepatic type), MIM#\t618528","Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, MIM# 4\t610131"],"mode_of_inheritance":"BOTH monoallelic and 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":[],"biotype":"protein_coding","hgnc_id":"HGNC:14376","gene_name":"acid phosphatase 4","omim_gene":["606362"],"alias_name":["testicular acid phosphatase"],"gene_symbol":"ACP4","hgnc_symbol":"ACP4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:51293672-51298481","ensembl_id":"ENSG00000142513"}},"GRch38":{"90":{"location":"19:50790415-50795224","ensembl_id":"ENSG00000142513"}}},"hgnc_date_symbol_changed":"2017-06-23"},"entity_type":"gene","entity_name":"ACP4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28513613","27843125","33552707"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Amelogenesis imperfecta, type IJ,  MIM#617297","hypoplastic amelogenesis imperfecta"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3564,"hash_id":null,"name":"Amelogenesis imperfecta","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"1.14","version_created":"2026-01-09T15:02:14.439855+11:00","relevant_disorders":["Amelogenesis imperfecta","HP:0000705"],"stats":{"number_of_genes":41,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["JBTS12"],"biotype":"protein_coding","hgnc_id":"HGNC:30497","gene_name":"kinesin family member 7","omim_gene":["611254"],"alias_name":null,"gene_symbol":"KIF7","hgnc_symbol":"KIF7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:90152020-90198682","ensembl_id":"ENSG00000166813"}},"GRch38":{"90":{"location":"15:89608789-89655451","ensembl_id":"ENSG00000166813"}}},"hgnc_date_symbol_changed":"2005-02-07"},"entity_type":"gene","entity_name":"KIF7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26174511","21552264"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Hydrolethalus syndrome 2, MIM# 614120","Acrocallosal syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Slit-2"],"biotype":"protein_coding","hgnc_id":"HGNC:11086","gene_name":"slit guidance ligand 2","omim_gene":["603746"],"alias_name":null,"gene_symbol":"SLIT2","hgnc_symbol":"SLIT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:20254883-20622184","ensembl_id":"ENSG00000145147"}},"GRch38":{"90":{"location":"4:20253260-20620561","ensembl_id":"ENSG00000145147"}}},"hgnc_date_symbol_changed":"1999-06-11"},"entity_type":"gene","entity_name":"SLIT2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["26026792","15130495"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["CAKUT MONDO:0019719, SLIT2-related"],"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":["KIAA0602"],"biotype":"protein_coding","hgnc_id":"HGNC:23794","gene_name":"phosphofurin acidic cluster sorting protein 2","omim_gene":["610423"],"alias_name":null,"gene_symbol":"PACS2","hgnc_symbol":"PACS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:105766900-105864484","ensembl_id":"ENSG00000179364"}},"GRch38":{"90":{"location":"14:105300563-105398147","ensembl_id":"ENSG00000179364"}}},"hgnc_date_symbol_changed":"2005-02-15"},"entity_type":"gene","entity_name":"PACS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34894068","34859793"],"evidence":["Expert Review Green","Expert list","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 66 - MIM#618067"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:11945","gene_name":"troponin I1, slow skeletal type","omim_gene":["191042"],"alias_name":null,"gene_symbol":"TNNI1","hgnc_symbol":"TNNI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:201373625-201398994","ensembl_id":"ENSG00000159173"}},"GRch38":{"90":{"location":"1:201403768-201429866","ensembl_id":"ENSG00000159173"}}},"hgnc_date_symbol_changed":"1989-12-11"},"entity_type":"gene","entity_name":"TNNI1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["34934811"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Arthrogryposis MONDO:0008779, TNNI1-related"],"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":["NEM7"],"biotype":"protein_coding","hgnc_id":"HGNC:1875","gene_name":"cofilin 2","omim_gene":["601443"],"alias_name":["nemaline myopathy type 7"],"gene_symbol":"CFL2","hgnc_symbol":"CFL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:35179593-35184029","ensembl_id":"ENSG00000165410"}},"GRch38":{"90":{"location":"14:34706769-34714823","ensembl_id":"ENSG00000165410"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"CFL2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["17160903","22560515","32697999","29457652","24610938"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Nemaline myopathy 7, MONDO:0012538","Nemaline myopathy 7, autosomal recessive, OMIM:610687"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kv7.3"],"biotype":"protein_coding","hgnc_id":"HGNC:6297","gene_name":"potassium voltage-gated channel subfamily Q member 3","omim_gene":["602232"],"alias_name":null,"gene_symbol":"KCNQ3","hgnc_symbol":"KCNQ3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:133133108-133493200","ensembl_id":"ENSG00000184156"}},"GRch38":{"90":{"location":"8:132120858-132481019","ensembl_id":"ENSG00000184156"}}},"hgnc_date_symbol_changed":"1998-01-12"},"entity_type":"gene","entity_name":"KCNQ3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["33337327","25524373","24851285"],"evidence":["Expert Review Red","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Seizures, benign neonatal, 2, MIM# 121201"],"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":["GluN2B"],"biotype":"protein_coding","hgnc_id":"HGNC:4586","gene_name":"glutamate ionotropic receptor NMDA type subunit 2B","omim_gene":["138252"],"alias_name":null,"gene_symbol":"GRIN2B","hgnc_symbol":"GRIN2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:13693165-14133053","ensembl_id":"ENSG00000273079"}},"GRch38":{"90":{"location":"12:13437942-13981957","ensembl_id":"ENSG00000273079"}}},"hgnc_date_symbol_changed":"1992-09-18"},"entity_type":"gene","entity_name":"GRIN2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28377535"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["GRIN2B-related complex neurodevelopmental disorder MONDO:0700350","Developmental and epileptic encephalopathy 27 MIM#616139","Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM#613970"],"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":["KIAA0540"],"biotype":"protein_coding","hgnc_id":"HGNC:31928","gene_name":"neurobeachin like 2","omim_gene":["614169"],"alias_name":null,"gene_symbol":"NBEAL2","hgnc_symbol":"NBEAL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:47021173-47051193","ensembl_id":"ENSG00000160796"}},"GRch38":{"90":{"location":"3:46979683-47009703","ensembl_id":"ENSG00000160796"}}},"hgnc_date_symbol_changed":"2005-03-04"},"entity_type":"gene","entity_name":"NBEAL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Gray platelet syndrome, MIM# 139090"],"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":["DSPG1","SLRR1A"],"biotype":"protein_coding","hgnc_id":"HGNC:1044","gene_name":"biglycan","omim_gene":["301870"],"alias_name":["biglycan proteoglycan"],"gene_symbol":"BGN","hgnc_symbol":"BGN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:152760397-152775012","ensembl_id":"ENSG00000182492"}},"GRch38":{"90":{"location":"X:153494939-153509554","ensembl_id":"ENSG00000182492"}}},"hgnc_date_symbol_changed":"1989-07-18"},"entity_type":"gene","entity_name":"BGN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27632686","17502576","27236923"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Meester-Loeys syndrome (MIM#300989)","Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106)"],"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":["FLJ30845","CILD12"],"biotype":"protein_coding","hgnc_id":"HGNC:21057","gene_name":"radial spoke head 9 homolog","omim_gene":["612648"],"alias_name":null,"gene_symbol":"RSPH9","hgnc_symbol":"RSPH9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:43612783-43640336","ensembl_id":"ENSG00000172426"}},"GRch38":{"90":{"location":"6:43645046-43672599","ensembl_id":"ENSG00000172426"}}},"hgnc_date_symbol_changed":"2009-02-17"},"entity_type":"gene","entity_name":"RSPH9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25789548","22384920","23993197","19200523","27626380"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ciliary dyskinesia, primary, 12, MIM#612650"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6677","gene_name":"lipoprotein lipase","omim_gene":["609708"],"alias_name":null,"gene_symbol":"LPL","hgnc_symbol":"LPL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:19759228-19824769","ensembl_id":"ENSG00000175445"}},"GRch38":{"90":{"location":"8:19901717-19967258","ensembl_id":"ENSG00000175445"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"LPL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Lipoprotein lipase deficiency MIM#238600"],"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":["CD127"],"biotype":"protein_coding","hgnc_id":"HGNC:6024","gene_name":"interleukin 7 receptor","omim_gene":["146661"],"alias_name":null,"gene_symbol":"IL7R","hgnc_symbol":"IL7R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:35852797-35879705","ensembl_id":"ENSG00000168685"}},"GRch38":{"90":{"location":"5:35852695-35879603","ensembl_id":"ENSG00000168685"}}},"hgnc_date_symbol_changed":"1991-08-07"},"entity_type":"gene","entity_name":"IL7R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["severe combined immunodeficiency 104 MIM#608971"],"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":["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","Mackenzie's Mission"],"phenotypes":["Leukocyte adhesion deficiency, type III, 612840 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["S152","Tp55"],"biotype":"protein_coding","hgnc_id":"HGNC:11922","gene_name":"CD27 molecule","omim_gene":["186711"],"alias_name":null,"gene_symbol":"CD27","hgnc_symbol":"CD27","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:6554033-6560884","ensembl_id":"ENSG00000139193"}},"GRch38":{"90":{"location":"12:6444867-6451718","ensembl_id":"ENSG00000139193"}}},"hgnc_date_symbol_changed":"2006-10-27"},"entity_type":"gene","entity_name":"CD27","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22197273","22801960","22365582","25843314","11062504"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Lymphoproliferative syndrome 2, MIM# 615122"],"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":["GFI1A","GFI-1"],"biotype":"protein_coding","hgnc_id":"HGNC:4237","gene_name":"growth factor independent 1 transcriptional repressor","omim_gene":["600871"],"alias_name":null,"gene_symbol":"GFI1","hgnc_symbol":"GFI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:92940319-92952433","ensembl_id":"ENSG00000162676"}},"GRch38":{"90":{"location":"1:92474762-92486876","ensembl_id":"ENSG00000162676"}}},"hgnc_date_symbol_changed":"1994-10-17"},"entity_type":"gene","entity_name":"GFI1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["12778173","20560965","11810106","22684987"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Neutropenia, severe congenital 2, autosomal dominant, MIM# 613107"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","immunological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["cblB","CFAP23"],"biotype":"protein_coding","hgnc_id":"HGNC:19331","gene_name":"methylmalonic aciduria (cobalamin deficiency) cblB type","omim_gene":["607568"],"alias_name":["ATP:cob(I)alamin adenosyltransferase","cilia and flagella associated protein 23"],"gene_symbol":"MMAB","hgnc_symbol":"MMAB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:109991542-110011679","ensembl_id":"ENSG00000139428"}},"GRch38":{"90":{"location":"12:109553737-109573874","ensembl_id":"ENSG00000139428"}}},"hgnc_date_symbol_changed":"2003-02-11"},"entity_type":"gene","entity_name":"MMAB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, MIM#251110"],"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:2932","gene_name":"dentin matrix acidic phosphoprotein 1","omim_gene":["600980"],"alias_name":null,"gene_symbol":"DMP1","hgnc_symbol":"DMP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:88571459-88585513","ensembl_id":"ENSG00000152592"}},"GRch38":{"90":{"location":"4:87650307-87664361","ensembl_id":"ENSG00000152592"}}},"hgnc_date_symbol_changed":"1995-08-10"},"entity_type":"gene","entity_name":"DMP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Hypophosphatemic rickets MIM#241520"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","skeletal"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LFB3","VHNF1","HNF1beta","MODY5"],"biotype":null,"hgnc_id":"HGNC:11630","gene_name":"HNF1 homeobox B","omim_gene":["189907"],"alias_name":null,"gene_symbol":"HNF1B","hgnc_symbol":"HNF1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:36046435-36105237","ensembl_id":"ENSG00000108753"}},"GRch38":{"90":{"location":"17:37686432-37745247","ensembl_id":"ENSG00000275410"}}},"hgnc_date_symbol_changed":"2007-08-24"},"entity_type":"gene","entity_name":"HNF1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27234911"],"evidence":["Expert Review Green","Expert list","Expert Review Green","Expert list"],"phenotypes":["Renal cysts and diabetes syndrome, MIM#137920"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:12261","gene_name":"triadin","omim_gene":["603283"],"alias_name":null,"gene_symbol":"TRDN","hgnc_symbol":"TRDN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:123537483-123958238","ensembl_id":"ENSG00000186439"}},"GRch38":{"90":{"location":"6:123216339-123637093","ensembl_id":"ENSG00000186439"}}},"hgnc_date_symbol_changed":"1999-12-17"},"entity_type":"gene","entity_name":"TRDN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22422768","31983240","30649896","25922419"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Long QT syndrome","Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["p110D"],"biotype":"protein_coding","hgnc_id":"HGNC:8977","gene_name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta","omim_gene":["602839"],"alias_name":["phosphatidylinositol 3-kinase, catalytic, delta polypeptide","phosphoinositide-3-kinase C"],"gene_symbol":"PIK3CD","hgnc_symbol":"PIK3CD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:9711790-9789172","ensembl_id":"ENSG00000171608"}},"GRch38":{"90":{"location":"1:9651732-9729114","ensembl_id":"ENSG00000171608"}}},"hgnc_date_symbol_changed":"1997-06-12"},"entity_type":"gene","entity_name":"PIK3CD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 39644063"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Immunodeficiency 14B, autosomal recessive, MIM# 619281","Immunodeficiency 14A, autosomal dominant, MIM# 615513"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":4389,"hash_id":null,"name":"Autoimmune Lymphoproliferative Syndrome","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel has been compiled based on the following study:\r\n\r\nGenetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital Medical Center (PMID: 39060684)","status":"public","version":"1.12","version_created":"2026-02-26T20:52:40.847942+11:00","relevant_disorders":[],"stats":{"number_of_genes":20,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39060684","17517660","33011939"],"evidence":["Expert Review Green","Literature"],"phenotypes":["autoimmune lymphoproliferative syndrome type 4 MONDO:0013767"],"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":["HOT7T175","AXOR12"],"biotype":"protein_coding","hgnc_id":"HGNC:4510","gene_name":"KISS1 receptor","omim_gene":["604161"],"alias_name":null,"gene_symbol":"KISS1R","hgnc_symbol":"KISS1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:917287-921015","ensembl_id":"ENSG00000116014"}},"GRch38":{"90":{"location":"19:917287-921015","ensembl_id":"ENSG00000116014"}}},"hgnc_date_symbol_changed":"2006-02-15"},"entity_type":"gene","entity_name":"KISS1R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23349759","22619348","21193544","17164310","14573733","27094476","33819414"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hypogonadotropic hypogonadism 8 with or without anosmia, MIM# 614837"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NOTCH2NLC"],"biotype":"gene with protein product","hgnc_id":"HGNC:53924","gene_name":"Notch 2 N-Terminal Like C","omim_gene":["618025"],"alias_name":["notch 2 N-terminal like C"],"gene_symbol":"NOTCH2NLC","hgnc_symbol":"NOTCH2NLC","hgnc_release":"2000-01-01","ensembl_genes":{"GRch37":{"82":{"location":"1:150077036-150158248","ensembl_id":"ENSG00000286219"}},"GRch38":{"90":{"location":"1:149390621-149471833","ensembl_id":"ENSG00000286219"}}},"hgnc_date_symbol_changed":"2000-01-01"},"entity_type":"str","entity_name":"NOTCH2NLC_NIID_GGC","confidence_level":"3","penetrance":null,"publications":["31178126","31332381","31819945","33887199","33943039","32250060","31332380","32852534","32989102","34333668"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Neuronal intranuclear inclusion disease MIM#603472","Oculopharyngodistal myopathy 3 MIM#619473","Tremor, hereditary essential, 6 MIM#618866"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"GGC","chromosome":"1","grch37_coordinates":[145209324,145209344],"grch38_coordinates":[149390803,149390829],"normal_repeats":40,"pathogenic_repeats":60,"tags":["adult-onset"],"panel":{"id":3597,"hash_id":null,"name":"Repeat Disorders","disease_group":"","disease_sub_group":"","description":"This panel contains reported short tandem repeat (STR) expansion disorders. The naming convention of the STRs is based on the name of the condition or fragile site that the expansion is associated with. \r\nThe panel was developed by RMH and WEHI, and is maintained by RMH.\r\n\r\nThis panel is used as a research panel by the Australian Genomics Acute Care study.","status":"public","version":"0.272","version_created":"2026-01-02T15:16:39.779953+11:00","relevant_disorders":[],"stats":{"number_of_genes":0,"number_of_strs":76,"number_of_regions":0},"types":[{"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"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}}]}