{"count":36039,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=100","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=98","results":[{"gene_data":{"alias":["RMRPR","RRP2","NME1"],"biotype":null,"hgnc_id":"HGNC:10031","gene_name":"RNA component of mitochondrial RNA processing endoribonuclease","omim_gene":["157660"],"alias_name":null,"gene_symbol":"RMRP","hgnc_symbol":"RMRP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:35657748-35658015","ensembl_id":"ENSG00000269900"}},"GRch38":{"90":{"location":"9:35657751-35658018","ensembl_id":"ENSG00000269900"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"RMRP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland","Victorian Clinical Genetics Services","Melbourne Genomics Health Alliance Perinatal Autopsy Flagship"],"phenotypes":["Anauxetic dysplasia 1, MIM#607095"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["non-coding gene"],"panel":{"id":28,"hash_id":null,"name":"Skeletal Dysplasia_Fetal","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.","status":"public","version":"0.246","version_created":"2026-03-02T10:22:48.751874+11:00","relevant_disorders":[],"stats":{"number_of_genes":157,"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."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11605","gene_name":"T-box 6","omim_gene":["602427"],"alias_name":null,"gene_symbol":"TBX6","hgnc_symbol":"TBX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:30097114-30103208","ensembl_id":"ENSG00000149922"}},"GRch38":{"90":{"location":"16:30085793-30091887","ensembl_id":"ENSG00000149922"}}},"hgnc_date_symbol_changed":"1998-08-10"},"entity_type":"gene","entity_name":"TBX6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8954725","20503311","23335591","25564734","31015262","30307510","31015262"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Melbourne Genomics Health Alliance Perinatal Autopsy Flagship"],"phenotypes":["Spondylocostal dysostosis 5, 122600"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":28,"hash_id":null,"name":"Skeletal Dysplasia_Fetal","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.","status":"public","version":"0.246","version_created":"2026-03-02T10:22:48.751874+11:00","relevant_disorders":[],"stats":{"number_of_genes":157,"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."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Ndt80","pqn-47","MRF"],"biotype":"protein_coding","hgnc_id":"HGNC:1181","gene_name":"myelin regulatory factor","omim_gene":["608329"],"alias_name":["myelin gene regulatory factor"],"gene_symbol":"MYRF","hgnc_symbol":"MYRF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:61520114-61555990","ensembl_id":"ENSG00000124920"}},"GRch38":{"90":{"location":"11:61752642-61788518","ensembl_id":"ENSG00000124920"}}},"hgnc_date_symbol_changed":"2012-12-19"},"entity_type":"gene","entity_name":"MYRF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31048900","31172260","31266062","31700225"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Nanophthalmos 1, MIM# 600165"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":42,"hash_id":null,"name":"Anophthalmia_Microphthalmia_Coloboma","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with isolated and syndromic anophthalmia, microphthalmia and coloboma.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Anophthalmia or Microphthalmia' v1.31 and 'Ocular coloboma' v1.38 panels, with discrepancies reviewed and reciprocal feedback provided to Genomics England.","status":"public","version":"1.57","version_created":"2026-03-03T11:23:37.804849+11:00","relevant_disorders":["Anophthalmia","HP:0000528;Microphthalmia","HP:0000568;Coloboma","HP:0000589"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PI4K-ALPHA","pi4K230"],"biotype":"protein_coding","hgnc_id":"HGNC:8983","gene_name":"phosphatidylinositol 4-kinase alpha","omim_gene":["600286"],"alias_name":null,"gene_symbol":"PI4KA","hgnc_symbol":"PI4KA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:21061979-21213705","ensembl_id":"ENSG00000241973"}},"GRch38":{"90":{"location":"22:20707691-20859417","ensembl_id":"ENSG00000241973"}}},"hgnc_date_symbol_changed":"2007-08-02"},"entity_type":"gene","entity_name":"PI4KA","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 25855803"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531"],"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":["LAP1B","FLJ13142"],"biotype":"protein_coding","hgnc_id":"HGNC:29456","gene_name":"torsin 1A interacting protein 1","omim_gene":["614512"],"alias_name":["lamina associated polypeptide 1B"],"gene_symbol":"TOR1AIP1","hgnc_symbol":"TOR1AIP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:179851177-179894135","ensembl_id":"ENSG00000143337"}},"GRch38":{"90":{"location":"1:179882042-179925000","ensembl_id":"ENSG00000143337"}}},"hgnc_date_symbol_changed":"2005-06-07"},"entity_type":"gene","entity_name":"TOR1AIP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24856141","31299614","30723199","27342937","32055997"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072","Progeroid appearance","Cataracts","Microcephaly","Deafness","Contractures"],"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":["hILP"],"biotype":"protein_coding","hgnc_id":"HGNC:592","gene_name":"X-linked inhibitor of apoptosis","omim_gene":["300079"],"alias_name":null,"gene_symbol":"XIAP","hgnc_symbol":"XIAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:122993574-123047829","ensembl_id":"ENSG00000101966"}},"GRch38":{"90":{"location":"X:123859724-123913979","ensembl_id":"ENSG00000101966"}}},"hgnc_date_symbol_changed":"2008-03-04"},"entity_type":"gene","entity_name":"XIAP","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":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PCTAIRE2BP"],"biotype":"protein_coding","hgnc_id":"HGNC:30831","gene_name":"tudor domain containing 7","omim_gene":["611258"],"alias_name":null,"gene_symbol":"TDRD7","hgnc_symbol":"TDRD7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:100174232-100258407","ensembl_id":"ENSG00000196116"}},"GRch38":{"90":{"location":"9:97411950-97496125","ensembl_id":"ENSG00000196116"}}},"hgnc_date_symbol_changed":"2004-04-01"},"entity_type":"gene","entity_name":"TDRD7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28837160","21436445","32420594"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cataract 36 613887","glaucoma","nonobstructive azoospermia","arrested spermatogenesis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12776","gene_name":"Wnt family member 11","omim_gene":["603699"],"alias_name":null,"gene_symbol":"WNT11","hgnc_symbol":"WNT11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:75897369-75921780","ensembl_id":"ENSG00000085741"}},"GRch38":{"90":{"location":"11:76186325-76210736","ensembl_id":"ENSG00000085741"}}},"hgnc_date_symbol_changed":"1998-08-06"},"entity_type":"gene","entity_name":"WNT11","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 40200693"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Laterality defects","complex congenital heart defects","renal defects"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":76,"hash_id":null,"name":"Congenital Heart Defect","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.","status":"public","version":"0.534","version_created":"2026-03-30T13:14:35.719896+11:00","relevant_disorders":["Abnormal heart morphology HP:0001627"],"stats":{"number_of_genes":253,"number_of_strs":1,"number_of_regions":10},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["nm23-H5","RSPH23"],"biotype":"protein_coding","hgnc_id":"HGNC:7853","gene_name":"NME/NM23 family member 5","omim_gene":["603575"],"alias_name":["radial spoke 23 homolog (Chlamydomonas)"],"gene_symbol":"NME5","hgnc_symbol":"NME5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:137450866-137475132","ensembl_id":"ENSG00000112981"}},"GRch38":{"90":{"location":"5:138115172-138139443","ensembl_id":"ENSG00000112981"}}},"hgnc_date_symbol_changed":"1998-02-26"},"entity_type":"gene","entity_name":"NME5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32185794","33635012","37296588","37998386","37957793","41499646"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ciliary dyskinesia, primary, 48, without situs inversus MIM#620032"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":82,"hash_id":null,"name":"Ciliary Dyskinesia","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.75","version_created":"2026-03-30T10:17:46.701193+11:00","relevant_disorders":["Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205"],"stats":{"number_of_genes":77,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"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":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Osteopetrosis, autosomal recessive 7, MIM# 612301"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":115,"hash_id":null,"name":"Hydrocephalus_Ventriculomegaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.","status":"public","version":"0.134","version_created":"2026-01-28T12:49:29.963583+11:00","relevant_disorders":["Hydrocephalus","HP:0000238; Ventriculomegaly","HP:0002119"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CEK2","JTK4","CD333"],"biotype":"protein_coding","hgnc_id":"HGNC:3690","gene_name":"fibroblast growth factor receptor 3","omim_gene":["134934"],"alias_name":null,"gene_symbol":"FGFR3","hgnc_symbol":"FGFR3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:1795034-1810599","ensembl_id":"ENSG00000068078"}},"GRch38":{"90":{"location":"4:1793307-1808872","ensembl_id":"ENSG00000068078"}}},"hgnc_date_symbol_changed":"1991-06-07"},"entity_type":"gene","entity_name":"FGFR3","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":115,"hash_id":null,"name":"Hydrocephalus_Ventriculomegaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.","status":"public","version":"0.134","version_created":"2026-01-28T12:49:29.963583+11:00","relevant_disorders":["Hydrocephalus","HP:0000238; Ventriculomegaly","HP:0002119"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":"","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":["CNC1"],"biotype":"protein_coding","hgnc_id":"HGNC:9388","gene_name":"protein kinase cAMP-dependent type I regulatory subunit alpha","omim_gene":["188830"],"alias_name":["Carney complex type 1"],"gene_symbol":"PRKAR1A","hgnc_symbol":"PRKAR1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:66507921-66547460","ensembl_id":"ENSG00000108946"}},"GRch38":{"90":{"location":"17:68511780-68551319","ensembl_id":"ENSG00000108946"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"PRKAR1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10973256","11115848","12424709","21651393"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Acrodysostosis 1, with or without hormone resistance, MIM# 101800","Carney complex, type 1, MIM# 160980","Myxoma, intracardiac, MIM# 255960","Pigmented nodular adrenocortical disease, primary, 1, MIM# 610489"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["L31"],"biotype":"protein_coding","hgnc_id":"HGNC:10334","gene_name":"ribosomal protein L31","omim_gene":["617415"],"alias_name":null,"gene_symbol":"RPL31","hgnc_symbol":"RPL31","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:101618177-101640494","ensembl_id":"ENSG00000071082"}},"GRch38":{"90":{"location":"2:101001715-101024032","ensembl_id":"ENSG00000071082"}}},"hgnc_date_symbol_changed":"1990-06-11"},"entity_type":"gene","entity_name":"RPL31","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["25042156","25424902"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Diamond Blackfan anaemia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1972"],"biotype":"protein_coding","hgnc_id":"HGNC:29420","gene_name":"ring finger and SPRY domain containing 1","omim_gene":["616585"],"alias_name":null,"gene_symbol":"RSPRY1","hgnc_symbol":"RSPRY1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:57220049-57274387","ensembl_id":"ENSG00000159579"}},"GRch38":{"90":{"location":"16:57186137-57240475","ensembl_id":"ENSG00000159579"}}},"hgnc_date_symbol_changed":"2006-02-17"},"entity_type":"gene","entity_name":"RSPRY1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26365341","30063090","38562122","39940902"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0700","DKFZP434K2235"],"biotype":"protein_coding","hgnc_id":"HGNC:19353","gene_name":"SIN3 transcription regulator family member A","omim_gene":["607776"],"alias_name":null,"gene_symbol":"SIN3A","hgnc_symbol":"SIN3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:75661720-75748183","ensembl_id":"ENSG00000169375"}},"GRch38":{"90":{"location":"15:75369379-75455842","ensembl_id":"ENSG00000169375"}}},"hgnc_date_symbol_changed":"2002-10-09"},"entity_type":"gene","entity_name":"SIN3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27399968"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Witteveen-Kolk syndrome, OMIM # 613406"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["p35nck5a","Nck5a","p35"],"biotype":"protein_coding","hgnc_id":"HGNC:1775","gene_name":"cyclin dependent kinase 5 regulatory subunit 1","omim_gene":["603460"],"alias_name":null,"gene_symbol":"CDK5R1","hgnc_symbol":"CDK5R1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:30813637-30818274","ensembl_id":"ENSG00000176749"}},"GRch38":{"90":{"location":"17:32486619-32491256","ensembl_id":"ENSG00000176749"}}},"hgnc_date_symbol_changed":"1999-03-08"},"entity_type":"gene","entity_name":"CDK5R1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["30733659"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, CDK5R1-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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSPC203"],"biotype":"protein_coding","hgnc_id":"HGNC:20213","gene_name":"COX16, cytochrome c oxidase assembly homolog","omim_gene":null,"alias_name":null,"gene_symbol":"COX16","hgnc_symbol":"COX16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:70791798-70826448","ensembl_id":"ENSG00000133983"}},"GRch38":{"90":{"location":"14:70325081-70359731","ensembl_id":"ENSG00000133983"}}},"hgnc_date_symbol_changed":"2008-06-23"},"entity_type":"gene","entity_name":"COX16","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33169484"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Mitochondrial complex IV deficiency, nuclear type 22, MIM#\t619355","Hypertrophic cardiomyopathy","encephalopathy","severe fatal lactic acidosis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["NR3A2","Erb","ER-beta"],"biotype":"protein_coding","hgnc_id":"HGNC:3468","gene_name":"estrogen receptor 2","omim_gene":["601663"],"alias_name":["ER beta","estrogen receptor beta","oestrogen receptor beta","nuclear receptor subfamily 3 group A member 2"],"gene_symbol":"ESR2","hgnc_symbol":"ESR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:64550950-64804830","ensembl_id":"ENSG00000140009"}},"GRch38":{"90":{"location":"14:64084232-64338112","ensembl_id":"ENSG00000140009"}}},"hgnc_date_symbol_changed":"1997-01-17"},"entity_type":"gene","entity_name":"ESR2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["29261182","9861029","30113650"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["46,XY disorder of sex development","Ovarian dysgenesis 8, MIM# 618187"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KALIG-1","WFDC19"],"biotype":"protein_coding","hgnc_id":"HGNC:6211","gene_name":"anosmin 1","omim_gene":["300836"],"alias_name":["anosmin-1","WAP four-disulfide core domain 19","Adhesion molecule-like, X-linked","Kallmann syndrome interval gene 1"],"gene_symbol":"ANOS1","hgnc_symbol":"ANOS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:8496915-8700227","ensembl_id":"ENSG00000011201"}},"GRch38":{"90":{"location":"X:8528874-8732186","ensembl_id":"ENSG00000011201"}}},"hgnc_date_symbol_changed":"2015-04-10"},"entity_type":"gene","entity_name":"ANOS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["1594017","8504298","8989261"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":"","publications":["34022130"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hengel-Maroofian-Schols syndrome, MIM# 619641"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["COSMC","C1GALT2"],"biotype":"protein_coding","hgnc_id":"HGNC:24338","gene_name":"C1GALT1 specific chaperone 1","omim_gene":["300611"],"alias_name":null,"gene_symbol":"C1GALT1C1","hgnc_symbol":"C1GALT1C1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:119759648-119764005","ensembl_id":"ENSG00000171155"}},"GRch38":{"90":{"location":"X:120625793-120630150","ensembl_id":"ENSG00000171155"}}},"hgnc_date_symbol_changed":"2005-01-26"},"entity_type":"gene","entity_name":"C1GALT1C1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18537974","16251947","36599939"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Tn polyagglutination syndrome, somatic MIM#300622","atypical haemolytic-uremic syndrome MONDO#0016244, C1GALT1C1-related"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["somatic"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":"","publications":["12164927","11889141","29146216"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5028","gene_name":"histamine N-methyltransferase","omim_gene":["605238"],"alias_name":null,"gene_symbol":"HNMT","hgnc_symbol":"HNMT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:138721590-138773930","ensembl_id":"ENSG00000150540"}},"GRch38":{"90":{"location":"2:137964020-138016364","ensembl_id":"ENSG00000150540"}}},"hgnc_date_symbol_changed":"1994-04-18"},"entity_type":"gene","entity_name":"HNMT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26206890","30744146","33310825","33739554"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mental retardation, autosomal recessive 51, MIM#616739"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HT013"],"biotype":"protein_coding","hgnc_id":"HGNC:15865","gene_name":"kizuna centrosomal protein","omim_gene":["615757"],"alias_name":null,"gene_symbol":"KIZ","hgnc_symbol":"KIZ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:21106624-21227260","ensembl_id":"ENSG00000088970"}},"GRch38":{"90":{"location":"20:21125983-21246622","ensembl_id":"ENSG00000088970"}}},"hgnc_date_symbol_changed":"2014-02-17"},"entity_type":"gene","entity_name":"KIZ","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24680887","31556760","29057815"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Retinitis pigmentosa 69, MIM# 615780"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GL004"],"biotype":"protein_coding","hgnc_id":"HGNC:24858","gene_name":"mitochondrial fission factor","omim_gene":["614785"],"alias_name":null,"gene_symbol":"MFF","hgnc_symbol":"MFF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:228189867-228222550","ensembl_id":"ENSG00000168958"}},"GRch38":{"90":{"location":"2:227325151-227357836","ensembl_id":"ENSG00000168958"}}},"hgnc_date_symbol_changed":"2008-05-29"},"entity_type":"gene","entity_name":"MFF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22499341","26783368","32181496"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LH1"],"biotype":"protein_coding","hgnc_id":"HGNC:9081","gene_name":"procollagen-lysine,2-oxoglutarate 5-dioxygenase 1","omim_gene":["153454"],"alias_name":["lysyl hydroxlase 1"],"gene_symbol":"PLOD1","hgnc_symbol":"PLOD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:11994262-12035595","ensembl_id":"ENSG00000083444"}},"GRch38":{"90":{"location":"1:11934205-11975538","ensembl_id":"ENSG00000083444"}}},"hgnc_date_symbol_changed":"2004-12-14"},"entity_type":"gene","entity_name":"PLOD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28306225"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM## 225400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CNA1","PPP2B"],"biotype":"protein_coding","hgnc_id":"HGNC:9314","gene_name":"protein phosphatase 3 catalytic subunit alpha","omim_gene":["114105"],"alias_name":["calcineurin A alpha","protein phosphatase 2B, catalytic subunit, alpha isoform"],"gene_symbol":"PPP3CA","hgnc_symbol":"PPP3CA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:101944566-102269435","ensembl_id":"ENSG00000138814"}},"GRch38":{"90":{"location":"4:101023409-101348278","ensembl_id":"ENSG00000138814"}}},"hgnc_date_symbol_changed":"1990-06-26"},"entity_type":"gene","entity_name":"PPP3CA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29432562","32593294"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Developmental and epileptic encephalopathy 91, MIM#617711","Arthrogryposis, cleft palate, craniosynostosis and impaired intellectual development, MIM#618265"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["bHLHa47"],"biotype":"protein_coding","hgnc_id":"HGNC:33169","gene_name":"achaete-scute family bHLH transcription factor 5","omim_gene":null,"alias_name":null,"gene_symbol":"ASCL5","hgnc_symbol":"ASCL5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:201083081-201096312","ensembl_id":"ENSG00000232237"}},"GRch38":{"90":{"location":"1:201113953-201127184","ensembl_id":"ENSG00000232237"}}},"hgnc_date_symbol_changed":"2006-11-08"},"entity_type":"gene","entity_name":"ASCL5","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["41673016"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Tooth disorder, MONDO:0006999, ASCL5-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["founder"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["eIF3-epsilon","eIF3-p47","eIF3f"],"biotype":"protein_coding","hgnc_id":"HGNC:3275","gene_name":"eukaryotic translation initiation factor 3 subunit F","omim_gene":["603914"],"alias_name":null,"gene_symbol":"EIF3F","hgnc_symbol":"EIF3F","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:7991798-8023409","ensembl_id":"ENSG00000175390"}},"GRch38":{"90":{"location":"11:7970251-8001862","ensembl_id":"ENSG00000175390"}}},"hgnc_date_symbol_changed":"2007-07-27"},"entity_type":"gene","entity_name":"EIF3F","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30409806","33736665"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mental retardation, autosomal recessive 67, MIM#\t618295"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ20452"],"biotype":"protein_coding","hgnc_id":"HGNC:26027","gene_name":"COMM domain containing 4","omim_gene":["616701"],"alias_name":null,"gene_symbol":"COMMD4","hgnc_symbol":"COMMD4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:75628232-75634268","ensembl_id":"ENSG00000140365"}},"GRch38":{"90":{"location":"15:75335891-75343224","ensembl_id":"ENSG00000140365"}}},"hgnc_date_symbol_changed":"2004-02-13"},"entity_type":"gene","entity_name":"COMMD4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40601774"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Ritscher-Schinzel syndrome, MONDO:0019078, COMMD4-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0763","GEP100","BRAG2","ARF-GEP100"],"biotype":"protein_coding","hgnc_id":"HGNC:29112","gene_name":"IQ motif and Sec7 domain 1","omim_gene":["610166"],"alias_name":["brefeldin A-resistant ARF-GEF2"],"gene_symbol":"IQSEC1","hgnc_symbol":"IQSEC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:12938719-13114617","ensembl_id":"ENSG00000144711"}},"GRch38":{"90":{"location":"3:12897220-13073117","ensembl_id":"ENSG00000144711"}}},"hgnc_date_symbol_changed":"2004-08-27"},"entity_type":"gene","entity_name":"IQSEC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31607425"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder with short stature and behavioral abnormalities, MIM#\t618687"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["WSX-1","TCCR","CRL1","WSX1","zcytor1","IL-27R"],"biotype":"protein_coding","hgnc_id":"HGNC:17290","gene_name":"interleukin 27 receptor subunit alpha","omim_gene":["605350"],"alias_name":["T-cell cytokine receptor type 1"],"gene_symbol":"IL27RA","hgnc_symbol":"IL27RA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:14142560-14163743","ensembl_id":"ENSG00000104998"}},"GRch38":{"90":{"location":"19:14031748-14053216","ensembl_id":"ENSG00000104998"}}},"hgnc_date_symbol_changed":"2004-02-10"},"entity_type":"gene","entity_name":"IL27RA","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["38509369"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Immunodeficiency 134 (Epstein-Barr virus-specific), MIM# 621405"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0156","RP11-13G14","TIP110","p110"],"biotype":"protein_coding","hgnc_id":"HGNC:16860","gene_name":"squamous cell carcinoma antigen recognized by T-cells 3","omim_gene":["611684"],"alias_name":["HIV-1 Tat-interacting protein of 110kDa"],"gene_symbol":"SART3","hgnc_symbol":"SART3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:108916357-108955176","ensembl_id":"ENSG00000075856"}},"GRch38":{"90":{"location":"12:108522580-108561400","ensembl_id":"ENSG00000075856"}}},"hgnc_date_symbol_changed":"2001-12-17"},"entity_type":"gene","entity_name":"SART3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37296101"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Neurodevelopmental disorder (MONDO#0700092), SART3-related","46,XY disorder of sex development (MONDO:0020040), SART3-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0985","rabphilin","exophilin-1"],"biotype":"protein_coding","hgnc_id":"HGNC:17056","gene_name":"rabphilin 3A","omim_gene":["612159"],"alias_name":null,"gene_symbol":"RPH3A","hgnc_symbol":"RPH3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:113008184-113336686","ensembl_id":"ENSG00000089169"}},"GRch38":{"90":{"location":"12:112570380-112898881","ensembl_id":"ENSG00000089169"}}},"hgnc_date_symbol_changed":"2003-12-10"},"entity_type":"gene","entity_name":"RPH3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37403762","29441694"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO#0700092), RPH3A-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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HDCMC04P"],"biotype":"protein_coding","hgnc_id":"HGNC:18541","gene_name":"lysine methyltransferase 2E","omim_gene":["608444"],"alias_name":null,"gene_symbol":"KMT2E","hgnc_symbol":"KMT2E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:104654626-104754808","ensembl_id":"ENSG00000005483"}},"GRch38":{"90":{"location":"7:105014179-105114361","ensembl_id":"ENSG00000005483"}}},"hgnc_date_symbol_changed":"2013-05-09"},"entity_type":"gene","entity_name":"KMT2E","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["PMID: 31079897","33111303"],"evidence":["Expert Review Green","Literature"],"phenotypes":["O'Donnell-Luria-Rodan syndrome MIM#618512"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HLJ1"],"biotype":"protein_coding","hgnc_id":"HGNC:14886","gene_name":"DnaJ heat shock protein family (Hsp40) member B4","omim_gene":["611327"],"alias_name":null,"gene_symbol":"DNAJB4","hgnc_symbol":"DNAJB4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:78444859-78483648","ensembl_id":"ENSG00000162616"}},"GRch38":{"90":{"location":"1:77979175-78017964","ensembl_id":"ENSG00000162616"}}},"hgnc_date_symbol_changed":"2001-03-09"},"entity_type":"gene","entity_name":"DNAJB4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36264506"],"evidence":["Expert Review Green","Other","Expert Review Green","Literature"],"phenotypes":["Congenital Myopathy 21 with early respiratory failure  (MIM#620326","MONDO:005336)"],"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":null},{"gene_data":{"alias":["PCLP","Gp200","PC"],"biotype":"protein_coding","hgnc_id":"HGNC:9171","gene_name":"podocalyxin like","omim_gene":["602632"],"alias_name":null,"gene_symbol":"PODXL","hgnc_symbol":"PODXL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:131185021-131242976","ensembl_id":"ENSG00000128567"}},"GRch38":{"90":{"location":"7:131500262-131558217","ensembl_id":"ENSG00000128567"}}},"hgnc_date_symbol_changed":"1997-07-11"},"entity_type":"gene","entity_name":"PODXL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 30523047, 29244787, 28117080, 24048372"],"evidence":["Expert Review Green","Expert Review Green","Literature","Victorian Clinical Genetics Services"],"phenotypes":["Nephrotic syndrome"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":144,"hash_id":null,"name":"Proteinuria","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"To be used in individuals with suspected nephrotic syndrome and related conditions, part of the Renal Glomerular Disease Superpanel.\r\n\r\n09/01/2020: This panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.","status":"public","version":"0.239","version_created":"2026-03-12T18:51:41.043263+11:00","relevant_disorders":["Proteinuria HP:0000093"],"stats":{"number_of_genes":88,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ATPIH","ATPIS","KIAA1021"],"biotype":"protein_coding","hgnc_id":"HGNC:13552","gene_name":"ATPase phospholipid transporting 11A","omim_gene":["605868"],"alias_name":["potential phospholipid-transporting ATPase IH","phospholipid-translocating ATPase"],"gene_symbol":"ATP11A","hgnc_symbol":"ATP11A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:113344643-113541482","ensembl_id":"ENSG00000068650"}},"GRch38":{"90":{"location":"13:112690329-112887168","ensembl_id":"ENSG00000068650"}}},"hgnc_date_symbol_changed":"2000-09-25"},"entity_type":"gene","entity_name":"ATP11A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34403372","39432785","40185629"],"evidence":["Expert Review Green","Other"],"phenotypes":["Focal epilepsy MONDO:0005384, ATP11A","Leukodystrophy, hypomyelinating, 24 MIM#619851"],"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":["HSPC125","bA22L21.1","My013","HRPAP20"],"biotype":"protein_coding","hgnc_id":"HGNC:21034","gene_name":"NADH:ubiquinone oxidoreductase complex assembly factor 4","omim_gene":["611776"],"alias_name":null,"gene_symbol":"NDUFAF4","hgnc_symbol":"NDUFAF4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:97337189-97345757","ensembl_id":"ENSG00000123545"}},"GRch38":{"90":{"location":"6:96889313-96897881","ensembl_id":"ENSG00000123545"}}},"hgnc_date_symbol_changed":"2009-03-18"},"entity_type":"gene","entity_name":"NDUFAF4","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["28853723","19463981"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Mitochondrial complex I deficiency, MIM#252010"],"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":["SCO-spondin","KIAA0543","FLJ36112"],"biotype":"protein_coding","hgnc_id":"HGNC:21998","gene_name":"SCO-spondin","omim_gene":["617356"],"alias_name":["subcommissural organ spondin","SCO protein, thrombospondin domain containing"],"gene_symbol":"SSPO","hgnc_symbol":"SSPO","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:149473131-149531068","ensembl_id":"ENSG00000197558"}},"GRch38":{"90":{"location":"7:149776042-149833979","ensembl_id":"ENSG00000197558"}}},"hgnc_date_symbol_changed":"2005-11-25"},"entity_type":"gene","entity_name":"SSPO","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 41077560"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, SSPOP-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"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":["SCA31"],"biotype":"protein_coding","hgnc_id":"HGNC:11831","gene_name":"thymidine kinase 2, mitochondrial","omim_gene":["188250"],"alias_name":null,"gene_symbol":"TK2","hgnc_symbol":"TK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:66541906-66586447","ensembl_id":"ENSG00000166548"}},"GRch38":{"90":{"location":"16:66508003-66552544","ensembl_id":"ENSG00000166548"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"TK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11687801","12391347","12873860","35286480","35280287","35094997"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560","Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069"],"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":["CX26","NSRD1"],"biotype":"protein_coding","hgnc_id":"HGNC:4284","gene_name":"gap junction protein beta 2","omim_gene":["121011"],"alias_name":["connexin 26"],"gene_symbol":"GJB2","hgnc_symbol":"GJB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:20761609-20767037","ensembl_id":"ENSG00000165474"}},"GRch38":{"90":{"location":"13:20187470-20192898","ensembl_id":"ENSG00000165474"}}},"hgnc_date_symbol_changed":"1990-02-12"},"entity_type":"gene","entity_name":"GJB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9529365","14985372","19941053","11354642"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Bart-Pumphrey syndrome, MIM#149200","Deafness, autosomal dominant 3A, MIM#601544","Deafness, autosomal recessive 1A, MIM#220290","Hystrix-like ichthyosis with deafness, MIM#602540","Keratitis-ichthyosis-deafness syndrome, MIM#148210","Keratoderma, palmoplantar, with deafness, MIM#148350","Vohwinkel syndrome, MIM# 124500"],"mode_of_inheritance":"BOTH monoallelic and 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":["CX40"],"biotype":null,"hgnc_id":"HGNC:4279","gene_name":"gap junction protein alpha 5","omim_gene":["121013"],"alias_name":["connexin 40"],"gene_symbol":"GJA5","hgnc_symbol":"GJA5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:147228332-147245484","ensembl_id":"ENSG00000143140"}},"GRch38":{"90":{"location":"1:147756199-147773362","ensembl_id":"ENSG00000265107"}}},"hgnc_date_symbol_changed":"1991-07-11"},"entity_type":"gene","entity_name":"GJA5","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["16790700","20818502","20650941","23348765"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Atrial fibrillation, familial, 11, OMIM# 614049"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":210,"hash_id":null,"name":"Atrial Fibrillation","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"1.8","version_created":"2026-04-08T12:33:56.834813+10:00","relevant_disorders":["Atrial fibrillation","HP:0005110"],"stats":{"number_of_genes":8,"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":["HLP","DDX13","SKI2W","170A","SKIV2L1"],"biotype":"protein_coding","hgnc_id":"HGNC:10898","gene_name":"Ski2 like RNA helicase","omim_gene":["600478"],"alias_name":null,"gene_symbol":"SKIV2L","hgnc_symbol":"SKIV2L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31926857-31937532","ensembl_id":"ENSG00000204351"}},"GRch38":{"90":{"location":"6:31959080-31969755","ensembl_id":"ENSG00000204351"}}},"hgnc_date_symbol_changed":"1995-07-06"},"entity_type":"gene","entity_name":"SKIV2L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["22444670"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Trichohepatoenteric syndrome 2, MIM#\t614602","Respiratory infections","IUGR","Facial dysmorphic features","Wooly hair","Early-onset intractable diarrhoea","Liver cirrhosis","Platelet abnormalities"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.145","version_created":"2026-03-02T21:55:19.238904+11:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"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:11491","gene_name":"spleen associated tyrosine kinase","omim_gene":["600085"],"alias_name":null,"gene_symbol":"SYK","hgnc_symbol":"SYK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:93564069-93660831","ensembl_id":"ENSG00000165025"}},"GRch38":{"90":{"location":"9:90801787-90898549","ensembl_id":"ENSG00000165025"}}},"hgnc_date_symbol_changed":"1994-12-13"},"entity_type":"gene","entity_name":"SYK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["33782605"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.43","version_created":"2026-04-06T13:01:39.255117+10:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":118,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4982","gene_name":"hydroxymethylbilane synthase","omim_gene":["609806"],"alias_name":null,"gene_symbol":"HMBS","hgnc_symbol":"HMBS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118955576-118964259","ensembl_id":"ENSG00000256269"}},"GRch38":{"90":{"location":"11:119084866-119093549","ensembl_id":"ENSG00000256269"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"HMBS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["15534187","34089223"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Encephalopathy, porphyria-related\tMIM#620704","Leukoencephalopathy, porphyria-related, MIM#620711"],"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":["FLJ12525"],"biotype":"protein_coding","hgnc_id":"HGNC:25726","gene_name":"LAS1 like, ribosome biogenesis factor","omim_gene":["300964"],"alias_name":null,"gene_symbol":"LAS1L","hgnc_symbol":"LAS1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:64732462-64754655","ensembl_id":"ENSG00000001497"}},"GRch38":{"90":{"location":"X:65512582-65534775","ensembl_id":"ENSG00000001497"}}},"hgnc_date_symbol_changed":"2005-01-26"},"entity_type":"gene","entity_name":"LAS1L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25644381","26358559","34653234"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Wilson-Turner syndrome, MIM# 309585"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:19261","gene_name":"mitochondrial tRNA translation optimization 1","omim_gene":["614667"],"alias_name":null,"gene_symbol":"MTO1","hgnc_symbol":"MTO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:74171301-74218959","ensembl_id":"ENSG00000135297"}},"GRch38":{"90":{"location":"6:73461578-73509236","ensembl_id":"ENSG00000135297"}}},"hgnc_date_symbol_changed":"2003-05-21"},"entity_type":"gene","entity_name":"MTO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["PMID: 26061759","29331171","23929671"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Combined oxidative phosphorylation deficiency 10","OMIM #614702"],"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":["TPT","COQ1"],"biotype":"protein_coding","hgnc_id":"HGNC:17759","gene_name":"decaprenyl diphosphate synthase subunit 1","omim_gene":["607429"],"alias_name":["coenzyme Q1 homolog (yeast)"],"gene_symbol":"PDSS1","hgnc_symbol":"PDSS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:26986588-27035727","ensembl_id":"ENSG00000148459"}},"GRch38":{"90":{"location":"10:26697659-26746798","ensembl_id":"ENSG00000148459"}}},"hgnc_date_symbol_changed":"2006-02-14"},"entity_type":"gene","entity_name":"PDSS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17332895","22494076","33285023"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Coenzyme Q10 deficiency, primary, 2 MIM#614651"],"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":["BIGM103"],"biotype":"protein_coding","hgnc_id":"HGNC:20862","gene_name":"solute carrier family 39 member 8","omim_gene":["608732"],"alias_name":null,"gene_symbol":"SLC39A8","hgnc_symbol":"SLC39A8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:103172198-103352415","ensembl_id":"ENSG00000138821"}},"GRch38":{"90":{"location":"4:102251041-102431258","ensembl_id":"ENSG00000138821"}}},"hgnc_date_symbol_changed":"2003-10-08"},"entity_type":"gene","entity_name":"SLC39A8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26637978","26637979"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Congenital disorder of glycosylation, type IIn , MIM#616721"],"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":["DKFZP434L1435","KIAA1885","G7a"],"biotype":"protein_coding","hgnc_id":"HGNC:21642","gene_name":"valyl-tRNA synthetase 2, mitochondrial","omim_gene":["612802"],"alias_name":["valine tRNA ligase 2, mitochondrial"],"gene_symbol":"VARS2","hgnc_symbol":"VARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:30876019-30894236","ensembl_id":"ENSG00000137411"}},"GRch38":{"90":{"location":"6:30908242-30926459","ensembl_id":"ENSG00000137411"}}},"hgnc_date_symbol_changed":"2007-02-23"},"entity_type":"gene","entity_name":"VARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["PubMed: 24827421","25058219","29137650","29314548","31064326"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Combined oxidative phosphorylation deficiency 20","OMIM #615917"],"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":["ZCW3","KIAA0852","AC004542.C22.1"],"biotype":"protein_coding","hgnc_id":"HGNC:23573","gene_name":"MORC family CW-type zinc finger 2","omim_gene":["616661"],"alias_name":null,"gene_symbol":"MORC2","hgnc_symbol":"MORC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:31321117-31364284","ensembl_id":"ENSG00000133422"}},"GRch38":{"90":{"location":"22:30925130-30968298","ensembl_id":"ENSG00000133422"}}},"hgnc_date_symbol_changed":"2005-06-15"},"entity_type":"gene","entity_name":"MORC2","confidence_level":"3","penetrance":"unknown","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":["32693025"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM#\t619090","Intellectual disability"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MARLIN1","JAMIP1","Gababrbp","FLJ31564"],"biotype":"protein_coding","hgnc_id":"HGNC:26460","gene_name":"janus kinase and microtubule interacting protein 1","omim_gene":["611195"],"alias_name":null,"gene_symbol":"JAKMIP1","hgnc_symbol":"JAKMIP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:6027926-6202318","ensembl_id":"ENSG00000152969"}},"GRch38":{"90":{"location":"4:6026199-6200591","ensembl_id":"ENSG00000152969"}}},"hgnc_date_symbol_changed":"2006-02-23"},"entity_type":"gene","entity_name":"JAKMIP1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["29158550","26627310","27799067"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO#0700092), JAKMIP1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:1795","gene_name":"cysteine dioxygenase type 1","omim_gene":["603943"],"alias_name":null,"gene_symbol":"CDO1","hgnc_symbol":"CDO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:115140430-115152651","ensembl_id":"ENSG00000129596"}},"GRch38":{"90":{"location":"5:115804733-115816954","ensembl_id":"ENSG00000129596"}}},"hgnc_date_symbol_changed":"1996-09-13"},"entity_type":"gene","entity_name":"CDO1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["39949058"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Syndromic disease, MONDO:0002254, CDO1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ20753","KIAA1640","FLJ32021","CILD15","FAP172"],"biotype":"protein_coding","hgnc_id":"HGNC:26090","gene_name":"coiled-coil domain containing 40","omim_gene":["613799"],"alias_name":null,"gene_symbol":"CCDC40","hgnc_symbol":"CCDC40","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:78010435-78074412","ensembl_id":"ENSG00000141519"}},"GRch38":{"90":{"location":"17:80036632-80100613","ensembl_id":"ENSG00000141519"}}},"hgnc_date_symbol_changed":"2005-12-13"},"entity_type":"gene","entity_name":"CCDC40","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","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":["PDIA1","PROHB","DSI","GIT","PDI","PO4HB","P4Hbeta"],"biotype":"protein_coding","hgnc_id":"HGNC:8548","gene_name":"prolyl 4-hydroxylase subunit beta","omim_gene":["176790"],"alias_name":["protein disulfide isomerase-associated 1","protein disulfide isomerase family A, member 1","collagen prolyl 4-hydroxylase beta"],"gene_symbol":"P4HB","hgnc_symbol":"P4HB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:79801035-79818570","ensembl_id":"ENSG00000185624"}},"GRch38":{"90":{"location":"17:81843159-81860694","ensembl_id":"ENSG00000185624"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"P4HB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["25683117","29384951","30063094"],"evidence":["Expert Review Green","Expert Review Green","Expert Review","NHS GMS","Victorian Clinical Genetics Services"],"phenotypes":["Cole-Carpenter syndrome 1\t112240","Cole-Carpenter syndrome 1 112240"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CORL2","FUSSEL18","Fussel-18"],"biotype":"protein_coding","hgnc_id":"HGNC:32695","gene_name":"SKI family transcriptional corepressor 2","omim_gene":["617138"],"alias_name":["functional smad suppressing element 18"],"gene_symbol":"SKOR2","hgnc_symbol":"SKOR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:44746293-44775554","ensembl_id":"ENSG00000215474"}},"GRch38":{"90":{"location":"18:47206322-47251603","ensembl_id":"ENSG00000215474"}}},"hgnc_date_symbol_changed":"2010-06-23"},"entity_type":"gene","entity_name":"SKOR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40890458","29997391","21937600"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Valence-Farazi cerebellar ataxia syndrome, MIM# 621386"],"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":[]},{"gene_data":{"alias":["FMT1"],"biotype":"protein_coding","hgnc_id":"HGNC:29666","gene_name":"mitochondrial methionyl-tRNA formyltransferase","omim_gene":["611766"],"alias_name":null,"gene_symbol":"MTFMT","hgnc_symbol":"MTFMT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:65294845-65321977","ensembl_id":"ENSG00000103707"}},"GRch38":{"90":{"location":"15:65001512-65029639","ensembl_id":"ENSG00000103707"}}},"hgnc_date_symbol_changed":"2005-08-09"},"entity_type":"gene","entity_name":"MTFMT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Combined oxidative phosphorylation deficiency 15","22499348","23499752","614947"],"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":["KIAA0905","ABP125","ABP130"],"biotype":"protein_coding","hgnc_id":"HGNC:17052","gene_name":"SEC31 homolog A, COPII coat complex component","omim_gene":["610257"],"alias_name":null,"gene_symbol":"SEC31A","hgnc_symbol":"SEC31A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:83739814-83822319","ensembl_id":"ENSG00000138674"}},"GRch38":{"90":{"location":"4:82818661-82901166","ensembl_id":"ENSG00000138674"}}},"hgnc_date_symbol_changed":"2006-09-07"},"entity_type":"gene","entity_name":"SEC31A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30464055","40508110","39725565"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM#\t618651","congenital neurodevelopmental syndrome","spastic paraplegia","multiple contractures","profound developmental delay","epilepsy","failure to thrive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0720","Syx","GEF720","Tech"],"biotype":"protein_coding","hgnc_id":"HGNC:29105","gene_name":"pleckstrin homology and RhoGEF domain containing G5","omim_gene":["611101"],"alias_name":["synectin-binding guanine exchange factor"],"gene_symbol":"PLEKHG5","hgnc_symbol":"PLEKHG5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:6526152-6580121","ensembl_id":"ENSG00000171680"}},"GRch38":{"90":{"location":"1:6466092-6520061","ensembl_id":"ENSG00000171680"}}},"hgnc_date_symbol_changed":"2005-08-09"},"entity_type":"gene","entity_name":"PLEKHG5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17564964","23777631","23844677","33492783","33275839","33220101","23777631"],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green"],"phenotypes":["hereditary peripheral neuropathy MONDO:0020127, PLEKHG5-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GPT","D11S366","DGPT","ALG7","CDG-Ij"],"biotype":"protein_coding","hgnc_id":"HGNC:2995","gene_name":"dolichyl-phosphate N-acetylglucosaminephosphotransferase 1","omim_gene":["191350"],"alias_name":["GlcNAc-1-P transferase 1","UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1"],"gene_symbol":"DPAGT1","hgnc_symbol":"DPAGT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118967213-118979041","ensembl_id":"ENSG00000172269"}},"GRch38":{"90":{"location":"11:119096503-119108331","ensembl_id":"ENSG00000172269"}}},"hgnc_date_symbol_changed":"1993-12-13"},"entity_type":"gene","entity_name":"DPAGT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22742743","29356258","28712839","28662078"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750","Limb girdle congenital myasthenic","Congenital disorder of glycosylation, type Ij, 608093"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3078,"hash_id":null,"name":"Congenital Myasthenia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the Congenital Myasthenia panels developed by the Royal Melbourne Hospital and by the Victorian Clinical Genetics Services.\r\n\r\nThis panel has been compared against the Genomics England 'Congenital myasthenic syndrome' panel V2.2, with all discrepancies resolved and reciprocal provided to Genomics England.","status":"public","version":"1.20","version_created":"2026-01-02T17:01:50.322172+11:00","relevant_disorders":["Fatiguable weakness HP:0003473;Hypotonia HP:0001252"],"stats":{"number_of_genes":37,"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":["ARA267","FLJ22263","KMT3B"],"biotype":"protein_coding","hgnc_id":"HGNC:14234","gene_name":"nuclear receptor binding SET domain protein 1","omim_gene":["606681"],"alias_name":null,"gene_symbol":"NSD1","hgnc_symbol":"NSD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:176560026-176727216","ensembl_id":"ENSG00000165671"}},"GRch38":{"90":{"location":"5:177133025-177300215","ensembl_id":"ENSG00000165671"}}},"hgnc_date_symbol_changed":"2002-02-25"},"entity_type":"gene","entity_name":"NSD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26738611","9781911"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Sotos syndrome 1 117550"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3098,"hash_id":null,"name":"Lymphoedema","disease_group":"Cardiovascular disorders","disease_sub_group":"Lymphatic Disorders","description":"The panel contains genes associated with nonsyndromic and syndromic lymphoedema.","status":"public","version":"0.32","version_created":"2026-02-06T22:04:55.315713+11:00","relevant_disorders":["Lymphedema","HP:0001004"],"stats":{"number_of_genes":59,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HL","HTGL"],"biotype":"protein_coding","hgnc_id":"HGNC:6619","gene_name":"lipase C, hepatic type","omim_gene":["151670"],"alias_name":["Triacylglycerol lipase"],"gene_symbol":"LIPC","hgnc_symbol":"LIPC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:58702768-58861151","ensembl_id":"ENSG00000166035"}},"GRch38":{"90":{"location":"15:58410569-58569843","ensembl_id":"ENSG00000166035"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"LIPC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hepatic lipase deficiency, 614025 (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":["HE1","NP-C2","EDDM1"],"biotype":"protein_coding","hgnc_id":"HGNC:14537","gene_name":"NPC intracellular cholesterol transporter 2","omim_gene":["601015"],"alias_name":["epididymal protein 1"],"gene_symbol":"NPC2","hgnc_symbol":"NPC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:74942895-74960880","ensembl_id":"ENSG00000119655"}},"GRch38":{"90":{"location":"14:74476192-74494177","ensembl_id":"ENSG00000119655"}}},"hgnc_date_symbol_changed":"2001-05-11"},"entity_type":"gene","entity_name":"NPC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Niemann-pick disease, type C2, 607625 (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":["GCP6","KIAA1669","DJ402G11.6"],"biotype":"protein_coding","hgnc_id":"HGNC:18127","gene_name":"tubulin gamma complex associated protein 6","omim_gene":["610053"],"alias_name":["gamma-tubulin complex component 6"],"gene_symbol":"TUBGCP6","hgnc_symbol":"TUBGCP6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:50656118-50683421","ensembl_id":"ENSG00000128159"}},"GRch38":{"90":{"location":"22:50217689-50244992","ensembl_id":"ENSG00000128159"}}},"hgnc_date_symbol_changed":"2002-08-14"},"entity_type":"gene","entity_name":"TUBGCP6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (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":["CORDX1"],"biotype":"protein_coding","hgnc_id":"HGNC:10295","gene_name":"retinitis pigmentosa GTPase regulator","omim_gene":["312610"],"alias_name":null,"gene_symbol":"RPGR","hgnc_symbol":"RPGR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:38128416-38186817","ensembl_id":"ENSG00000156313"}},"GRch38":{"90":{"location":"X:38269163-38327564","ensembl_id":"ENSG00000156313"}}},"hgnc_date_symbol_changed":"1999-04-29"},"entity_type":"gene","entity_name":"RPGR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Macular degeneration, X-linked atrophic, 300834 (3)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6416","gene_name":"keratin 14","omim_gene":["148066"],"alias_name":["epidermolysis bullosa simplex, Dowling-Meara, Koebner"],"gene_symbol":"KRT14","hgnc_symbol":"KRT14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:39738531-39743173","ensembl_id":"ENSG00000186847"}},"GRch38":{"90":{"location":"17:41582279-41586921","ensembl_id":"ENSG00000186847"}}},"hgnc_date_symbol_changed":"1992-04-09"},"entity_type":"gene","entity_name":"KRT14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Epidermolysis bullosa simplex, recessive 1, 601001 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ14490"],"biotype":"protein_coding","hgnc_id":"HGNC:25897","gene_name":"major facilitator superfamily domain containing 2A","omim_gene":["614397"],"alias_name":null,"gene_symbol":"MFSD2A","hgnc_symbol":"MFSD2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:40420802-40435638","ensembl_id":"ENSG00000168389"}},"GRch38":{"90":{"location":"1:39955112-39969968","ensembl_id":"ENSG00000168389"}}},"hgnc_date_symbol_changed":"2009-09-08"},"entity_type":"gene","entity_name":"MFSD2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Microcephaly 15, primary, autosomal recessive, 616486 (3), Autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FBLN4","UPH1"],"biotype":"protein_coding","hgnc_id":"HGNC:3219","gene_name":"EGF containing fibulin extracellular matrix protein 2","omim_gene":["604633"],"alias_name":["fibulin 4"],"gene_symbol":"EFEMP2","hgnc_symbol":"EFEMP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65633912-65641063","ensembl_id":"ENSG00000172638"}},"GRch38":{"90":{"location":"11:65866441-65873592","ensembl_id":"ENSG00000172638"}}},"hgnc_date_symbol_changed":"2000-03-01"},"entity_type":"gene","entity_name":"EFEMP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Cutis laxa, autosomal recessive, type IB, 614437 (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":["UNC104"],"biotype":"protein_coding","hgnc_id":"HGNC:888","gene_name":"kinesin family member 1A","omim_gene":["601255"],"alias_name":null,"gene_symbol":"KIF1A","hgnc_symbol":"KIF1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:241653181-241759725","ensembl_id":"ENSG00000130294"}},"GRch38":{"90":{"location":"2:240713764-240820308","ensembl_id":"ENSG00000130294"}}},"hgnc_date_symbol_changed":"2004-01-14"},"entity_type":"gene","entity_name":"KIF1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Spastic paraplegia 30, autosomal recessive, 610357 (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":["ARA267","FLJ22263","KMT3B"],"biotype":"protein_coding","hgnc_id":"HGNC:14234","gene_name":"nuclear receptor binding SET domain protein 1","omim_gene":["606681"],"alias_name":null,"gene_symbol":"NSD1","hgnc_symbol":"NSD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:176560026-176727216","ensembl_id":"ENSG00000165671"}},"GRch38":{"90":{"location":"5:177133025-177300215","ensembl_id":"ENSG00000165671"}}},"hgnc_date_symbol_changed":"2002-02-25"},"entity_type":"gene","entity_name":"NSD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Sotos syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RPL10","RPLY10","RPYL10","EC45","L15"],"biotype":"protein_coding","hgnc_id":"HGNC:10306","gene_name":"ribosomal protein L15","omim_gene":["604174"],"alias_name":null,"gene_symbol":"RPL15","hgnc_symbol":"RPL15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:23958036-23965183","ensembl_id":"ENSG00000174748"}},"GRch38":{"90":{"location":"3:23916545-23923692","ensembl_id":"ENSG00000174748"}}},"hgnc_date_symbol_changed":"1998-07-23"},"entity_type":"gene","entity_name":"RPL15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23812780","29599205"],"evidence":["Expert Review Green","Yorkshire and North East GLH","NHS GMS","Wessex and West Midlands GLH","North West GLH","London South GLH","Victorian Clinical Genetics Services"],"phenotypes":["Diamond-Blackfan anaemia 12, MIM# 615550"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3366,"hash_id":null,"name":"Red cell disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.","status":"public","version":"1.52","version_created":"2026-03-28T15:18:36.006857+11:00","relevant_disorders":["Abnormal erythrocyte morphology","HP:0001877"],"stats":{"number_of_genes":116,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp686J0811"],"biotype":"protein_coding","hgnc_id":"HGNC:25396","gene_name":"FRAS1 related extracellular matrix protein 2","omim_gene":["608945"],"alias_name":null,"gene_symbol":"FREM2","hgnc_symbol":"FREM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:39261266-39460074","ensembl_id":"ENSG00000150893"}},"GRch38":{"90":{"location":"13:38687129-38887131","ensembl_id":"ENSG00000150893"}}},"hgnc_date_symbol_changed":"2004-12-15"},"entity_type":"gene","entity_name":"FREM2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["15838507","16894541","18671281","18203166"],"evidence":["Radboud University Medical Center, Nijmegen","Expert Review Red","Illumina TruGenome Clinical Sequencing Services","Expert list"],"phenotypes":["Fraser syndrome, 219000"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CSX1","NKX2.5","NKX4-1"],"biotype":"protein_coding","hgnc_id":"HGNC:2488","gene_name":"NK2 homeobox 5","omim_gene":["600584"],"alias_name":["tinman paralog (Drosophila)"],"gene_symbol":"NKX2-5","hgnc_symbol":"NKX2-5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:172659112-172662360","ensembl_id":"ENSG00000183072"}},"GRch38":{"90":{"location":"5:173232109-173235357","ensembl_id":"ENSG00000183072"}}},"hgnc_date_symbol_changed":"2002-10-04"},"entity_type":"gene","entity_name":"NKX2-5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22155005"],"evidence":["Expert Review Red"],"phenotypes":["CTHM","CONOTRUNCAL HEART MALFORMATIONS"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ23403","FLJ23144","HsT748","HsT771","FLJ34907"],"biotype":"protein_coding","hgnc_id":"HGNC:26270","gene_name":"piezo type mechanosensitive ion channel component 2","omim_gene":["613629"],"alias_name":null,"gene_symbol":"PIEZO2","hgnc_symbol":"PIEZO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:10666480-11148587","ensembl_id":"ENSG00000154864"}},"GRch38":{"90":{"location":"18:10666483-11148762","ensembl_id":"ENSG00000154864"}}},"hgnc_date_symbol_changed":"2011-08-31"},"entity_type":"gene","entity_name":"PIEZO2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Arthrogryposis, distal, type 5, MIM#\t108145","Arthrogryposis, distal, type 3, MIM#\t114300"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3379,"hash_id":null,"name":"Congenital ophthalmoplegia","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with congenital ophthalmoplegia including those associated with congenital fibrosis of the extra-ocular muscles (CFEOM), Duane anomaly, Moebius syndrome, and gaze palsies.\r\n\r\nIn addition, it includes genes associated with conditions where ophthalmoplegia can occur in infancy/early childhood as a common/prominent feature of a more complex syndromic, metabolic or neuromuscular condition.","status":"public","version":"1.14","version_created":"2025-12-14T20:52:23.588623+11:00","relevant_disorders":["Abnormality of eye movement","HP:0000496"],"stats":{"number_of_genes":55,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["V2R"],"biotype":"protein_coding","hgnc_id":"HGNC:897","gene_name":"arginine vasopressin receptor 2","omim_gene":["300538"],"alias_name":["nephrogenic diabetes insipidus"],"gene_symbol":"AVPR2","hgnc_symbol":"AVPR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153167985-153172620","ensembl_id":"ENSG00000126895"}},"GRch38":{"90":{"location":"X:153902531-153907166","ensembl_id":"ENSG00000126895"}}},"hgnc_date_symbol_changed":"1992-02-28"},"entity_type":"gene","entity_name":"AVPR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["1356229","20301356","27156763"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Diabetes insipidus, nephrogenic MIM#304800"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["SV/CNV","treatable","clinical trial"],"panel":{"id":3445,"hash_id":null,"name":"Diabetes Insipidus","disease_group":"Endocrine disorders; Renal and urinary tract disorders","disease_sub_group":"","description":"This gene panel contains genetic causes of diabetes insipidus, and was developed by the RMH Endocrine Genetics clinic.","status":"public","version":"1.4","version_created":"2026-02-05T10:57:25.989161+11:00","relevant_disorders":["Polydipsia","HP:0001959; Polyuria","HP:0000103"],"stats":{"number_of_genes":3,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4118","gene_name":"galactokinase 1","omim_gene":["604313"],"alias_name":null,"gene_symbol":"GALK1","hgnc_symbol":"GALK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:73747675-73761792","ensembl_id":"ENSG00000108479"}},"GRch38":{"90":{"location":"17:75751594-75765711","ensembl_id":"ENSG00000108479"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GALK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27604308","5129682"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Galactokinase deficiency with cataracts MIM#230200","Disorders of galactose metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GK1","GKD"],"biotype":"protein_coding","hgnc_id":"HGNC:4289","gene_name":"glycerol kinase","omim_gene":["300474"],"alias_name":null,"gene_symbol":"GK","hgnc_symbol":"GK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:30671476-30748725","ensembl_id":"ENSG00000198814"}},"GRch38":{"90":{"location":"X:30653359-30731456","ensembl_id":"ENSG00000198814"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27604308","8499912","8651297"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Glycerol kinase deficiency MIM#307030","Disorders of glycerol metabolism"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["EAR-7.1/EAR-7.2","THRA3","AR7","ERBA","NR1A1"],"biotype":"protein_coding","hgnc_id":"HGNC:11796","gene_name":"thyroid hormone receptor, alpha","omim_gene":["190120"],"alias_name":null,"gene_symbol":"THRA","hgnc_symbol":"THRA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:38214543-38250120","ensembl_id":"ENSG00000126351"}},"GRch38":{"90":{"location":"17:40058290-40093867","ensembl_id":"ENSG00000126351"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"THRA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27144938","22168587","27381958","2567082","24847459","23940126","22494134"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital hypothyroidism or thyroid agenesis","delayed dentition","macrocephaly","Hypothyroidism, Congenital, Nongoitrous, 6, 614450","Hypothyroidism, congenital, nongoitrous, 6, 614450","neurodevelopmental delay","Resistance to thyroid hormone","constipation","skeletal dysplasia","growth retardation","macrocytic anaemia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3471,"hash_id":null,"name":"Congenital hypothyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Thyroid disorders","description":"This panel contains genes associated with congenital hypothyroidism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'congenital hypothyroidism' panel V3.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.120","version_created":"2026-04-02T11:51:29.895216+11:00","relevant_disorders":["Hypothyroidism HP:0000821"],"stats":{"number_of_genes":63,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BAF60B","Rsc6p","CRACD2","PRO2451"],"biotype":"protein_coding","hgnc_id":"HGNC:11107","gene_name":"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2","omim_gene":["601736"],"alias_name":["mammalian chromatin remodeling complex BRG1-associated factor 60B","Swp73-like protein","chromatin remodeling complex BAF60B subunit","SWI/SNF complex 60 kDa subunit B"],"gene_symbol":"SMARCD2","hgnc_symbol":"SMARCD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:61909444-61920425","ensembl_id":"ENSG00000108604"}},"GRch38":{"90":{"location":"17:63832081-63843065","ensembl_id":"ENSG00000108604"}}},"hgnc_date_symbol_changed":"1998-05-15"},"entity_type":"gene","entity_name":"SMARCD2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["28369036"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Specific granule deficiency 2, 617475"],"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":["DIP-1","MIB","KIAA1323","ZZANK2","ZZZ6"],"biotype":"protein_coding","hgnc_id":"HGNC:21086","gene_name":"mindbomb E3 ubiquitin protein ligase 1","omim_gene":["608677"],"alias_name":null,"gene_symbol":"MIB1","hgnc_symbol":"MIB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:19284918-19450918","ensembl_id":"ENSG00000101752"}},"GRch38":{"90":{"location":"18:21704957-21870957","ensembl_id":"ENSG00000101752"}}},"hgnc_date_symbol_changed":"2004-06-18"},"entity_type":"gene","entity_name":"MIB1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["33057194"],"evidence":["Expert Review Red","Literature","Expert list"],"phenotypes":["Congenital heart disease"],"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":["CGI-63","NRBF1","FASN2B","ETR1"],"biotype":"protein_coding","hgnc_id":"HGNC:19691","gene_name":"mitochondrial trans-2-enoyl-CoA reductase","omim_gene":["608205"],"alias_name":["nuclear receptor binding factor 1","mitochondrial 2-enoyl thioester reductase"],"gene_symbol":"MECR","hgnc_symbol":"MECR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:29519385-29557454","ensembl_id":"ENSG00000116353"}},"GRch38":{"90":{"location":"1:29192873-29230942","ensembl_id":"ENSG00000116353"}}},"hgnc_date_symbol_changed":"2005-05-24"},"entity_type":"gene","entity_name":"MECR","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["27817865","33401012","31137067","31070877"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM#\t617282"],"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":["FAF"],"biotype":"protein_coding","hgnc_id":"HGNC:3587","gene_name":"Fanconi anemia complementation group F","omim_gene":["613897"],"alias_name":null,"gene_symbol":"FANCF","hgnc_symbol":"FANCF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:22644079-22647387","ensembl_id":"ENSG00000183161"}},"GRch38":{"90":{"location":"11:22622519-22626787","ensembl_id":"ENSG00000183161"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anaemia, complementation group F 603467","MONDO:0011325"],"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":["h-vps45","H1"],"biotype":"protein_coding","hgnc_id":"HGNC:14579","gene_name":"vacuolar protein sorting 45 homolog","omim_gene":["610035"],"alias_name":null,"gene_symbol":"VPS45","hgnc_symbol":"VPS45","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:150039369-150117505","ensembl_id":"ENSG00000136631"}},"GRch38":{"90":{"location":"1:150067293-150145327","ensembl_id":"ENSG00000136631"}}},"hgnc_date_symbol_changed":"2006-12-19"},"entity_type":"gene","entity_name":"VPS45","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Expert list"],"phenotypes":["Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285"],"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":[],"biotype":null,"hgnc_id":"HGNC:12029","gene_name":"T-cell receptor alpha constant","omim_gene":["186880"],"alias_name":null,"gene_symbol":"TRAC","hgnc_symbol":"TRAC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:23016447-23021097","ensembl_id":"ENSG00000229164"}},"GRch38":{"90":{"location":"14:22547506-22552154","ensembl_id":"ENSG00000277734"}}},"hgnc_date_symbol_changed":"2000-05-08"},"entity_type":"gene","entity_name":"TRAC","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Mackenzie's Mission"],"phenotypes":["Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (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":["HLP","DDX13","SKI2W","170A","SKIV2L1"],"biotype":"protein_coding","hgnc_id":"HGNC:10898","gene_name":"Ski2 like RNA helicase","omim_gene":["600478"],"alias_name":null,"gene_symbol":"SKIV2L","hgnc_symbol":"SKIV2L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31926857-31937532","ensembl_id":"ENSG00000204351"}},"GRch38":{"90":{"location":"6:31959080-31969755","ensembl_id":"ENSG00000204351"}}},"hgnc_date_symbol_changed":"1995-07-06"},"entity_type":"gene","entity_name":"SKIV2L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22444670","34414925","25714577"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Trichohepatoenteric syndrome 2, MIM# 614602"],"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":["FLJ20731","FKBP22"],"biotype":"protein_coding","hgnc_id":"HGNC:18625","gene_name":"FK506 binding protein 14","omim_gene":["614505"],"alias_name":null,"gene_symbol":"FKBP14","hgnc_symbol":"FKBP14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:30050203-30066300","ensembl_id":"ENSG00000106080"}},"GRch38":{"90":{"location":"7:30010587-30026684","ensembl_id":"ENSG00000106080"}}},"hgnc_date_symbol_changed":"2002-06-05"},"entity_type":"gene","entity_name":"FKBP14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22265013","24773188","27149304","31132235","30561154","28617417"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MIM#614557"],"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":["CD118"],"biotype":"protein_coding","hgnc_id":"HGNC:6597","gene_name":"LIF receptor alpha","omim_gene":["151443"],"alias_name":null,"gene_symbol":"LIFR","hgnc_symbol":"LIFR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:38475065-38608456","ensembl_id":"ENSG00000113594"}},"GRch38":{"90":{"location":"5:38474963-38608354","ensembl_id":"ENSG00000113594"}}},"hgnc_date_symbol_changed":"1992-08-24"},"entity_type":"gene","entity_name":"LIFR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9674905","9674906","14740318","24988918","35663789","20447141","29620724","28334964"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (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":["PRR","PRR1","PVRR1","SK-12","HIgR","CLPED1","CD111","OFC7"],"biotype":"protein_coding","hgnc_id":"HGNC:9706","gene_name":"nectin cell adhesion molecule 1","omim_gene":["600644"],"alias_name":["nectin"],"gene_symbol":"NECTIN1","hgnc_symbol":"NECTIN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:119494120-119599794","ensembl_id":"ENSG00000110400"}},"GRch38":{"90":{"location":"11:119623408-119729084","ensembl_id":"ENSG00000110400"}}},"hgnc_date_symbol_changed":"2016-02-12"},"entity_type":"gene","entity_name":"NECTIN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25913853","10932188","26953873"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (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":["GCSP","NKH"],"biotype":"protein_coding","hgnc_id":"HGNC:4313","gene_name":"glycine decarboxylase","omim_gene":["238300"],"alias_name":["glycine cleavage system protein P","glycine dehydrogenase"],"gene_symbol":"GLDC","hgnc_symbol":"GLDC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:6532464-6645650","ensembl_id":"ENSG00000178445"}},"GRch38":{"90":{"location":"9:6532464-6645783","ensembl_id":"ENSG00000178445"}}},"hgnc_date_symbol_changed":"1992-04-08"},"entity_type":"gene","entity_name":"GLDC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25736695","27362913","26179960","24407464"],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["glycine encephalopathy MONDO:0011612"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PPP1R88"],"biotype":"protein_coding","hgnc_id":"HGNC:31673","gene_name":"glutaredoxin and cysteine rich domain containing 1","omim_gene":["613283"],"alias_name":["protein phosphatase 1, regulatory subunit 88"],"gene_symbol":"GRXCR1","hgnc_symbol":"GRXCR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:42895284-43032675","ensembl_id":"ENSG00000215203"}},"GRch38":{"90":{"location":"4:42893267-43030658","ensembl_id":"ENSG00000215203"}}},"hgnc_date_symbol_changed":"2008-07-04"},"entity_type":"gene","entity_name":"GRXCR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26445815","20137778","20137774","26226137","25802247","26969326"],"evidence":["Expert Review Green","BabySeq Category C gene"],"phenotypes":["Deafness, autosomal recessive 25, MIM#\t613285"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deafness"],"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":["JDP1"],"biotype":"protein_coding","hgnc_id":"HGNC:28908","gene_name":"DnaJ heat shock protein family (Hsp40) member C12","omim_gene":["606060"],"alias_name":["J domain protein 1"],"gene_symbol":"DNAJC12","hgnc_symbol":"DNAJC12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:69556427-69597924","ensembl_id":"ENSG00000108176"}},"GRch38":{"90":{"location":"10:67796665-67838166","ensembl_id":"ENSG00000108176"}}},"hgnc_date_symbol_changed":"2004-04-15"},"entity_type":"gene","entity_name":"DNAJC12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384"],"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":[]},{"gene_data":{"alias":["Kir5.1","BIR9"],"biotype":"protein_coding","hgnc_id":"HGNC:6262","gene_name":"potassium voltage-gated channel subfamily J member 16","omim_gene":["605722"],"alias_name":null,"gene_symbol":"KCNJ16","hgnc_symbol":"KCNJ16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:68049570-68131749","ensembl_id":"ENSG00000153822"}},"GRch38":{"90":{"location":"17:70053429-70135608","ensembl_id":"ENSG00000153822"}}},"hgnc_date_symbol_changed":"1998-05-29"},"entity_type":"gene","entity_name":"KCNJ16","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33811157","33840812"],"evidence":["Expert Review Green","Literature","Expert Review Green","Literature"],"phenotypes":["deafness","Renal tubulopathy","Inherited renal tubular disease, MONDO:0015962, KCNJ16-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Pegasus","FLJ22973"],"biotype":"protein_coding","hgnc_id":"HGNC:14283","gene_name":"IKAROS family zinc finger 5","omim_gene":["606238"],"alias_name":null,"gene_symbol":"IKZF5","hgnc_symbol":"IKZF5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:124750322-124768333","ensembl_id":"ENSG00000095574"}},"GRch38":{"90":{"location":"10:122990806-123008817","ensembl_id":"ENSG00000095574"}}},"hgnc_date_symbol_changed":"2006-08-25"},"entity_type":"gene","entity_name":"IKZF5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31217188"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Thrombocytopaenia 7, MIM#619130"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6081","gene_name":"insulin","omim_gene":["176730"],"alias_name":null,"gene_symbol":"INS","hgnc_symbol":"INS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:2181009-2182571","ensembl_id":"ENSG00000254647"}},"GRch38":{"90":{"location":"11:2159779-2161341","ensembl_id":"ENSG00000254647"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"INS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Maturity Onset Diabetes of the Young (Dominant)","Diabetes mellitus, type 1, 125852","Diabetes mellitus, insulin-dependent, 2, 125852","Transient Neonatal Diabetes, Dominant/Recessive","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10","Maturity-onset diabetes of the young, type 10, 613370","Diabetes mellitus, permanent neonatal, 606176","Hyperproinsulinemia, familial, with or without diabetes","Permanent Neonatal diabetes mellitus","Maturity Onset Diabetes of the Young","MODY10"],"mode_of_inheritance":"BOTH monoallelic and 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":["DFFRX","FAF","MRX99"],"biotype":"protein_coding","hgnc_id":"HGNC:12632","gene_name":"ubiquitin specific peptidase 9, X-linked","omim_gene":["300072"],"alias_name":null,"gene_symbol":"USP9X","hgnc_symbol":"USP9X","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:40944888-41095832","ensembl_id":"ENSG00000124486"}},"GRch38":{"90":{"location":"X:41085635-41236579","ensembl_id":"ENSG00000124486"}}},"hgnc_date_symbol_changed":"1999-02-01"},"entity_type":"gene","entity_name":"USP9X","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31443933","26833328"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Intellectual developmental disorder, X-linked 99, MIM#300919"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BRD6","CT9"],"biotype":"protein_coding","hgnc_id":"HGNC:1105","gene_name":"bromodomain testis associated","omim_gene":["602144"],"alias_name":["cancer/testis antigen 9"],"gene_symbol":"BRDT","hgnc_symbol":"BRDT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:92414928-92479983","ensembl_id":"ENSG00000137948"}},"GRch38":{"90":{"location":"1:91949371-92014426","ensembl_id":"ENSG00000137948"}}},"hgnc_date_symbol_changed":"1997-08-15"},"entity_type":"gene","entity_name":"BRDT","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32469048","28199965","22922464"],"evidence":["Literature","Expert Review Amber","Expert Review Amber","Literature"],"phenotypes":["Spermatogenic failure MONDO:0004983"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.143","version_created":"2026-04-13T17:24:02.975530+10:00","relevant_disorders":[],"stats":{"number_of_genes":265,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5102","gene_name":"homeobox A13","omim_gene":["142959"],"alias_name":null,"gene_symbol":"HOXA13","hgnc_symbol":"HOXA13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:27233122-27239725","ensembl_id":"ENSG00000106031"}},"GRch38":{"90":{"location":"7:27193503-27200106","ensembl_id":"ENSG00000106031"}}},"hgnc_date_symbol_changed":"1990-07-05"},"entity_type":"str","entity_name":"HOXA13_HFGS_GCN3","confidence_level":"3","penetrance":null,"publications":["10839976","12073020","33811808"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Hand-foot-uterus syndrome MIM#140000"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"GCN","chromosome":"7","grch37_coordinates":[27239298,27239351],"grch38_coordinates":[27199679,27199732],"normal_repeats":18,"pathogenic_repeats":24,"tags":["paediatric-onset"],"panel":{"id":63,"hash_id":null,"name":"Congenital anomalies of the kidney and urinary tract (CAKUT)","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel contains genes associated with nonsyndromic and syndromic congenital anomalies of the kidney and urinary tract (CAKUT).","status":"public","version":"0.204","version_created":"2026-03-19T13:24:30.325727+11:00","relevant_disorders":["Abnormality of the urinary system HP:0000079"],"stats":{"number_of_genes":124,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}},{"gene_data":{"alias":["TFIID"],"biotype":"protein_coding","hgnc_id":"HGNC:11588","gene_name":"TATA-box binding protein","omim_gene":["600075"],"alias_name":null,"gene_symbol":"TBP","hgnc_symbol":"TBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:170863390-170881958","ensembl_id":"ENSG00000112592"}},"GRch38":{"90":{"location":"6:170554302-170572870","ensembl_id":"ENSG00000112592"}}},"hgnc_date_symbol_changed":"1993-05-26"},"entity_type":"str","entity_name":"TBP_SCA17_CAG","confidence_level":"3","penetrance":null,"publications":["20301611","29325606"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Spinocerebellar ataxia 17 MIM#607136"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CAG","chromosome":"6","grch37_coordinates":[170870996,170871109],"grch38_coordinates":[170561908,170562021],"normal_repeats":40,"pathogenic_repeats":49,"tags":["STR"],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]}}]}