{"count":35557,"next":"https://panelapp-aus.org/api/v1/genes/?format=json&page=206","previous":"https://panelapp-aus.org/api/v1/genes/?format=json&page=204","results":[{"gene_data":{"alias":["EF-Tsmt","EF-TS"],"biotype":"protein_coding","hgnc_id":"HGNC:12367","gene_name":"Ts translation elongation factor, mitochondrial","omim_gene":["604723"],"alias_name":null,"gene_symbol":"TSFM","hgnc_symbol":"TSFM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:58176372-58201854","ensembl_id":"ENSG00000123297"}},"GRch38":{"90":{"location":"12:57782589-57808071","ensembl_id":"ENSG00000123297"}}},"hgnc_date_symbol_changed":"1999-05-25"},"entity_type":"gene","entity_name":"TSFM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital","GeneReviews"],"phenotypes":["Combined oxidative phosphorylation deficiency 3"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2073","gene_name":"tripeptidyl peptidase 1","omim_gene":["607998"],"alias_name":["TPP I"],"gene_symbol":"TPP1","hgnc_symbol":"TPP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:6634000-6640692","ensembl_id":"ENSG00000166340"}},"GRch38":{"90":{"location":"11:6612763-6619461","ensembl_id":"ENSG00000166340"}}},"hgnc_date_symbol_changed":"2004-12-10"},"entity_type":"gene","entity_name":"TPP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Autosomal recessive spinocerebellar ataxia 7, 609270","Neuronal ceroid lipofuscinosis, 204500","Spinocerebellar ataxia, autosomal recessive 7, 609270","Ceroid lipofuscinosis, neuronal, 2, 204500"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC26979","JBTS6","NPHP11"],"biotype":"protein_coding","hgnc_id":"HGNC:28396","gene_name":"transmembrane protein 67","omim_gene":["609884"],"alias_name":["Meckelin"],"gene_symbol":"TMEM67","hgnc_symbol":"TMEM67","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:94767072-94831462","ensembl_id":"ENSG00000164953"}},"GRch38":{"90":{"location":"8:93754844-93819234","ensembl_id":"ENSG00000164953"}}},"hgnc_date_symbol_changed":"2005-08-04"},"entity_type":"gene","entity_name":"TMEM67","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Joubert syndrome 6, MIM#\t610688"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["JBTS14"],"biotype":"protein_coding","hgnc_id":"HGNC:14432","gene_name":"transmembrane protein 237","omim_gene":["614423"],"alias_name":null,"gene_symbol":"TMEM237","hgnc_symbol":"TMEM237","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:202484907-202508293","ensembl_id":"ENSG00000155755"}},"GRch38":{"90":{"location":"2:201620184-201643570","ensembl_id":"ENSG00000155755"}}},"hgnc_date_symbol_changed":"2011-05-20"},"entity_type":"gene","entity_name":"TMEM237","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Joubert syndrome 14, MIM#\t614424"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ22167","ALYE870","PRO1886","JBTS20","MKS11"],"biotype":"protein_coding","hgnc_id":"HGNC:37234","gene_name":"transmembrane protein 231","omim_gene":["614949"],"alias_name":null,"gene_symbol":"TMEM231","hgnc_symbol":"TMEM231","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:75572015-75590184","ensembl_id":"ENSG00000205084"}},"GRch38":{"90":{"location":"16:75536744-75556286","ensembl_id":"ENSG00000205084"}}},"hgnc_date_symbol_changed":"2009-10-02"},"entity_type":"gene","entity_name":"TMEM231","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Royal Melbourne Hospital"],"phenotypes":["Joubert syndrome 20, MIM# 614970","Meckel syndrome 11 615397"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC13379","HSPC244","JBTS2"],"biotype":"protein_coding","hgnc_id":"HGNC:25018","gene_name":"transmembrane protein 216","omim_gene":["613277"],"alias_name":null,"gene_symbol":"TMEM216","hgnc_symbol":"TMEM216","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:61159159-61166335","ensembl_id":"ENSG00000187049"}},"GRch38":{"90":{"location":"11:61391687-61398863","ensembl_id":"ENSG00000187049"}}},"hgnc_date_symbol_changed":"2008-06-10"},"entity_type":"gene","entity_name":"TMEM216","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20036350","20512146"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Joubert syndrome 2, MIM#\t608091"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSPC196","JBTS16"],"biotype":"protein_coding","hgnc_id":"HGNC:26944","gene_name":"transmembrane protein 138","omim_gene":["614459"],"alias_name":null,"gene_symbol":"TMEM138","hgnc_symbol":"TMEM138","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:61129473-61136981","ensembl_id":"ENSG00000149483"}},"GRch38":{"90":{"location":"11:61362001-61369509","ensembl_id":"ENSG00000149483"}}},"hgnc_date_symbol_changed":"2006-03-15"},"entity_type":"gene","entity_name":"TMEM138","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Royal Melbourne Hospital"],"phenotypes":["Joubert syndrome 16, MIM#\t614465"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC33727","FLJ11273"],"biotype":"protein_coding","hgnc_id":"HGNC:22407","gene_name":"transmembrane protein 106B","omim_gene":["613413"],"alias_name":null,"gene_symbol":"TMEM106B","hgnc_symbol":"TMEM106B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:12250867-12282993","ensembl_id":"ENSG00000106460"}},"GRch38":{"90":{"location":"7:12211241-12243367","ensembl_id":"ENSG00000106460"}}},"hgnc_date_symbol_changed":"2005-12-19"},"entity_type":"gene","entity_name":"TMEM106B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29186371","29444210"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Hypomyelinating leukodystrophy 16, 617964"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TIN2"],"biotype":"protein_coding","hgnc_id":"HGNC:11824","gene_name":"TERF1 interacting nuclear factor 2","omim_gene":["604319"],"alias_name":null,"gene_symbol":"TINF2","hgnc_symbol":"TINF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:24708849-24711880","ensembl_id":"ENSG00000092330"}},"GRch38":{"90":{"location":"14:24239643-24242674","ensembl_id":"ENSG00000092330"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"TINF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18252230","21477109","18979121"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Autosomal dominant dyskeratosis congenita 3, 613990","Revesz syndrome, 268130"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ICF45","FLJ11601","FLJ20546","IHG-1","hTHG1"],"biotype":"protein_coding","hgnc_id":"HGNC:26053","gene_name":"tRNA-histidine guanylyltransferase 1 like","omim_gene":null,"alias_name":["interphase cytoplasmic foci protein 45","induced by high glucose-1"],"gene_symbol":"THG1L","hgnc_symbol":"THG1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:157158205-157168456","ensembl_id":"ENSG00000113272"}},"GRch38":{"90":{"location":"5:157731197-157741448","ensembl_id":"ENSG00000113272"}}},"hgnc_date_symbol_changed":"2006-09-01"},"entity_type":"gene","entity_name":"THG1L","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["27307223","30214071","31168944"],"evidence":["Expert Review Amber","Royal Melbourne Hospital"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:17768","gene_name":"tyrosyl-DNA phosphodiesterase 2","omim_gene":["605764"],"alias_name":null,"gene_symbol":"TDP2","hgnc_symbol":"TDP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:24650205-24667261","ensembl_id":"ENSG00000111802"}},"GRch38":{"90":{"location":"6:24649977-24667033","ensembl_id":"ENSG00000111802"}}},"hgnc_date_symbol_changed":"2010-05-07"},"entity_type":"gene","entity_name":"TDP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31410782","30109272","24658003"],"evidence":["Expert Review Green","Expert list","Royal Melbourne Hospital","GeneReviews"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 23"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP564D116","TECT3","JBTS18"],"biotype":"protein_coding","hgnc_id":"HGNC:24519","gene_name":"tectonic family member 3","omim_gene":["613847"],"alias_name":null,"gene_symbol":"TCTN3","hgnc_symbol":"TCTN3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:97423158-97453900","ensembl_id":"ENSG00000119977"}},"GRch38":{"90":{"location":"10:95663396-95694143","ensembl_id":"ENSG00000119977"}}},"hgnc_date_symbol_changed":"2007-08-20"},"entity_type":"gene","entity_name":"TCTN3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22883145","25118024"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Joubert syndrome 18, MIM# 614815","Orofaciodigital syndrome IV, MIM# 258860"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ12975","TECT2","MKS8","JBTS24"],"biotype":"protein_coding","hgnc_id":"HGNC:25774","gene_name":"tectonic family member 2","omim_gene":["613846"],"alias_name":["Meckel syndrome, type 8"],"gene_symbol":"TCTN2","hgnc_symbol":"TCTN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:124155660-124192948","ensembl_id":"ENSG00000168778"}},"GRch38":{"90":{"location":"12:123671113-123708403","ensembl_id":"ENSG00000168778"}}},"hgnc_date_symbol_changed":"2007-08-20"},"entity_type":"gene","entity_name":"TCTN2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25118024","21565611"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Joubert syndrome 24, MIM#\t616654"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ21127","TECT1","JBTS13"],"biotype":"protein_coding","hgnc_id":"HGNC:26113","gene_name":"tectonic family member 1","omim_gene":["609863"],"alias_name":null,"gene_symbol":"TCTN1","hgnc_symbol":"TCTN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:111051832-111087235","ensembl_id":"ENSG00000204852"}},"GRch38":{"90":{"location":"12:110614027-110649430","ensembl_id":"ENSG00000204852"}}},"hgnc_date_symbol_changed":"2007-08-20"},"entity_type":"gene","entity_name":"TCTN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31302911","28631893","21725307","26477546","26489806"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Joubert syndrome 13, MIM#\t614173"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ11046"],"biotype":"protein_coding","hgnc_id":"HGNC:25622","gene_name":"TBC1 domain family member 23","omim_gene":["617687"],"alias_name":null,"gene_symbol":"TBC1D23","hgnc_symbol":"TBC1D23","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:99979844-100044095","ensembl_id":"ENSG00000036054"}},"GRch38":{"90":{"location":"3:100261000-100325251","ensembl_id":"ENSG00000036054"}}},"hgnc_date_symbol_changed":"2006-01-06"},"entity_type":"gene","entity_name":"TBC1D23","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28823707","28823706"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Pontocerebellar hypoplasia type 11, 617695"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SYNGAP","RASA5","KIAA1938"],"biotype":"protein_coding","hgnc_id":"HGNC:11497","gene_name":"synaptic Ras GTPase activating protein 1","omim_gene":["603384"],"alias_name":null,"gene_symbol":"SYNGAP1","hgnc_symbol":"SYNGAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:33387847-33421466","ensembl_id":"ENSG00000197283"}},"GRch38":{"90":{"location":"6:33419661-33457541","ensembl_id":"ENSG00000197283"}}},"hgnc_date_symbol_changed":"1999-12-08"},"entity_type":"gene","entity_name":"SYNGAP1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["26989088"],"evidence":["Expert Review Amber","Royal Melbourne Hospital"],"phenotypes":["Autosomal dominant mental retardation 5, 612621"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ13352","SRD5A2L","SRD5A2L1"],"biotype":"protein_coding","hgnc_id":"HGNC:25812","gene_name":"steroid 5 alpha-reductase 3","omim_gene":["611715"],"alias_name":null,"gene_symbol":"SRD5A3","hgnc_symbol":"SRD5A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:56212276-56239263","ensembl_id":"ENSG00000128039"}},"GRch38":{"90":{"location":"4:55346109-55373096","ensembl_id":"ENSG00000128039"}}},"hgnc_date_symbol_changed":"2007-11-12"},"entity_type":"gene","entity_name":"SRD5A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list","Royal Melbourne Hospital"],"phenotypes":["Kahrizi syndrome, 612713","Congenital disorder of glycosylation, type Iq, 612379","Congenital disorder of glycosylation type Iq, 612379"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["p62","p60","p62B","A170"],"biotype":"protein_coding","hgnc_id":"HGNC:11280","gene_name":"sequestosome 1","omim_gene":["601530"],"alias_name":null,"gene_symbol":"SQSTM1","hgnc_symbol":"SQSTM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:179233388-179265078","ensembl_id":"ENSG00000161011"}},"GRch38":{"90":{"location":"5:179806398-179838078","ensembl_id":"ENSG00000161011"}}},"hgnc_date_symbol_changed":"2000-06-13"},"entity_type":"gene","entity_name":"SQSTM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27545679"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SDR38C1"],"biotype":"protein_coding","hgnc_id":"HGNC:11257","gene_name":"sepiapterin reductase","omim_gene":["182125"],"alias_name":["short chain dehydrogenase/reductase family 38C, member 1","Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)"],"gene_symbol":"SPR","hgnc_symbol":"SPR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:73114489-73119287","ensembl_id":"ENSG00000116096"}},"GRch38":{"90":{"location":"2:72887360-72892158","ensembl_id":"ENSG00000116096"}}},"hgnc_date_symbol_changed":"1991-12-05"},"entity_type":"gene","entity_name":"SPR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Dopa-responsive dystonia due to sepiaterin reductase deficiency, 612716","Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716"],"mode_of_inheritance":"BOTH monoallelic and 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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RGS-PX2"],"biotype":"protein_coding","hgnc_id":"HGNC:14977","gene_name":"sorting nexin 14","omim_gene":["616105"],"alias_name":null,"gene_symbol":"SNX14","hgnc_symbol":"SNX14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:86215214-86303874","ensembl_id":"ENSG00000135317"}},"GRch38":{"90":{"location":"6:85505496-85594156","ensembl_id":"ENSG00000135317"}}},"hgnc_date_symbol_changed":"2003-09-04"},"entity_type":"gene","entity_name":"SNX14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Autosomal recessive spinocerebellar ataxia 20, 616354","Autosomal recessive spinocerebellar ataxia (#616354)"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NHE6","KIAA0267"],"biotype":"protein_coding","hgnc_id":"HGNC:11079","gene_name":"solute carrier family 9 member A6","omim_gene":["300231"],"alias_name":null,"gene_symbol":"SLC9A6","hgnc_symbol":"SLC9A6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:135067598-135129423","ensembl_id":"ENSG00000198689"}},"GRch38":{"90":{"location":"X:135973841-136047269","ensembl_id":"ENSG00000198689"}}},"hgnc_date_symbol_changed":"1999-07-30"},"entity_type":"gene","entity_name":"SLC9A6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mental retardation, X-linked syndromic, Christianson type, 300243"],"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":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp434A2417","KIAA1996"],"biotype":"protein_coding","hgnc_id":"HGNC:23338","gene_name":"acyl-CoA binding domain containing 5","omim_gene":["616618"],"alias_name":null,"gene_symbol":"ACBD5","hgnc_symbol":"ACBD5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:27484146-27531059","ensembl_id":"ENSG00000107897"}},"GRch38":{"90":{"location":"10:27195214-27242130","ensembl_id":"ENSG00000107897"}}},"hgnc_date_symbol_changed":"2003-11-11"},"entity_type":"gene","entity_name":"ACBD5","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["27799409","23105016"],"evidence":["Expert Review Green","Expert Review Amber","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Leukodystrophy","syndromic cleft palate","ataxia","retinal dystrophy"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SIGMA1B"],"biotype":"protein_coding","hgnc_id":"HGNC:560","gene_name":"adaptor related protein complex 1 sigma 2 subunit","omim_gene":["300629"],"alias_name":null,"gene_symbol":"AP1S2","hgnc_symbol":"AP1S2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:15843929-15873054","ensembl_id":"ENSG00000182287"}},"GRch38":{"90":{"location":"X:15825806-15854931","ensembl_id":"ENSG00000182287"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP1S2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Pettigrew syndrome, MIM# 304340"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0299","MOCA","PBP"],"biotype":"protein_coding","hgnc_id":"HGNC:2989","gene_name":"dedicator of cytokinesis 3","omim_gene":["603123"],"alias_name":null,"gene_symbol":"DOCK3","hgnc_symbol":"DOCK3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:50712672-51421629","ensembl_id":"ENSG00000088538"}},"GRch38":{"90":{"location":"3:50675241-51384198","ensembl_id":"ENSG00000088538"}}},"hgnc_date_symbol_changed":"1998-05-13"},"entity_type":"gene","entity_name":"DOCK3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PPP1R143"],"biotype":"protein_coding","hgnc_id":"HGNC:11071","gene_name":"solute carrier family 9 member A1","omim_gene":["107310"],"alias_name":["protein phosphatase 1, regulatory subunit 143"],"gene_symbol":"SLC9A1","hgnc_symbol":"SLC9A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:27425306-27493472","ensembl_id":"ENSG00000090020"}},"GRch38":{"90":{"location":"1:27098815-27166981","ensembl_id":"ENSG00000090020"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"SLC9A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25205112","30018422","25760855"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Lichtenstein-Knorr Syndrome, MIM#\t616291"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ11856","PAR1","GPCR41","D15Ertd747e","RFVT2","hRFT3"],"biotype":"protein_coding","hgnc_id":"HGNC:30224","gene_name":"solute carrier family 52 member 2","omim_gene":["607882"],"alias_name":null,"gene_symbol":"SLC52A2","hgnc_symbol":"SLC52A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:145577795-145584932","ensembl_id":"ENSG00000185803"}},"GRch38":{"90":{"location":"8:144354135-144361272","ensembl_id":"ENSG00000185803"}}},"hgnc_date_symbol_changed":"2012-02-29"},"entity_type":"gene","entity_name":"SLC52A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Bwon-Vialetto-Van Laere syndrome 2, 614707"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ30169","H2-ALPHA"],"biotype":"protein_coding","hgnc_id":"HGNC:12407","gene_name":"tubulin alpha 4a","omim_gene":["191110"],"alias_name":null,"gene_symbol":"TUBA4A","hgnc_symbol":"TUBA4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:220114433-220142892","ensembl_id":"ENSG00000127824"}},"GRch38":{"90":{"location":"2:219249711-219278170","ensembl_id":"ENSG00000127824"}}},"hgnc_date_symbol_changed":"2007-02-12"},"entity_type":"gene","entity_name":"TUBA4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["38884572","37418012"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spastic ataxia 11, autosomal dominant, MIM# 621226"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0659","NSDDR","DAGLALPHA"],"biotype":"protein_coding","hgnc_id":"HGNC:1165","gene_name":"diacylglycerol lipase alpha","omim_gene":["614015"],"alias_name":["neural stem cell-derived dendrite regulator"],"gene_symbol":"DAGLA","hgnc_symbol":"DAGLA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:61447905-61514473","ensembl_id":"ENSG00000134780"}},"GRch38":{"90":{"location":"11:61680433-61747001","ensembl_id":"ENSG00000134780"}}},"hgnc_date_symbol_changed":"2007-02-28"},"entity_type":"gene","entity_name":"DAGLA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35737950"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neuroocular syndrome 2, paroxysmal type, MIM# 168885"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["NADC3","SDCT2"],"biotype":"protein_coding","hgnc_id":"HGNC:14430","gene_name":"solute carrier family 13 member 3","omim_gene":["606411"],"alias_name":null,"gene_symbol":"SLC13A3","hgnc_symbol":"SLC13A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:45186463-45304714","ensembl_id":"ENSG00000158296"}},"GRch38":{"90":{"location":"20:46557823-46684467","ensembl_id":"ENSG00000158296"}}},"hgnc_date_symbol_changed":"2001-06-13"},"entity_type":"gene","entity_name":"SLC13A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["https://www.neurology.org/doi/full/10.1212/NXG.0000000000200101 (No PMID)"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384)"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC2404"],"biotype":"protein_coding","hgnc_id":"HGNC:23339","gene_name":"acyl-CoA binding domain containing 6","omim_gene":["616352"],"alias_name":null,"gene_symbol":"ACBD6","hgnc_symbol":"ACBD6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:180238788-180245359","ensembl_id":"ENSG00000230124"}},"GRch38":{"90":{"location":"1:180269653-180502954","ensembl_id":"ENSG00000230124"}}},"hgnc_date_symbol_changed":"2003-11-11"},"entity_type":"gene","entity_name":"ACBD6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37951597"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PMCA2"],"biotype":"protein_coding","hgnc_id":"HGNC:815","gene_name":"ATPase plasma membrane Ca2+ transporting 2","omim_gene":["108733"],"alias_name":["plasma membrane Ca2+ pump 2","plasma membrane calcium-transporting ATPase 2"],"gene_symbol":"ATP2B2","hgnc_symbol":"ATP2B2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:10365707-10749716","ensembl_id":"ENSG00000157087"}},"GRch38":{"90":{"location":"3:10324023-10708031","ensembl_id":"ENSG00000157087"}}},"hgnc_date_symbol_changed":"1992-06-26"},"entity_type":"gene","entity_name":"ATP2B2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["PMID: 37675773"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3642","gene_name":"ferredoxin reductase","omim_gene":["103270"],"alias_name":["adrenodoxin-NADP(+) reductase","adrenodoxin reductase"],"gene_symbol":"FDXR","hgnc_symbol":"FDXR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:72858619-72869156","ensembl_id":"ENSG00000161513"}},"GRch38":{"90":{"location":"17:74862497-74873031","ensembl_id":"ENSG00000161513"}}},"hgnc_date_symbol_changed":"1988-06-09"},"entity_type":"gene","entity_name":"FDXR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30250212","28965846","29040572","33348459","37046037","37481223"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1035","Nna1","CCP1"],"biotype":"protein_coding","hgnc_id":"HGNC:17258","gene_name":"ATP/GTP binding protein 1","omim_gene":["606830"],"alias_name":["cytosolic carboxypeptidase 1","tubulinyl-Tyr carboxypeptidase","carboxypeptidase-tubulin","tyrosine carboxypeptidase","soluble carboxypeptidase"],"gene_symbol":"AGTPBP1","hgnc_symbol":"AGTPBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:88161455-88356944","ensembl_id":"ENSG00000135049"}},"GRch38":{"90":{"location":"9:85546539-85742029","ensembl_id":"ENSG00000135049"}}},"hgnc_date_symbol_changed":"2002-03-27"},"entity_type":"gene","entity_name":"AGTPBP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30420557, 28600779, 30976113, 38153683, 28325758"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Neurodegeneration, childhood-onset, with cerebellar atrophy, MONDO:0032650"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC14161"],"biotype":"protein_coding","hgnc_id":"HGNC:28214","gene_name":"FERM domain containing 5","omim_gene":["616309"],"alias_name":null,"gene_symbol":"FRMD5","hgnc_symbol":"FRMD5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:44162962-44487450","ensembl_id":"ENSG00000171877"}},"GRch38":{"90":{"location":"15:43870761-44195252","ensembl_id":"ENSG00000171877"}}},"hgnc_date_symbol_changed":"2005-07-20"},"entity_type":"gene","entity_name":"FRMD5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36206744"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12017","gene_name":"translocated promoter region, nuclear basket protein","omim_gene":["189940"],"alias_name":null,"gene_symbol":"TPR","hgnc_symbol":"TPR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:186280784-186344825","ensembl_id":"ENSG00000047410"}},"GRch38":{"90":{"location":"1:186311652-186375693","ensembl_id":"ENSG00000047410"}}},"hgnc_date_symbol_changed":"1991-11-21"},"entity_type":"gene","entity_name":"TPR","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["34494102"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Intellectual developmental disorder, autosomal recessive 79, MIM# 620393"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PKCC","MGC57564"],"biotype":"protein_coding","hgnc_id":"HGNC:9402","gene_name":"protein kinase C gamma","omim_gene":["176980"],"alias_name":["PKC-gamma"],"gene_symbol":"PRKCG","hgnc_symbol":"PRKCG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:54382444-54410906","ensembl_id":"ENSG00000126583"}},"GRch38":{"90":{"location":"19:53879190-53907652","ensembl_id":"ENSG00000126583"}}},"hgnc_date_symbol_changed":"1991-08-02"},"entity_type":"gene","entity_name":"PRKCG","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["34292398"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Spinocerebellar ataxia 14, MIM# 605361"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6556","gene_name":"leucine zipper and EF-hand containing transmembrane protein 1","omim_gene":["604407"],"alias_name":["Mdm38 homolog (yeast)"],"gene_symbol":"LETM1","hgnc_symbol":"LETM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:1813206-1857974","ensembl_id":"ENSG00000168924"}},"GRch38":{"90":{"location":"4:1811479-1856247","ensembl_id":"ENSG00000168924"}}},"hgnc_date_symbol_changed":"1998-05-13"},"entity_type":"gene","entity_name":"LETM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36055214"],"evidence":["Expert Review Green","Expert Review Green","Literature"],"phenotypes":["Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hRrp46p","Rrp46p","RRP46","RRP41B","MGC12901","p12B"],"biotype":"protein_coding","hgnc_id":"HGNC:24662","gene_name":"exosome component 5","omim_gene":["606492"],"alias_name":["exosome component Rrp46"],"gene_symbol":"EXOSC5","hgnc_symbol":"EXOSC5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:41892279-41903384","ensembl_id":"ENSG00000077348"}},"GRch38":{"90":{"location":"19:41386374-41397479","ensembl_id":"ENSG00000077348"}}},"hgnc_date_symbol_changed":"2004-03-26"},"entity_type":"gene","entity_name":"EXOSC5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32504085","29302074"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576","Short stature","Motor developmental delays","Cerebellar hypoplasia","Ataxia"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PIGEA14","PIGEA-14","Chibby","Cby"],"biotype":"protein_coding","hgnc_id":"HGNC:1307","gene_name":"chibby family member 1, beta catenin antagonist","omim_gene":["607757"],"alias_name":["chibby CTNNB1-mediated transcription inhibitor"],"gene_symbol":"CBY1","hgnc_symbol":"CBY1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:39052641-39069859","ensembl_id":"ENSG00000100211"}},"GRch38":{"90":{"location":"22:38656636-38673854","ensembl_id":"ENSG00000100211"}}},"hgnc_date_symbol_changed":"2007-01-26"},"entity_type":"gene","entity_name":"CBY1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33131181","25103236","25220153"],"evidence":["Expert Review Green","Literature"],"phenotypes":["intellectual disability","cerebellar ataxia","molar tooth sign","polydactyly","Joubert syndrome"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SIGLEC4A","SIGLEC-4A","S-MAG"],"biotype":"protein_coding","hgnc_id":"HGNC:6783","gene_name":"myelin associated glycoprotein","omim_gene":["159460"],"alias_name":["sialic acid binding Ig-like lectin 4A"],"gene_symbol":"MAG","hgnc_symbol":"MAG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:35783028-35804707","ensembl_id":"ENSG00000105695"}},"GRch38":{"90":{"location":"19:35292125-35313804","ensembl_id":"ENSG00000105695"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MAG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32629324","32340215","32629324"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spastic paraplegia 75, autosomal recessive, MIM#\t616680","Cerebellar ataxia","Oculomotor apraxia"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KCa2.2","hSK2"],"biotype":"protein_coding","hgnc_id":"HGNC:6291","gene_name":"potassium calcium-activated channel subfamily N member 2","omim_gene":["605879"],"alias_name":["small conductance calcium-activated potassium channel 2"],"gene_symbol":"KCNN2","hgnc_symbol":"KCNN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:113696642-113832337","ensembl_id":"ENSG00000080709"}},"GRch38":{"90":{"location":"5:114360945-114496500","ensembl_id":"ENSG00000080709"}}},"hgnc_date_symbol_changed":"1998-04-07"},"entity_type":"gene","entity_name":"KCNN2","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["33242881"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GATD4"],"biotype":"protein_coding","hgnc_id":"HGNC:1424","gene_name":"carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase","omim_gene":["114010"],"alias_name":null,"gene_symbol":"CAD","hgnc_symbol":"CAD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:27440258-27466811","ensembl_id":"ENSG00000084774"}},"GRch38":{"90":{"location":"2:27217390-27243943","ensembl_id":"ENSG00000084774"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CAD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 32820246"],"evidence":["Expert Review Green","Literature","Expert Review Green","Expert list"],"phenotypes":["Epileptic encephalopathy, early infantile, 50","OMIM # 616457"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["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":null,"mode_of_pathogenicity":null,"publications":["28402445"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Axonal type CMT disease type 2Z, 616688","Cerebellar ataxia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC7199","NgBR","TANGO14"],"biotype":"protein_coding","hgnc_id":"HGNC:21042","gene_name":"NUS1 dehydrodolichyl diphosphate synthase subunit","omim_gene":["610463"],"alias_name":["Nogo-B receptor","transport and golgi organization 14 homolog (Drosophila)"],"gene_symbol":"NUS1","hgnc_symbol":"NUS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:117996665-118031803","ensembl_id":"ENSG00000153989"}},"GRch38":{"90":{"location":"6:117675502-117710640","ensembl_id":"ENSG00000153989"}}},"hgnc_date_symbol_changed":"2006-11-24"},"entity_type":"gene","entity_name":"NUS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31656175","29100083"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Epilepsy, myoclonus, ataxia and scoliosis","Mental retardation, autosomal dominant 55, with seizures, 617831"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HVSP41"],"biotype":"protein_coding","hgnc_id":"HGNC:12713","gene_name":"VPS41, HOPS complex subunit","omim_gene":["605485"],"alias_name":null,"gene_symbol":"VPS41","hgnc_symbol":"VPS41","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:38762563-38971994","ensembl_id":"ENSG00000006715"}},"GRch38":{"90":{"location":"7:38722963-38932394","ensembl_id":"ENSG00000006715"}}},"hgnc_date_symbol_changed":"2000-01-31"},"entity_type":"gene","entity_name":"VPS41","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32808683","33764426"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spinocerebellar ataxia-29 (SCAR29), MIM#619389","Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RDC-1"],"biotype":"protein_coding","hgnc_id":"HGNC:9218","gene_name":"POU class 4 homeobox 1","omim_gene":["601632"],"alias_name":null,"gene_symbol":"POU4F1","hgnc_symbol":"POU4F1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:79172497-79177673","ensembl_id":"ENSG00000152192"}},"GRch38":{"90":{"location":"13:78598362-78603560","ensembl_id":"ENSG00000152192"}}},"hgnc_date_symbol_changed":"1993-10-21"},"entity_type":"gene","entity_name":"POU4F1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33783914","8876243"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ataxia","intention tremor","hypotonia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["dJ734P14.3","TGY","SCA35"],"biotype":"protein_coding","hgnc_id":"HGNC:16255","gene_name":"transglutaminase 6","omim_gene":["613900"],"alias_name":["spinocerebellar ataxia 35"],"gene_symbol":"TGM6","hgnc_symbol":"TGM6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:2361554-2413399","ensembl_id":"ENSG00000166948"}},"GRch38":{"90":{"location":"20:2380908-2432753","ensembl_id":"ENSG00000166948"}}},"hgnc_date_symbol_changed":"2004-07-07"},"entity_type":"gene","entity_name":"TGM6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["25253745","21106500","28934387","22554020","30670339","29053796","23206699"],"evidence":["Victorian Clinical Genetics Services","Royal Melbourne Hospital","Expert Review Red","Expert Review Red","Expert Review Red","Expert Review Red","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["Spinocerebellar ataxia 35, 613908","Spinocerebellar ataxia 35"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["refuted"],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12335","gene_name":"transient receptor potential cation channel subfamily C member 3","omim_gene":["602345"],"alias_name":null,"gene_symbol":"TRPC3","hgnc_symbol":"TRPC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:122800182-122872909","ensembl_id":"ENSG00000138741"}},"GRch38":{"90":{"location":"4:121879027-121951754","ensembl_id":"ENSG00000138741"}}},"hgnc_date_symbol_changed":"1995-09-01"},"entity_type":"gene","entity_name":"TRPC3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["25477146","26112884"],"evidence":["GeneReviews","Royal Melbourne Hospital","Expert Review Amber","Expert Review Amber","Royal Melbourne Hospital","GeneReviews"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SEN54","SEN54L"],"biotype":"protein_coding","hgnc_id":"HGNC:27561","gene_name":"tRNA splicing endonuclease subunit 54","omim_gene":["608755"],"alias_name":null,"gene_symbol":"TSEN54","hgnc_symbol":"TSEN54","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:73512141-73520820","ensembl_id":"ENSG00000182173"}},"GRch38":{"90":{"location":"17:75516060-75524739","ensembl_id":"ENSG00000182173"}}},"hgnc_date_symbol_changed":"2005-03-11"},"entity_type":"gene","entity_name":"TSEN54","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["24938831"],"evidence":["Expert list","Expert Review Red","Expert list","Expert list","Expert Review Red","Expert list"],"phenotypes":["adult-onset cerebellar ataxia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0847"],"biotype":"protein_coding","hgnc_id":"HGNC:19141","gene_name":"tau tubulin kinase 2","omim_gene":["611695"],"alias_name":null,"gene_symbol":"TTBK2","hgnc_symbol":"TTBK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:43030932-43213007","ensembl_id":"ENSG00000128881"}},"GRch38":{"90":{"location":"15:42738734-42920809","ensembl_id":"ENSG00000128881"}}},"hgnc_date_symbol_changed":"2003-05-28"},"entity_type":"gene","entity_name":"TTBK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Royal Melbourne Hospital","Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Spinocerebellar ataxia 11, 604432","Spinocerebellar ataxia 11"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["VAMP-1"],"biotype":"protein_coding","hgnc_id":"HGNC:12642","gene_name":"vesicle associated membrane protein 1","omim_gene":["185880"],"alias_name":null,"gene_symbol":"VAMP1","hgnc_symbol":"VAMP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:6571403-6580153","ensembl_id":"ENSG00000139190"}},"GRch38":{"90":{"location":"12:6462237-6470987","ensembl_id":"ENSG00000139190"}}},"hgnc_date_symbol_changed":"1990-03-14"},"entity_type":"gene","entity_name":"VAMP1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["22958904"],"evidence":["Royal Melbourne Hospital","Expert Review Amber","Expert Review Amber"],"phenotypes":["Autosomal dominant spastic ataxia 1, 108600","Spastic ataxia 1, autosomal dominant, 108600"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["founder"],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp686F2227","MGC26733"],"biotype":"protein_coding","hgnc_id":"HGNC:28385","gene_name":"von Willebrand factor A domain containing 3B","omim_gene":["614884"],"alias_name":null,"gene_symbol":"VWA3B","hgnc_symbol":"VWA3B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:98703579-98929762","ensembl_id":"ENSG00000168658"}},"GRch38":{"90":{"location":"2:98087116-98313299","ensembl_id":"ENSG00000168658"}}},"hgnc_date_symbol_changed":"2007-08-14"},"entity_type":"gene","entity_name":"VWA3B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26157035"],"evidence":["Expert Review Green","GeneReviews","Royal Melbourne Hospital","Royal Melbourne Hospital","GeneReviews"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 22 MIM#616948"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0321"],"biotype":"protein_coding","hgnc_id":"HGNC:20761","gene_name":"zinc finger FYVE-type containing 26","omim_gene":["612012"],"alias_name":["spastizin","FYVE-CENT"],"gene_symbol":"ZFYVE26","hgnc_symbol":"ZFYVE26","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:68194091-68283307","ensembl_id":"ENSG00000072121"}},"GRch38":{"90":{"location":"14:67727374-67816590","ensembl_id":"ENSG00000072121"}}},"hgnc_date_symbol_changed":"2003-04-01"},"entity_type":"gene","entity_name":"ZFYVE26","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["24367272","18394578"],"evidence":["Royal Melbourne Hospital","Expert Review Amber","Expert Review Amber","Royal Melbourne Hospital"],"phenotypes":["Autosomal recessive spastic paraplegia 15, 270700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EJM4"],"biotype":"protein_coding","hgnc_id":"HGNC:1404","gene_name":"calcium voltage-gated channel auxiliary subunit beta 4","omim_gene":["601949"],"alias_name":null,"gene_symbol":"CACNB4","hgnc_symbol":"CACNB4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:152689290-152955593","ensembl_id":"ENSG00000182389"}},"GRch38":{"90":{"location":"2:151832768-152099475","ensembl_id":"ENSG00000182389"}}},"hgnc_date_symbol_changed":"1997-04-21"},"entity_type":"gene","entity_name":"CACNB4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["10762541","27003325","9628818"],"evidence":["Victorian Clinical Genetics Services","Royal Melbourne Hospital","Expert list","Expert Review Red","Expert Review Red","Expert list","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["Episodic ataxia type 5, 613855"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:870","gene_name":"ATPase copper transporting beta","omim_gene":["606882"],"alias_name":["Wilson disease","copper pump 2","copper-transporting ATPase 2"],"gene_symbol":"ATP7B","hgnc_symbol":"ATP7B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:52506809-52585630","ensembl_id":"ENSG00000123191"}},"GRch38":{"90":{"location":"13:51930436-52012125","ensembl_id":"ENSG00000123191"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ATP7B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Red"],"phenotypes":["Wilson disease 277900","Wilson disease, 277900"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FHM2"],"biotype":"protein_coding","hgnc_id":"HGNC:800","gene_name":"ATPase Na+/K+ transporting subunit alpha 2","omim_gene":["182340"],"alias_name":["sodium/potassium-transporting ATPase subunit alpha-2","sodium pump subunit alpha-2","sodium-potassium ATPase catalytic subunit alpha-2"],"gene_symbol":"ATP1A2","hgnc_symbol":"ATP1A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:160085549-160113381","ensembl_id":"ENSG00000018625"}},"GRch38":{"90":{"location":"1:160115759-160143591","ensembl_id":"ENSG00000018625"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"ATP1A2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Red","Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Alternating hemiplegia of childhood 1, 104290","Familial hemiplegic migraine 2, 602481"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSA9947","CLN12"],"biotype":"protein_coding","hgnc_id":"HGNC:30213","gene_name":"ATPase 13A2","omim_gene":["610513"],"alias_name":null,"gene_symbol":"ATP13A2","hgnc_symbol":"ATP13A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:17312453-17338423","ensembl_id":"ENSG00000159363"}},"GRch38":{"90":{"location":"1:16985958-17011928","ensembl_id":"ENSG00000159363"}}},"hgnc_date_symbol_changed":"2005-01-12"},"entity_type":"gene","entity_name":"ATP13A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["21362476","21696388","31588715","32559632","33033738","33091395","34405108"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Kufor-Rakeb syndrome MIM#606693"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["AMN","ALDP","adrenoleukodystrophy"],"biotype":"protein_coding","hgnc_id":"HGNC:61","gene_name":"ATP binding cassette subfamily D member 1","omim_gene":["300371"],"alias_name":null,"gene_symbol":"ABCD1","hgnc_symbol":"ABCD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:152990323-153010216","ensembl_id":"ENSG00000101986"}},"GRch38":{"90":{"location":"X:153724868-153744762","ensembl_id":"ENSG00000101986"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ABCD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital","Expert list","Expert list"],"phenotypes":["Adrenoleukodystrophy MIM# 300100, XLR"],"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":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DAPLE","HkRP2","SCA40"],"biotype":"protein_coding","hgnc_id":"HGNC:19967","gene_name":"coiled-coil domain containing 88C","omim_gene":["611204"],"alias_name":["Dvl-associating protein with a high frequency of leucine residues","spinocerebellar ataxia 40"],"gene_symbol":"CCDC88C","hgnc_symbol":"CCDC88C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:91737667-91884188","ensembl_id":"ENSG00000015133"}},"GRch38":{"90":{"location":"14:91271323-91417844","ensembl_id":"ENSG00000015133"}}},"hgnc_date_symbol_changed":"2007-05-31"},"entity_type":"gene","entity_name":"CCDC88C","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["25062847","30398676"],"evidence":["Victorian Clinical Genetics Services","GeneReviews","Royal Melbourne Hospital","Expert Review Amber","Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["autosomal dominant spinocerebellar ataxia","?Spinocerebellar ataxia 40, 616053"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP564A022","ADSA"],"biotype":"protein_coding","hgnc_id":"HGNC:25358","gene_name":"ring finger protein 170","omim_gene":["614649"],"alias_name":null,"gene_symbol":"RNF170","hgnc_symbol":"RNF170","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:42704780-42752433","ensembl_id":"ENSG00000120925"}},"GRch38":{"90":{"location":"8:42849637-42897290","ensembl_id":"ENSG00000120925"}}},"hgnc_date_symbol_changed":"2005-01-26"},"entity_type":"gene","entity_name":"RNF170","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32943585","21115467"],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green"],"phenotypes":["Ataxia, sensory, 1, autosomal dominant, MIM# 608984"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["N27C7-4"],"biotype":"protein_coding","hgnc_id":"HGNC:15559","gene_name":"coiled-coil-helix-coiled-coil-helix domain containing 10","omim_gene":["615903"],"alias_name":null,"gene_symbol":"CHCHD10","hgnc_symbol":"CHCHD10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:24108021-24110630","ensembl_id":"ENSG00000250479"}},"GRch38":{"90":{"location":"22:23765834-23768443","ensembl_id":"ENSG00000250479"}}},"hgnc_date_symbol_changed":"2008-06-13"},"entity_type":"gene","entity_name":"CHCHD10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["24934289"],"evidence":["Literature","Expert Review Red","Expert Review Red","Literature"],"phenotypes":["autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CLC2","EJM6","ClC-2"],"biotype":"protein_coding","hgnc_id":"HGNC:2020","gene_name":"chloride voltage-gated channel 2","omim_gene":["600570"],"alias_name":null,"gene_symbol":"CLCN2","hgnc_symbol":"CLCN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:184063973-184079439","ensembl_id":"ENSG00000114859"}},"GRch38":{"90":{"location":"3:184346185-184361651","ensembl_id":"ENSG00000114859"}}},"hgnc_date_symbol_changed":"1994-01-28"},"entity_type":"gene","entity_name":"CLCN2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29403011","29403012","23707145"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["Leukoencephalopathy with ataxia, MIM# 615651"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2295","gene_name":"ceruloplasmin","omim_gene":["117700"],"alias_name":["ferroxidase"],"gene_symbol":"CP","hgnc_symbol":"CP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:148880197-148939842","ensembl_id":"ENSG00000047457"}},"GRch38":{"90":{"location":"3:149162410-149222055","ensembl_id":"ENSG00000047457"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301666"],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Expert Review Green","Royal Melbourne Hospital","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Aceruloplasminemia, 604290","Cerebellar ataxia, 604290","Hemosiderosis, systemic, due to aceruloplasminemia, 604290"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["C-FMS","CSFR","CD115"],"biotype":"protein_coding","hgnc_id":"HGNC:2433","gene_name":"colony stimulating factor 1 receptor","omim_gene":["164770"],"alias_name":null,"gene_symbol":"CSF1R","hgnc_symbol":"CSF1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:149432854-149492935","ensembl_id":"ENSG00000182578"}},"GRch38":{"90":{"location":"5:150053291-150113372","ensembl_id":"ENSG00000182578"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CSF1R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24198292","25563800","25935893"],"evidence":["Literature","Expert Review Green","Expert Review Green","Literature"],"phenotypes":["Leukoencephalopathy, diffuse hereditary, with spheroids MIM#221820","ataxia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ00118","FLJ13070","DNAJC5A"],"biotype":"protein_coding","hgnc_id":"HGNC:16235","gene_name":"DnaJ heat shock protein family (Hsp40) member C5","omim_gene":["611203"],"alias_name":null,"gene_symbol":"DNAJC5","hgnc_symbol":"DNAJC5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:62526518-62567384","ensembl_id":"ENSG00000101152"}},"GRch38":{"90":{"location":"20:63895182-63936031","ensembl_id":"ENSG00000101152"}}},"hgnc_date_symbol_changed":"2001-07-17"},"entity_type":"gene","entity_name":"DNAJC5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MCMT","CXXC9"],"biotype":"protein_coding","hgnc_id":"HGNC:2976","gene_name":"DNA methyltransferase 1","omim_gene":["126375"],"alias_name":null,"gene_symbol":"DNMT1","hgnc_symbol":"DNMT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:10244021-10341962","ensembl_id":"ENSG00000130816"}},"GRch38":{"90":{"location":"19:10133345-10231286","ensembl_id":"ENSG00000130816"}}},"hgnc_date_symbol_changed":"1991-06-04"},"entity_type":"gene","entity_name":"DNMT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22328086, 23904686, 24727570, 25678562, 23521649, 23365052, 21532572, 27602171, 25033457, 31984424"],"evidence":["Expert Review Green","ClinGen","Literature"],"phenotypes":["Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EEF-2"],"biotype":"protein_coding","hgnc_id":"HGNC:3214","gene_name":"eukaryotic translation elongation factor 2","omim_gene":["130610"],"alias_name":["polypeptidyl-tRNA translocase"],"gene_symbol":"EEF2","hgnc_symbol":"EEF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:3976054-3985467","ensembl_id":"ENSG00000167658"}},"GRch38":{"90":{"location":"19:3976056-3985469","ensembl_id":"ENSG00000167658"}}},"hgnc_date_symbol_changed":"1991-03-11"},"entity_type":"gene","entity_name":"EEF2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["15732118","23001565"],"evidence":["Victorian Clinical Genetics Services","GeneReviews","Royal Melbourne Hospital","Expert Review Red","Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["?Spinocerebellar ataxia 26"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CT118"],"biotype":"protein_coding","hgnc_id":"HGNC:14415","gene_name":"ELOVL fatty acid elongase 4","omim_gene":["605512"],"alias_name":["cancer/testis antigen 118"],"gene_symbol":"ELOVL4","hgnc_symbol":"ELOVL4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:80624529-80657297","ensembl_id":"ENSG00000118402"}},"GRch38":{"90":{"location":"6:79914812-79947580","ensembl_id":"ENSG00000118402"}}},"hgnc_date_symbol_changed":"2001-01-18"},"entity_type":"gene","entity_name":"ELOVL4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital","Expert Review Green","Expert Review Green","Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Spinocerebellar ataxia 34 133190","Spinocerebellar ataxia 34, 133190"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HELO1","dJ483K16.1"],"biotype":"protein_coding","hgnc_id":"HGNC:21308","gene_name":"ELOVL fatty acid elongase 5","omim_gene":["611805"],"alias_name":null,"gene_symbol":"ELOVL5","hgnc_symbol":"ELOVL5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:53132196-53213947","ensembl_id":"ENSG00000012660"}},"GRch38":{"90":{"location":"6:53267398-53349179","ensembl_id":"ENSG00000012660"}}},"hgnc_date_symbol_changed":"2003-06-12"},"entity_type":"gene","entity_name":"ELOVL5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25065913"],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green"],"phenotypes":["Spinocerebellar ataxia 38, MIM#615957"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RAD1","FANCQ"],"biotype":"protein_coding","hgnc_id":"HGNC:3436","gene_name":"ERCC excision repair 4, endonuclease catalytic subunit","omim_gene":["133520"],"alias_name":["xeroderma pigmentosum, complementation group F"],"gene_symbol":"ERCC4","hgnc_symbol":"ERCC4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:14014014-14046202","ensembl_id":"ENSG00000175595"}},"GRch38":{"90":{"location":"16:13920157-13952345","ensembl_id":"ENSG00000175595"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ERCC4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29403087","28431612","29892709"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Cerebellar ataxia","Xeroderma pigmentosum, group F, MIM#\t278760"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MEGF1","CDHF8","HFAT2","CDHR9"],"biotype":"protein_coding","hgnc_id":"HGNC:3596","gene_name":"FAT atypical cadherin 2","omim_gene":["604269"],"alias_name":["cadherin-related family member 9"],"gene_symbol":"FAT2","hgnc_symbol":"FAT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:150883654-150948505","ensembl_id":"ENSG00000086570"}},"GRch38":{"90":{"location":"5:151504093-151568944","ensembl_id":"ENSG00000086570"}}},"hgnc_date_symbol_changed":"1998-03-25"},"entity_type":"gene","entity_name":"FAT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29053796","33884300"],"evidence":["GeneReviews","Royal Melbourne Hospital","Expert list","Expert list","Expert Review Green","Expert Review Green","Expert Review Green","Expert Review Green","Expert list","Expert list","Royal Melbourne Hospital","GeneReviews"],"phenotypes":["Spinocerebellar ataxia 45, MIM#617769"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20142","dJ776P7.1","MACROD3"],"biotype":"protein_coding","hgnc_id":"HGNC:18010","gene_name":"ganglioside induced differentiation associated protein 2","omim_gene":null,"alias_name":null,"gene_symbol":"GDAP2","hgnc_symbol":"GDAP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:118406107-118472253","ensembl_id":"ENSG00000196505"}},"GRch38":{"90":{"location":"1:117863485-117929630","ensembl_id":"ENSG00000196505"}}},"hgnc_date_symbol_changed":"2002-01-16"},"entity_type":"gene","entity_name":"GDAP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital","Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Autosomal recessive spinocerebellar ataxia"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ45472"],"biotype":"protein_coding","hgnc_id":"HGNC:4235","gene_name":"glial fibrillary acidic protein","omim_gene":["137780"],"alias_name":["intermediate filament protein"],"gene_symbol":"GFAP","hgnc_symbol":"GFAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42982376-42994305","ensembl_id":"ENSG00000131095"}},"GRch38":{"90":{"location":"17:44903161-44916937","ensembl_id":"ENSG00000131095"}}},"hgnc_date_symbol_changed":"1989-12-07"},"entity_type":"gene","entity_name":"GFAP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Alexander disease, 203450","Autosomal Dominant Ataxia","Alexander disease"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PC4","TIS7"],"biotype":"protein_coding","hgnc_id":"HGNC:5456","gene_name":"interferon related developmental regulator 1","omim_gene":["603502"],"alias_name":null,"gene_symbol":"IFRD1","hgnc_symbol":"IFRD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:112063023-112121072","ensembl_id":"ENSG00000006652"}},"GRch38":{"90":{"location":"7:112422968-112481017","ensembl_id":"ENSG00000006652"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"IFRD1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["29362493","28601596","19409521"],"evidence":["Literature","Expert Review Red","Expert Review","Expert Review Red","Expert Review Red","Expert Review","Expert Review Red","Literature"],"phenotypes":["Hereditary spastic paraplegia MONDO:0019064, IFRD1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8775","gene_name":"phosphodiesterase 1B","omim_gene":["171891"],"alias_name":null,"gene_symbol":"PDE1B","hgnc_symbol":"PDE1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:54943134-54973023","ensembl_id":"ENSG00000123360"}},"GRch38":{"90":{"location":"12:54549350-54579239","ensembl_id":"ENSG00000123360"}}},"hgnc_date_symbol_changed":"1990-01-02"},"entity_type":"gene","entity_name":"PDE1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40492975"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Complex neurodevelopmental disorder with motor features, MONDO:0100516, PDE1B-related"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["BRI","E25B","E3-16","BRICD2B","BRI2"],"biotype":"protein_coding","hgnc_id":"HGNC:6174","gene_name":"integral membrane protein 2B","omim_gene":["603904"],"alias_name":["BRICHOS domain containing 2B"],"gene_symbol":"ITM2B","hgnc_symbol":"ITM2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:48807294-48837063","ensembl_id":"ENSG00000136156"}},"GRch38":{"90":{"location":"13:48233158-48270357","ensembl_id":"ENSG00000136156"}}},"hgnc_date_symbol_changed":"1999-04-15"},"entity_type":"gene","entity_name":"ITM2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10391242","10781099","33814452"],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Cerebellar ataxia, cataract, deafness, and dementia or psychosis","Danish familial dementia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6637","gene_name":"lamin B1","omim_gene":["150340"],"alias_name":null,"gene_symbol":"LMNB1","hgnc_symbol":"LMNB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:126112315-126172712","ensembl_id":"ENSG00000113368"}},"GRch38":{"90":{"location":"5:126776623-126837020","ensembl_id":"ENSG00000113368"}}},"hgnc_date_symbol_changed":"1995-03-28"},"entity_type":"gene","entity_name":"LMNB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31695592"],"evidence":["Victorian Clinical Genetics Services","Expert list","Expert Review Green","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Leukodystrophy, adult-onset, autosomal dominant MIM#169500"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV"],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CALLA","CD10","NEP"],"biotype":"protein_coding","hgnc_id":"HGNC:7154","gene_name":"membrane metalloendopeptidase","omim_gene":["120520"],"alias_name":["neutral endopeptidase","enkephalinase","neprilysin"],"gene_symbol":"MME","hgnc_symbol":"MME","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:154741913-154901497","ensembl_id":"ENSG00000196549"}},"GRch38":{"90":{"location":"3:155024124-155183729","ensembl_id":"ENSG00000196549"}}},"hgnc_date_symbol_changed":"1989-05-15"},"entity_type":"gene","entity_name":"MME","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["27583304"],"evidence":["Victorian Clinical Genetics Services","Expert Review Red","GeneReviews","Royal Melbourne Hospital","Expert Review Green","Royal Melbourne Hospital","GeneReviews","Expert Review Red"],"phenotypes":["?Spinocerebellar ataxia type 43, 617018"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ARC","NOP30","MYP","CARD2"],"biotype":"protein_coding","hgnc_id":"HGNC:7869","gene_name":"nucleolar protein 3","omim_gene":["605235"],"alias_name":null,"gene_symbol":"NOL3","hgnc_symbol":"NOL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:67204057-67209643","ensembl_id":"ENSG00000140939"}},"GRch38":{"90":{"location":"16:67170154-67175735","ensembl_id":"ENSG00000140939"}}},"hgnc_date_symbol_changed":"1999-01-13"},"entity_type":"gene","entity_name":"NOL3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22926851"],"evidence":["Royal Melbourne Hospital","Expert Review Red","Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Myoclonus, familial cortical"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["trnE"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7479","gene_name":"mitochondrially encoded tRNA glutamic acid","omim_gene":["590025"],"alias_name":null,"gene_symbol":"MT-TE","hgnc_symbol":"MT-TE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:14674-14742","ensembl_id":"ENSG00000210194"}},"GRch38":{"90":{"location":"MT:14674-14742","ensembl_id":"ENSG00000210194"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["8155739","21194154","17715279","23334599","7726155","7726154","9353617","15048886","15670724","23847141","23334599","17266923","17056256"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TE-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7952","gene_name":"neuronal pentraxin 1","omim_gene":["602367"],"alias_name":null,"gene_symbol":"NPTX1","hgnc_symbol":"NPTX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:78440948-78451643","ensembl_id":"ENSG00000171246"}},"GRch38":{"90":{"location":"17:80467148-80477843","ensembl_id":"ENSG00000171246"}}},"hgnc_date_symbol_changed":"1995-05-12"},"entity_type":"gene","entity_name":"NPTX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34788392","35288776","35285082","35560436"],"evidence":["Literature","Expert Review Green","Expert Review Green","Literature"],"phenotypes":["cerebellar ataxia MONDO#0000437, NPTX1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["COX2","CO2"],"biotype":"protein_coding","hgnc_id":"HGNC:7421","gene_name":"mitochondrially encoded cytochrome c oxidase II","omim_gene":["516040"],"alias_name":null,"gene_symbol":"MT-CO2","hgnc_symbol":"MT-CO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:7586-8269","ensembl_id":"ENSG00000198712"}},"GRch38":{"90":{"location":"MT:7586-8269","ensembl_id":"ENSG00000198712"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-CO2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34325999","30315213","28521807","10205264","10486321","11558799","18245391","23616164","31167410","23965802","30030519"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA2005","FLJ39885"],"biotype":"protein_coding","hgnc_id":"HGNC:1349","gene_name":"sterile alpha motif domain containing 9 like","omim_gene":["611170"],"alias_name":null,"gene_symbol":"SAMD9L","hgnc_symbol":"SAMD9L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92759368-92777682","ensembl_id":"ENSG00000177409"}},"GRch38":{"90":{"location":"7:93130055-93148369","ensembl_id":"ENSG00000177409"}}},"hgnc_date_symbol_changed":"2005-04-26"},"entity_type":"gene","entity_name":"SAMD9L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["35310830","33884299","28570036"],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green"],"phenotypes":["Spinocerebellar ataxia 49, MIM# 619806","Ataxia-pancytopaenia syndrome, MIM# 159550"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FATP3","MGC4365","ACSVL3"],"biotype":"protein_coding","hgnc_id":"HGNC:10997","gene_name":"solute carrier family 27 member 3","omim_gene":["604193"],"alias_name":null,"gene_symbol":"SLC27A3","hgnc_symbol":"SLC27A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:153746830-153752633","ensembl_id":"ENSG00000143554"}},"GRch38":{"90":{"location":"1:153774354-153780157","ensembl_id":"ENSG00000143554"}}},"hgnc_date_symbol_changed":"1999-08-20"},"entity_type":"gene","entity_name":"SLC27A3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 41054338"],"evidence":["Expert Review Red","Literature","Literature"],"phenotypes":["Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["COB","CYTB","UQCR3"],"biotype":"protein_coding","hgnc_id":"HGNC:7427","gene_name":"mitochondrially encoded cytochrome b","omim_gene":["516020"],"alias_name":null,"gene_symbol":"MT-CYB","hgnc_symbol":"MT-CYB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:14747-15887","ensembl_id":"ENSG00000198727"}},"GRch38":{"90":{"location":"MT:14747-15887","ensembl_id":"ENSG00000198727"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-CYB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39858655","34804306","26937408"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CYB-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Ckb1","Ckb2"],"biotype":"protein_coding","hgnc_id":"HGNC:2460","gene_name":"casein kinase 2 beta","omim_gene":["115441"],"alias_name":null,"gene_symbol":"CSNK2B","hgnc_symbol":"CSNK2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31633013-31638120","ensembl_id":"ENSG00000204435"}},"GRch38":{"90":{"location":"6:31665236-31670343","ensembl_id":"ENSG00000204435"}}},"hgnc_date_symbol_changed":"1990-05-23"},"entity_type":"gene","entity_name":"CSNK2B","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["PMID: 34041744"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:33154","gene_name":"extracellular leucine rich repeat and fibronectin type III domain containing 1","omim_gene":["614964"],"alias_name":null,"gene_symbol":"ELFN1","hgnc_symbol":"ELFN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:1727755-1787590","ensembl_id":"ENSG00000225968"}},"GRch38":{"90":{"location":"7:1688119-1747954","ensembl_id":"ENSG00000225968"}}},"hgnc_date_symbol_changed":"2011-10-27"},"entity_type":"gene","entity_name":"ELFN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID:40576023"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Dursun-Ozgul neurodevelopmental syndrome, MIM# 621344"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["A1","PO-GA","RFC140","MHCBFB"],"biotype":"protein_coding","hgnc_id":"HGNC:9969","gene_name":"replication factor C subunit 1","omim_gene":["102579"],"alias_name":null,"gene_symbol":"RFC1","hgnc_symbol":"RFC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:39289076-39367995","ensembl_id":"ENSG00000035928"}},"GRch38":{"90":{"location":"4:39287456-39366375","ensembl_id":"ENSG00000035928"}}},"hgnc_date_symbol_changed":"1994-10-14"},"entity_type":"gene","entity_name":"RFC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30926972","33103729","35883251","36478048","36289003"],"evidence":["Literature","Expert list","Expert Review Green","Expert Review Green","Expert list","Literature"],"phenotypes":["Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["trnH"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7487","gene_name":"mitochondrially encoded tRNA histidine","omim_gene":["590040"],"alias_name":null,"gene_symbol":"MT-TH","hgnc_symbol":"MT-TH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:12138-12206","ensembl_id":"ENSG00000210176"}},"GRch38":{"90":{"location":"MT:12138-12206","ensembl_id":"ENSG00000210176"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["12682337","14967777","15111688","21704194","21931169","23696415","35092007","24920829","21704194"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TH-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ATP6","ATPase-6","Su6m"],"biotype":"protein_coding","hgnc_id":"HGNC:7414","gene_name":"mitochondrially encoded ATP synthase 6","omim_gene":["516060"],"alias_name":null,"gene_symbol":"MT-ATP6","hgnc_symbol":"MT-ATP6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:8527-9207","ensembl_id":"ENSG00000198899"}},"GRch38":{"90":{"location":"MT:8527-9207","ensembl_id":"ENSG00000198899"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-ATP6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40112238"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9777","gene_name":"RAB3A, member RAS oncogene family","omim_gene":["179490"],"alias_name":["RAS-associated protein RAB3A"],"gene_symbol":"RAB3A","hgnc_symbol":"RAB3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:18307594-18314884","ensembl_id":"ENSG00000105649"}},"GRch38":{"90":{"location":"19:18196784-18204074","ensembl_id":"ENSG00000105649"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"RAB3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40166812"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spinocerebellar ataxia 52, MIM# 621535"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["trnW"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7501","gene_name":"mitochondrially encoded tRNA tryptophan","omim_gene":["590095"],"alias_name":null,"gene_symbol":"MT-TW","hgnc_symbol":"MT-TW","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:5512-5579","ensembl_id":"ENSG00000210117"}},"GRch38":{"90":{"location":"MT:5512-5579","ensembl_id":"ENSG00000210117"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TW","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["7695240","9266739","9673981","12776230","15054399","18337306","19809478","26524491","23841600","30937556"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TW-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CGI-40"],"biotype":"protein_coding","hgnc_id":"HGNC:24272","gene_name":"SID1 transmembrane family member 2","omim_gene":["617551"],"alias_name":null,"gene_symbol":"SIDT2","hgnc_symbol":"SIDT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:117049449-117068160","ensembl_id":"ENSG00000149577"}},"GRch38":{"90":{"location":"11:117178733-117197445","ensembl_id":"ENSG00000149577"}}},"hgnc_date_symbol_changed":"2004-08-20"},"entity_type":"gene","entity_name":"SIDT2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 40541391"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Lysosomal storage disease, MONDO:0002561, SIDT2-related"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1032","Munc13-1"],"biotype":"protein_coding","hgnc_id":"HGNC:23150","gene_name":"unc-13 homolog A","omim_gene":["609894"],"alias_name":null,"gene_symbol":"UNC13A","hgnc_symbol":"UNC13A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:17712137-17799401","ensembl_id":"ENSG00000130477"}},"GRch38":{"90":{"location":"19:17601328-17688365","ensembl_id":"ENSG00000130477"}}},"hgnc_date_symbol_changed":"2003-10-16"},"entity_type":"gene","entity_name":"UNC13A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["27648472","28192369","41125872"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ND4","NAD4"],"biotype":"protein_coding","hgnc_id":"HGNC:7459","gene_name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4","omim_gene":["516003"],"alias_name":["complex I ND4 subunit","NADH-ubiquinone oxidoreductase chain 4"],"gene_symbol":"MT-ND4","hgnc_symbol":"MT-ND4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:10760-12137","ensembl_id":"ENSG00000198886"}},"GRch38":{"90":{"location":"MT:10760-12137","ensembl_id":"ENSG00000198886"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-ND4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["12707444","16120329","15576045","20502985","27761019","32445240","32659360","3201231"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-ND4-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PUMH1","KIAA0099"],"biotype":"protein_coding","hgnc_id":"HGNC:14957","gene_name":"pumilio RNA binding family member 1","omim_gene":["607204"],"alias_name":null,"gene_symbol":"PUM1","hgnc_symbol":"PUM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:31404353-31538838","ensembl_id":"ENSG00000134644"}},"GRch38":{"90":{"location":"1:30931506-31065991","ensembl_id":"ENSG00000134644"}}},"hgnc_date_symbol_changed":"2001-03-27"},"entity_type":"gene","entity_name":"PUM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Royal Melbourne Hospital","Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Spinocerebellar ataxia 47, 617931"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FP","SDHF"],"biotype":"protein_coding","hgnc_id":"HGNC:10680","gene_name":"succinate dehydrogenase complex flavoprotein subunit A","omim_gene":["600857"],"alias_name":["succinate dehydrogenase [ubiquinone] flavoprotein subunit","flavoprotein subunit of complex II"],"gene_symbol":"SDHA","hgnc_symbol":"SDHA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:218356-256815","ensembl_id":"ENSG00000073578"}},"GRch38":{"90":{"location":"5:218241-256700","ensembl_id":"ENSG00000073578"}}},"hgnc_date_symbol_changed":"1995-10-24"},"entity_type":"gene","entity_name":"SDHA","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["10976639","27683074"],"evidence":["Expert list","Expert Review Amber","Expert Review Amber","Expert list"],"phenotypes":["Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SLA/LP","SLA"],"biotype":"protein_coding","hgnc_id":"HGNC:30605","gene_name":"Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase","omim_gene":["613009"],"alias_name":["soluble liver antigen/liver pancreas antigen"],"gene_symbol":"SEPSECS","hgnc_symbol":"SEPSECS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:25121627-25162204","ensembl_id":"ENSG00000109618"}},"GRch38":{"90":{"location":"4:25120014-25160442","ensembl_id":"ENSG00000109618"}}},"hgnc_date_symbol_changed":"2007-05-01"},"entity_type":"gene","entity_name":"SEPSECS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["29464431"],"evidence":["Victorian Clinical Genetics Services","Expert list","Expert Review Red","Expert Review Red","Expert list"],"phenotypes":["Pontocerebellar hypoplasia type 2D, 613811","cerebellar ataxia and cognitive impairment"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8729","gene_name":"proliferating cell nuclear antigen","omim_gene":["176740"],"alias_name":null,"gene_symbol":"PCNA","hgnc_symbol":"PCNA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:5095599-5107272","ensembl_id":"ENSG00000132646"}},"GRch38":{"90":{"location":"20:5114953-5126626","ensembl_id":"ENSG00000132646"}}},"hgnc_date_symbol_changed":"1990-01-15"},"entity_type":"gene","entity_name":"PCNA","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["24911150, 33426167, 36990216"],"evidence":["Expert Review Amber","ClinGen"],"phenotypes":["hereditary ataxia MONDO:0100309"],"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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CMTX5","DFNX1"],"biotype":"protein_coding","hgnc_id":"HGNC:9462","gene_name":"phosphoribosyl pyrophosphate synthetase 1","omim_gene":["311850"],"alias_name":["PRS I","ribose-phosphate diphosphokinase 1"],"gene_symbol":"PRPS1","hgnc_symbol":"PRPS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:106871737-106894256","ensembl_id":"ENSG00000147224"}},"GRch38":{"90":{"location":"X:107628424-107651026","ensembl_id":"ENSG00000147224"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PRPS1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33898739","28967191"],"evidence":["Literature","Expert Review Amber","Expert Review Amber","Literature"],"phenotypes":["Adult-onset progressive ataxia, congenital strabismus, infantile-onset hearing loss, retinal dystrophy"],"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":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null}]}