{"count":35557,"next":"https://panelapp-aus.org/api/v1/genes/?format=json&page=213","previous":"https://panelapp-aus.org/api/v1/genes/?format=json&page=211","results":[{"gene_data":{"alias":["U2AF65"],"biotype":"protein_coding","hgnc_id":"HGNC:23156","gene_name":"U2 small nuclear RNA auxiliary factor 2","omim_gene":["191318"],"alias_name":["U2 small nuclear ribonucleoprotein auxiliary factor (65kD)","splicing factor U2AF 65 kD subunit","U2 snRNP auxiliary factor large subunit"],"gene_symbol":"U2AF2","hgnc_symbol":"U2AF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:56165512-56186081","ensembl_id":"ENSG00000063244"}},"GRch38":{"90":{"location":"19:55654146-55674715","ensembl_id":"ENSG00000063244"}}},"hgnc_date_symbol_changed":"2003-10-28"},"entity_type":"gene","entity_name":"U2AF2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["34112922","37092751","36747105","37134193"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["UGTrel4"],"biotype":"protein_coding","hgnc_id":"HGNC:16872","gene_name":"solute carrier family 35 member B2","omim_gene":["610788"],"alias_name":null,"gene_symbol":"SLC35B2","hgnc_symbol":"SLC35B2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:44221833-44225291","ensembl_id":"ENSG00000157593"}},"GRch38":{"90":{"location":"6:44254096-44257890","ensembl_id":"ENSG00000157593"}}},"hgnc_date_symbol_changed":"2003-04-10"},"entity_type":"gene","entity_name":"SLC35B2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["35325049"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Leukodystrophy, MONDO:0019046, SLC35B2-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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:3607","gene_name":"fructose-bisphosphatase 2","omim_gene":["603027"],"alias_name":null,"gene_symbol":"FBP2","hgnc_symbol":"FBP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:97321002-97356075","ensembl_id":"ENSG00000130957"}},"GRch38":{"90":{"location":"9:94558720-94593793","ensembl_id":"ENSG00000130957"}}},"hgnc_date_symbol_changed":"1998-12-09"},"entity_type":"gene","entity_name":"FBP2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33977262"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Leukodystrophy, childhood-onset, remitting, MIM# \t619864"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["CI-24k"],"biotype":"protein_coding","hgnc_id":"HGNC:7717","gene_name":"NADH:ubiquinone oxidoreductase core subunit V2","omim_gene":["600532"],"alias_name":["complex I 24kDa subunit","NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"],"gene_symbol":"NDUFV2","hgnc_symbol":"NDUFV2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:9102628-9134343","ensembl_id":"ENSG00000178127"}},"GRch38":{"90":{"location":"18:9102630-9134345","ensembl_id":"ENSG00000178127"}}},"hgnc_date_symbol_changed":"1994-09-07"},"entity_type":"gene","entity_name":"NDUFV2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33811136"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 7\t(MIM#618229)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["DKFZP566N034","SV31"],"biotype":"protein_coding","hgnc_id":"HGNC:25380","gene_name":"transmembrane protein 163","omim_gene":null,"alias_name":null,"gene_symbol":"TMEM163","hgnc_symbol":"TMEM163","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:135213330-135476570","ensembl_id":"ENSG00000152128"}},"GRch38":{"90":{"location":"2:134455759-134719000","ensembl_id":"ENSG00000152128"}}},"hgnc_date_symbol_changed":"2006-07-04"},"entity_type":"gene","entity_name":"TMEM163","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 35953447"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hypomyelinating leukodystrophy, MONDO:0019046"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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:7881","gene_name":"notch 1","omim_gene":["190198"],"alias_name":null,"gene_symbol":"NOTCH1","hgnc_symbol":"NOTCH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139388896-139440314","ensembl_id":"ENSG00000148400"}},"GRch38":{"90":{"location":"9:136494444-136545862","ensembl_id":"ENSG00000148400"}}},"hgnc_date_symbol_changed":"1992-02-13"},"entity_type":"gene","entity_name":"NOTCH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["35947102"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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:6817","gene_name":"mal, T-cell differentiation protein","omim_gene":["188860"],"alias_name":["MyD88-adapter-like"],"gene_symbol":"MAL","hgnc_symbol":"MAL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:95691422-95719737","ensembl_id":"ENSG00000172005"}},"GRch38":{"90":{"location":"2:95025677-95053996","ensembl_id":"ENSG00000172005"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"MAL","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["35217805"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Leukodystrophy, hypomyelinating, 28, MIM#  620978"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["IFP53"],"biotype":"protein_coding","hgnc_id":"HGNC:12729","gene_name":"tryptophanyl-tRNA synthetase","omim_gene":["191050"],"alias_name":["tryptophan tRNA ligase 1, cytoplasmic"],"gene_symbol":"WARS","hgnc_symbol":"WARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:100800125-100843142","ensembl_id":"ENSG00000140105"}},"GRch38":{"90":{"location":"14:100333788-100376805","ensembl_id":"ENSG00000140105"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"WARS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 35815345 PMID: 35790048"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities,MIM# 620317"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["NTPDase-1","ATPDase","SPG64"],"biotype":"protein_coding","hgnc_id":"HGNC:3363","gene_name":"ectonucleoside triphosphate diphosphohydrolase 1","omim_gene":["601752"],"alias_name":null,"gene_symbol":"ENTPD1","hgnc_symbol":"ENTPD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:97471536-97637023","ensembl_id":"ENSG00000138185"}},"GRch38":{"90":{"location":"10:95711779-95869695","ensembl_id":"ENSG00000138185"}}},"hgnc_date_symbol_changed":"1994-12-09"},"entity_type":"gene","entity_name":"ENTPD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35471564"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spastic paraplegia 64, autosomal recessive, MIM# 615683"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["GroEL","HSP60"],"biotype":"protein_coding","hgnc_id":"HGNC:5261","gene_name":"heat shock protein family D (Hsp60) member 1","omim_gene":["118190"],"alias_name":null,"gene_symbol":"HSPD1","hgnc_symbol":"HSPD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:198351305-198381461","ensembl_id":"ENSG00000144381"}},"GRch38":{"90":{"location":"2:197486581-197516737","ensembl_id":"ENSG00000144381"}}},"hgnc_date_symbol_changed":"1991-07-19"},"entity_type":"gene","entity_name":"HSPD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18571143","27405012","32532876","28377887","27405012"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Spastic paraplegia 13, autosomal dominant, 605280","Leukodystrophy, hypomyelinating, 4, 612233"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["FLJ20695"],"biotype":"protein_coding","hgnc_id":"HGNC:22965","gene_name":"peroxisomal biogenesis factor 26","omim_gene":["608666"],"alias_name":null,"gene_symbol":"PEX26","hgnc_symbol":"PEX26","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:18560689-18613905","ensembl_id":"ENSG00000215193"}},"GRch38":{"90":{"location":"22:18077920-18131138","ensembl_id":"ENSG00000215193"}}},"hgnc_date_symbol_changed":"2003-08-05"},"entity_type":"gene","entity_name":"PEX26","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Peroxisome biogenesis disorder 7A (Zellweger), 614872","Peroxisome biogenesis disorder 7B, 614873"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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:8858","gene_name":"peroxisomal biogenesis factor 3","omim_gene":["603164"],"alias_name":null,"gene_symbol":"PEX3","hgnc_symbol":"PEX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:143771944-143811147","ensembl_id":"ENSG00000034693"}},"GRch38":{"90":{"location":"6:143450807-143490010","ensembl_id":"ENSG00000034693"}}},"hgnc_date_symbol_changed":"1998-10-21"},"entity_type":"gene","entity_name":"PEX3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Peroxisome biogenesis disorder 10A (Zellweger), 614882","?Peroxisome biogenesis disorder 10B, 617370"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["PTS1R"],"biotype":"protein_coding","hgnc_id":"HGNC:9719","gene_name":"peroxisomal biogenesis factor 5","omim_gene":["600414"],"alias_name":["peroxisomal targeting signal 1 receptor","peroxisomal import receptor 5"],"gene_symbol":"PEX5","hgnc_symbol":"PEX5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:7341281-7371170","ensembl_id":"ENSG00000139197"}},"GRch38":{"90":{"location":"12:7188685-7218574","ensembl_id":"ENSG00000139197"}}},"hgnc_date_symbol_changed":"2004-03-19"},"entity_type":"gene","entity_name":"PEX5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Peroxisome biogenesis disorder 2A (Zellweger), 214110","Peroxisome biogenesis disorder 2B, 202370"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["PXAAA1","PAF-2"],"biotype":"protein_coding","hgnc_id":"HGNC:8859","gene_name":"peroxisomal biogenesis factor 6","omim_gene":["601498"],"alias_name":null,"gene_symbol":"PEX6","hgnc_symbol":"PEX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:42931608-42946958","ensembl_id":"ENSG00000124587"}},"GRch38":{"90":{"location":"6:42963870-42979220","ensembl_id":"ENSG00000124587"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PEX6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Peroxisome biogenesis disorder 4A (Zellweger), 614862","Peroxisome biogenesis disorder 4B, 614863"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["MFE-2","DBP","SDR8C1"],"biotype":"protein_coding","hgnc_id":"HGNC:5213","gene_name":"hydroxysteroid 17-beta dehydrogenase 4","omim_gene":["601860"],"alias_name":["17beta-estradiol dehydrogenase type IV","peroxisomal multifunctional protein 2","17-beta-HSD IV","17-beta-hydroxysteroid dehydrogenase 4","D-bifunctional protein, peroxisomal","D-3-hydroxyacyl-CoA dehydratase","3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase","beta-keto-reductase","beta-hydroxyacyl dehydrogenase","short chain dehydrogenase/reductase family 8C, member 1"],"gene_symbol":"HSD17B4","hgnc_symbol":"HSD17B4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:118788138-118972894","ensembl_id":"ENSG00000133835"}},"GRch38":{"90":{"location":"5:119452443-119637199","ensembl_id":"ENSG00000133835"}}},"hgnc_date_symbol_changed":"1994-09-14"},"entity_type":"gene","entity_name":"HSD17B4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["General Leukodystrophy & Mitochondrial Leukoencephalopathy","Peroxisome-Associated Disorders & Zellweger Syndrome","D-bifunctional protein deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["PTS2R","RD"],"biotype":"protein_coding","hgnc_id":"HGNC:8860","gene_name":"peroxisomal biogenesis factor 7","omim_gene":["601757"],"alias_name":["Refsum disease"],"gene_symbol":"PEX7","hgnc_symbol":"PEX7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:137143717-137235075","ensembl_id":"ENSG00000112357"}},"GRch38":{"90":{"location":"6:136822564-136913937","ensembl_id":"ENSG00000112357"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PEX7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Peroxisome biogenesis disorder 9B, 614879"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["HSPC138","HSPC179","OPI10"],"biotype":"protein_coding","hgnc_id":"HGNC:26938","gene_name":"Hikeshi, heat shock protein nuclear import factor","omim_gene":["614908"],"alias_name":null,"gene_symbol":"HIKESHI","hgnc_symbol":"HIKESHI","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:86013253-86056969","ensembl_id":"ENSG00000149196"}},"GRch38":{"90":{"location":"11:86302211-86345931","ensembl_id":"ENSG00000149196"}}},"hgnc_date_symbol_changed":"2016-06-07"},"entity_type":"gene","entity_name":"HIKESHI","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list","Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Leukodystrophy, hypomyelinating, 13, MIM#616881"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":[],"evidence":["Expert Review Green","Royal Melbourne Hospital","Expert Review Green","Australian Genomcis Health Alliance Leukodystrophy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Leukodystrophy, hypomyelinating 16, MIM#617964"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["EFGM","GFM","EGF1"],"biotype":"protein_coding","hgnc_id":"HGNC:13780","gene_name":"G elongation factor mitochondrial 1","omim_gene":["606639"],"alias_name":null,"gene_symbol":"GFM1","hgnc_symbol":"GFM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:158362067-158410364","ensembl_id":"ENSG00000168827"}},"GRch38":{"90":{"location":"3:158644278-158692575","ensembl_id":"ENSG00000168827"}}},"hgnc_date_symbol_changed":"2004-11-25"},"entity_type":"gene","entity_name":"GFM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Combined oxidative phosphorylation deficiency 1","Mitochondrial Leukoencephalopathy","General Leukodystrophy & Mitochondrial Leukoencephalopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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:4006","gene_name":"alpha-L-fucosidase 1","omim_gene":["612280"],"alias_name":["α-L-fucosidase 1","tissue fucosidase","a-L-fucosidase 1"],"gene_symbol":"FUCA1","hgnc_symbol":"FUCA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:24171567-24194784","ensembl_id":"ENSG00000179163"}},"GRch38":{"90":{"location":"1:23845077-23868294","ensembl_id":"ENSG00000179163"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"FUCA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Fucosidosis","General Leukodystrophy & Mitochondrial Leukoencephalopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["PALMCOX"],"biotype":"protein_coding","hgnc_id":"HGNC:119","gene_name":"acyl-CoA oxidase 1","omim_gene":["609751"],"alias_name":["palmitoyl-CoA oxidase"],"gene_symbol":"ACOX1","hgnc_symbol":"ACOX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:73937588-73975515","ensembl_id":"ENSG00000161533"}},"GRch38":{"90":{"location":"17:75941507-75979363","ensembl_id":"ENSG00000161533"}}},"hgnc_date_symbol_changed":"1994-02-11"},"entity_type":"gene","entity_name":"ACOX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470","Mitchell syndrome, MIM# 618960"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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:3791","gene_name":"folate receptor 1","omim_gene":["136430"],"alias_name":["folate receptor alpha"],"gene_symbol":"FOLR1","hgnc_symbol":"FOLR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:71900602-71907345","ensembl_id":"ENSG00000110195"}},"GRch38":{"90":{"location":"11:72189558-72196323","ensembl_id":"ENSG00000110195"}}},"hgnc_date_symbol_changed":"1991-08-08"},"entity_type":"gene","entity_name":"FOLR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Neurodegeneration due to cerebral folate transport deficiency 613068"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["AIF","CMTX4"],"biotype":"protein_coding","hgnc_id":"HGNC:8768","gene_name":"apoptosis inducing factor mitochondria associated 1","omim_gene":["300169"],"alias_name":null,"gene_symbol":"AIFM1","hgnc_symbol":"AIFM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:129263337-129299861","ensembl_id":"ENSG00000156709"}},"GRch38":{"90":{"location":"X:130129362-130165887","ensembl_id":"ENSG00000156709"}}},"hgnc_date_symbol_changed":"2006-11-16"},"entity_type":"gene","entity_name":"AIFM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28842795","27102849"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["EMAPII","EMAP-2","p43"],"biotype":"protein_coding","hgnc_id":"HGNC:10648","gene_name":"aminoacyl tRNA synthetase complex interacting multifunctional protein 1","omim_gene":["603605"],"alias_name":["EMAP II","ARS-interacting multifunctional protein 1"],"gene_symbol":"AIMP1","hgnc_symbol":"AIMP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:107236701-107270383","ensembl_id":"ENSG00000164022"}},"GRch38":{"90":{"location":"4:106315544-106349226","ensembl_id":"ENSG00000164022"}}},"hgnc_date_symbol_changed":"2009-05-20"},"entity_type":"gene","entity_name":"AIMP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Leukodystrophy, hypomyelinating, 3 260600"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["DRCTNNB1A","HCC","HYCC1","hyccin"],"biotype":"protein_coding","hgnc_id":"HGNC:24587","gene_name":"family with sequence similarity 126 member A","omim_gene":["610531"],"alias_name":["down regulated by Ctnnb1, a"],"gene_symbol":"FAM126A","hgnc_symbol":"FAM126A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:22980878-23053749","ensembl_id":"ENSG00000122591"}},"GRch38":{"90":{"location":"7:22889371-23014130","ensembl_id":"ENSG00000122591"}}},"hgnc_date_symbol_changed":"2006-09-06"},"entity_type":"gene","entity_name":"FAM126A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Hypomyelination and Congenital Cataract","Leukodystrophy, hypomyelinating, 5, 610532"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["FAAH","FLJ25287"],"biotype":"protein_coding","hgnc_id":"HGNC:21197","gene_name":"fatty acid 2-hydroxylase","omim_gene":["611026"],"alias_name":["fatty acid hydroxylase"],"gene_symbol":"FA2H","hgnc_symbol":"FA2H","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:74746853-74808729","ensembl_id":"ENSG00000103089"}},"GRch38":{"90":{"location":"16:74712955-74774831","ensembl_id":"ENSG00000103089"}}},"hgnc_date_symbol_changed":"2003-10-31"},"entity_type":"gene","entity_name":"FA2H","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31837835","30446360","22965561","21592092"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Spastic paraplegia 35, autosomal recessive, MIM#612319"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["ETFQO"],"biotype":"protein_coding","hgnc_id":"HGNC:3483","gene_name":"electron transfer flavoprotein dehydrogenase","omim_gene":["231675"],"alias_name":null,"gene_symbol":"ETFDH","hgnc_symbol":"ETFDH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:159593277-159630775","ensembl_id":"ENSG00000171503"}},"GRch38":{"90":{"location":"4:158672125-158709623","ensembl_id":"ENSG00000171503"}}},"hgnc_date_symbol_changed":"1993-12-13"},"entity_type":"gene","entity_name":"ETFDH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Mitochondrial Leukoencephalopathy","Glutaric Acidemia IIC"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["CSA"],"biotype":"protein_coding","hgnc_id":"HGNC:3439","gene_name":"ERCC excision repair 8, CSA ubiquitin ligase complex subunit","omim_gene":["609412"],"alias_name":null,"gene_symbol":"ERCC8","hgnc_symbol":"ERCC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:60169658-60240900","ensembl_id":"ENSG00000049167"}},"GRch38":{"90":{"location":"5:60873831-60945073","ensembl_id":"ENSG00000049167"}}},"hgnc_date_symbol_changed":"1995-02-07"},"entity_type":"gene","entity_name":"ERCC8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Cockayne Syndrome","UV-sensitive syndrome","General Leukodystrophy & Mitochondrial Leukoencephalopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["CSB","RAD26","ARMD5"],"biotype":"protein_coding","hgnc_id":"HGNC:3438","gene_name":"ERCC excision repair 6, chromatin remodeling factor","omim_gene":["609413"],"alias_name":["Cockayne syndrome B protein"],"gene_symbol":"ERCC6","hgnc_symbol":"ERCC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:50663414-50747584","ensembl_id":"ENSG00000225830"}},"GRch38":{"90":{"location":"10:49455368-49539538","ensembl_id":"ENSG00000225830"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"ERCC6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Cockayne syndrome","UV-sensitive syndrome","General Leukodystrophy & Mitochondrial Leukoencephalopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["DPD"],"biotype":"protein_coding","hgnc_id":"HGNC:3012","gene_name":"dihydropyrimidine dehydrogenase","omim_gene":["612779"],"alias_name":null,"gene_symbol":"DPYD","hgnc_symbol":"DPYD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:97543299-98386605","ensembl_id":"ENSG00000188641"}},"GRch38":{"90":{"location":"1:97077743-97921049","ensembl_id":"ENSG00000188641"}}},"hgnc_date_symbol_changed":"1994-07-07"},"entity_type":"gene","entity_name":"DPYD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Dihydropyrimidine dehydrogenase deficiency 274270","5-fluorouracil toxicity 274270"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["dGK"],"biotype":"protein_coding","hgnc_id":"HGNC:2858","gene_name":"deoxyguanosine kinase","omim_gene":["601465"],"alias_name":null,"gene_symbol":"DGUOK","hgnc_symbol":"DGUOK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74153953-74186088","ensembl_id":"ENSG00000114956"}},"GRch38":{"90":{"location":"2:73926826-73958961","ensembl_id":"ENSG00000114956"}}},"hgnc_date_symbol_changed":"1996-07-17"},"entity_type":"gene","entity_name":"DGUOK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["General Leukodystrophy & Mitochondrial Leukoencephalopathy","Mitochondrial Leukoencephalopathy","Mitochondrial DNA depletion syndrome 3"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["Hs.6719","BCS","h-BCS","BJS"],"biotype":"protein_coding","hgnc_id":"HGNC:1020","gene_name":"BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone","omim_gene":["603647"],"alias_name":["GRACILE syndrome","Bjornstad syndrome"],"gene_symbol":"BCS1L","hgnc_symbol":"BCS1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:219523487-219528166","ensembl_id":"ENSG00000074582"}},"GRch38":{"90":{"location":"2:218658764-218663443","ensembl_id":"ENSG00000074582"}}},"hgnc_date_symbol_changed":"1998-07-03"},"entity_type":"gene","entity_name":"BCS1L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Mitochondrial complex III disorders","Mitochondrial Leukoencephalopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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:24415","gene_name":"bolA family member 3","omim_gene":["613183"],"alias_name":null,"gene_symbol":"BOLA3","hgnc_symbol":"BOLA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74362525-74375121","ensembl_id":"ENSG00000163170"}},"GRch38":{"90":{"location":"2:74135398-74147994","ensembl_id":"ENSG00000163170"}}},"hgnc_date_symbol_changed":"2005-05-09"},"entity_type":"gene","entity_name":"BOLA3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30302924","29654549","30302924"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM#614299"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["MGC25181","D2HGD","FLJ42195"],"biotype":"protein_coding","hgnc_id":"HGNC:28358","gene_name":"D-2-hydroxyglutarate dehydrogenase","omim_gene":["609186"],"alias_name":null,"gene_symbol":"D2HGDH","hgnc_symbol":"D2HGDH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:242673994-242708231","ensembl_id":"ENSG00000180902"}},"GRch38":{"90":{"location":"2:241734579-241768816","ensembl_id":"ENSG00000180902"}}},"hgnc_date_symbol_changed":"2006-03-09"},"entity_type":"gene","entity_name":"D2HGDH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["L2-Hydroxyglutaric aciduria"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["CEMCOX2"],"biotype":"protein_coding","hgnc_id":"HGNC:2263","gene_name":"COX15, cytochrome c oxidase assembly homolog","omim_gene":["603646"],"alias_name":null,"gene_symbol":"COX15","hgnc_symbol":"COX15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:101471601-101491857","ensembl_id":"ENSG00000014919"}},"GRch38":{"90":{"location":"10:99711844-99732100","ensembl_id":"ENSG00000014919"}}},"hgnc_date_symbol_changed":"1998-07-03"},"entity_type":"gene","entity_name":"COX15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Mitochondrial Leukoencephalopathy","Mitochondrial complex IV disorders"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["KIAA0306"],"biotype":"protein_coding","hgnc_id":"HGNC:14214","gene_name":"capicua transcriptional repressor","omim_gene":["612082"],"alias_name":null,"gene_symbol":"CIC","hgnc_symbol":"CIC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:42772689-42799949","ensembl_id":"ENSG00000079432"}},"GRch38":{"90":{"location":"19:42268537-42295797","ensembl_id":"ENSG00000079432"}}},"hgnc_date_symbol_changed":"2001-02-05"},"entity_type":"gene","entity_name":"CIC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Mental retardation, autosomal dominant 45 617600"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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:2084","gene_name":"caseinolytic mitochondrial matrix peptidase proteolytic subunit","omim_gene":["601119"],"alias_name":["ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human"],"gene_symbol":"CLPP","hgnc_symbol":"CLPP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:6361463-6368919","ensembl_id":"ENSG00000125656"}},"GRch38":{"90":{"location":"19:6361452-6368908","ensembl_id":"ENSG00000125656"}}},"hgnc_date_symbol_changed":"1999-09-20"},"entity_type":"gene","entity_name":"CLPP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27899912"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Perrault syndrome 3, MIM#614129"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["p190","Caspr","CNTNAP"],"biotype":"protein_coding","hgnc_id":"HGNC:8011","gene_name":"contactin associated protein 1","omim_gene":["602346"],"alias_name":["neurexin 4"],"gene_symbol":"CNTNAP1","hgnc_symbol":"CNTNAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40834631-40851832","ensembl_id":"ENSG00000108797"}},"GRch38":{"90":{"location":"17:42682613-42699814","ensembl_id":"ENSG00000108797"}}},"hgnc_date_symbol_changed":"1998-10-14"},"entity_type":"gene","entity_name":"CNTNAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28374019","29882456"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Hypomyelinating neuropathy, congenital, 3, MIM# 618186","Lethal congenital contracture syndrome 7, MIM# 616286"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["CL640","FLJ26072"],"biotype":"protein_coding","hgnc_id":"HGNC:25223","gene_name":"coenzyme Q2, polyprenyltransferase","omim_gene":["609825"],"alias_name":["4-hydroxybenzoate polyprenyltransferase"],"gene_symbol":"COQ2","hgnc_symbol":"COQ2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:84182689-84206067","ensembl_id":"ENSG00000173085"}},"GRch38":{"90":{"location":"4:83261536-83284914","ensembl_id":"ENSG00000173085"}}},"hgnc_date_symbol_changed":"2005-07-05"},"entity_type":"gene","entity_name":"COQ2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Mitochondrial Leukoencephalopathy","General Leukodystrophy & Mitochondrial Leukoencephalopathy","Coenzyme Q10 deficiency, primary, 1"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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:2260","gene_name":"COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor","omim_gene":["602125"],"alias_name":["protoheme IX farnesyltransferase, mitochondrial","heme O synthase"],"gene_symbol":"COX10","hgnc_symbol":"COX10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:13972813-14111994","ensembl_id":"ENSG00000006695"}},"GRch38":{"90":{"location":"17:14069496-14208677","ensembl_id":"ENSG00000006695"}}},"hgnc_date_symbol_changed":"1996-10-31"},"entity_type":"gene","entity_name":"COX10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Mitochondrial Leukoencephalopathy","General Leukodystrophy & Mitochondrial Leukoencephalopathy","Mitochondrial complex IV disorder"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23105016","27799409"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Progressive leukodystrophy","syndromic cleft palate","ataxia","retinal dystrophy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["p38","PRO0992","JTV-1","JTV1"],"biotype":"protein_coding","hgnc_id":"HGNC:20609","gene_name":"aminoacyl tRNA synthetase complex interacting multifunctional protein 2","omim_gene":["600859"],"alias_name":null,"gene_symbol":"AIMP2","hgnc_symbol":"AIMP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:6048876-6063465","ensembl_id":"ENSG00000106305"}},"GRch38":{"90":{"location":"7:6009245-6023834","ensembl_id":"ENSG00000106305"}}},"hgnc_date_symbol_changed":"2009-05-20"},"entity_type":"gene","entity_name":"AIMP2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["29215095"],"evidence":["Literature","Expert Review Red","Expert list"],"phenotypes":["Leukodystrophy, hypomyelinating, 17 618006"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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:869","gene_name":"ATPase copper transporting alpha","omim_gene":["300011"],"alias_name":["copper pump 1","copper-transporting ATPase 1"],"gene_symbol":"ATP7A","hgnc_symbol":"ATP7A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:77166194-77305892","ensembl_id":"ENSG00000165240"}},"GRch38":{"90":{"location":"X:77910656-78050395","ensembl_id":"ENSG00000165240"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ATP7A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26937406","21924848","29789304"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Menkes disease, 309400"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["treatable"],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["Atp12p","ATP12","LP3663","MGC29736"],"biotype":"protein_coding","hgnc_id":"HGNC:18802","gene_name":"ATP synthase mitochondrial F1 complex assembly factor 2","omim_gene":["608918"],"alias_name":null,"gene_symbol":"ATPAF2","hgnc_symbol":"ATPAF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:17880723-17942523","ensembl_id":"ENSG00000171953"}},"GRch38":{"90":{"location":"17:17977409-18039209","ensembl_id":"ENSG00000171953"}}},"hgnc_date_symbol_changed":"2002-07-01"},"entity_type":"gene","entity_name":"ATPAF2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["14757859"],"evidence":["Expert list"],"phenotypes":["?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["DXS1357E","BAP31","6C6-Ag","CDM"],"biotype":"protein_coding","hgnc_id":"HGNC:16695","gene_name":"B-cell receptor associated protein 31","omim_gene":["300398"],"alias_name":null,"gene_symbol":"BCAP31","hgnc_symbol":"BCAP31","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:152965947-152990152","ensembl_id":"ENSG00000185825"}},"GRch38":{"90":{"location":"X:153700497-153724697","ensembl_id":"ENSG00000185825"}}},"hgnc_date_symbol_changed":"2003-12-22"},"entity_type":"gene","entity_name":"BCAP31","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Deafness, dystonia, and cerebral hypomyelination, 300475"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["COQ8","SCAR9"],"biotype":"protein_coding","hgnc_id":"HGNC:16812","gene_name":"coenzyme Q8A","omim_gene":["606980"],"alias_name":["coenzyme Q8 homolog (yeast)"],"gene_symbol":"COQ8A","hgnc_symbol":"COQ8A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:227085237-227175246","ensembl_id":"ENSG00000163050"}},"GRch38":{"90":{"location":"1:226897536-226987545","ensembl_id":"ENSG00000163050"}}},"hgnc_date_symbol_changed":"2016-07-07"},"entity_type":"gene","entity_name":"COQ8A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert list"],"phenotypes":["Coenzyme Q10 deficiency, primary, 4 612016"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["DKFZP434K046"],"biotype":"protein_coding","hgnc_id":"HGNC:25302","gene_name":"coenzyme Q9","omim_gene":["612837"],"alias_name":null,"gene_symbol":"COQ9","hgnc_symbol":"COQ9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:57481337-57495187","ensembl_id":"ENSG00000088682"}},"GRch38":{"90":{"location":"16:57447425-57461275","ensembl_id":"ENSG00000088682"}}},"hgnc_date_symbol_changed":"2006-01-13"},"entity_type":"gene","entity_name":"COQ9","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert list"],"phenotypes":["Coenzyme Q10 deficiency, primary, 5 614654"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["SPG49"],"biotype":"protein_coding","hgnc_id":"HGNC:20582","gene_name":"cytochrome P450 family 2 subfamily U member 1","omim_gene":["610670"],"alias_name":["spastic paraplegia 49"],"gene_symbol":"CYP2U1","hgnc_symbol":"CYP2U1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:108852525-108874613","ensembl_id":"ENSG00000155016"}},"GRch38":{"90":{"location":"4:107931369-107953457","ensembl_id":"ENSG00000155016"}}},"hgnc_date_symbol_changed":"2004-03-11"},"entity_type":"gene","entity_name":"CYP2U1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["27292318"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Spastic paraplegia 56, autosomal recessive 615030"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["MLD","Des-1","DES1","FADS7","DEGS-1"],"biotype":"protein_coding","hgnc_id":"HGNC:13709","gene_name":"delta 4-desaturase, sphingolipid 1","omim_gene":["615843"],"alias_name":["sphingolipid delta(4)-desaturase 1","dihydroceramide desaturase 1"],"gene_symbol":"DEGS1","hgnc_symbol":"DEGS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:224363458-224381143","ensembl_id":"ENSG00000143753"}},"GRch38":{"90":{"location":"1:224175756-224193441","ensembl_id":"ENSG00000143753"}}},"hgnc_date_symbol_changed":"2004-12-14"},"entity_type":"gene","entity_name":"DEGS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list","Expert Review Green","Literature"],"phenotypes":["Leukodystrophy, hypomyelinating, 18 618404"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["MAG","EM9","MGC102762","MGC126218","MGC126219","TFIIH"],"biotype":"protein_coding","hgnc_id":"HGNC:3434","gene_name":"ERCC excision repair 2, TFIIH core complex helicase subunit","omim_gene":["126340"],"alias_name":["excision repair cross-complementing rodent repair deficiency, complementation group 2 protein","TFIIH basal transcription factor complex helicase XPB subunit"],"gene_symbol":"ERCC2","hgnc_symbol":"ERCC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:45853095-45874176","ensembl_id":"ENSG00000104884"}},"GRch38":{"90":{"location":"19:45349837-45370918","ensembl_id":"ENSG00000104884"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ERCC2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["29451896"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Trichothiodystrophy 1, photosensitive 601675"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["XPB","BTF2","RAD25","TFIIH","GTF2H"],"biotype":"protein_coding","hgnc_id":"HGNC:3435","gene_name":"ERCC excision repair 3, TFIIH core complex helicase subunit","omim_gene":["133510"],"alias_name":["xeroderma pigmentosum group B complementing"],"gene_symbol":"ERCC3","hgnc_symbol":"ERCC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:128014866-128051752","ensembl_id":"ENSG00000163161"}},"GRch38":{"90":{"location":"2:127257290-127294176","ensembl_id":"ENSG00000163161"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ERCC3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert list"],"phenotypes":["Trichothiodystrophy 2, photosensitive 616390"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["SAC3","hSac3","dJ249I4.1","ALS11","CMT4J"],"biotype":"protein_coding","hgnc_id":"HGNC:16873","gene_name":"FIG4 phosphoinositide 5-phosphatase","omim_gene":["609390"],"alias_name":null,"gene_symbol":"FIG4","hgnc_symbol":"FIG4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:110012499-110146631","ensembl_id":"ENSG00000112367"}},"GRch38":{"90":{"location":"6:109691312-109825428","ensembl_id":"ENSG00000112367"}}},"hgnc_date_symbol_changed":"2007-07-30"},"entity_type":"gene","entity_name":"FIG4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30740813","29688489"],"evidence":["Expert Review Green","Expert list","Expert Review Green","Literature"],"phenotypes":["Charcot-Marie-Tooth disease, type 4J 611228","Yunis-Varon syndrome 216340","leukoencephalopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["GFAT","GFA","GFAT1"],"biotype":"protein_coding","hgnc_id":"HGNC:4241","gene_name":"glutamine--fructose-6-phosphate transaminase 1","omim_gene":["138292"],"alias_name":null,"gene_symbol":"GFPT1","hgnc_symbol":"GFPT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:69546905-69614382","ensembl_id":"ENSG00000198380"}},"GRch38":{"90":{"location":"2:69319769-69387254","ensembl_id":"ENSG00000198380"}}},"hgnc_date_symbol_changed":"1993-12-14"},"entity_type":"gene","entity_name":"GFPT1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["30635494"],"evidence":["Expert Review Amber","Expert list","Expert Review Green","Literature"],"phenotypes":["Myasthenia, congenital, 12, with tubular aggregates 610542","Leukoencephalopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["FLJ30544","bA120J8.2","TTD-A","TFB5","TFIIH","TTDA"],"biotype":"protein_coding","hgnc_id":"HGNC:21157","gene_name":"general transcription factor IIH subunit 5","omim_gene":["608780"],"alias_name":["DNA repair syndrome trichothiodystrophy group A"],"gene_symbol":"GTF2H5","hgnc_symbol":"GTF2H5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:158589384-158620376","ensembl_id":"ENSG00000272047"}},"GRch38":{"90":{"location":"6:158168352-158199344","ensembl_id":"ENSG00000272047"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"GTF2H5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert list"],"phenotypes":["Trichothiodystrophy 3, photosensitive 616395"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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:4982","gene_name":"hydroxymethylbilane synthase","omim_gene":["609806"],"alias_name":null,"gene_symbol":"HMBS","hgnc_symbol":"HMBS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118955576-118964259","ensembl_id":"ENSG00000256269"}},"GRch38":{"90":{"location":"11:119084866-119093549","ensembl_id":"ENSG00000256269"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"HMBS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27558376","34089223"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Leukoencephalopathy, porphyria-related, MIM# 620711"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["ORF20","TTDN1"],"biotype":"protein_coding","hgnc_id":"HGNC:16002","gene_name":"M-phase specific PLK1 interacting protein","omim_gene":["609188"],"alias_name":null,"gene_symbol":"MPLKIP","hgnc_symbol":"MPLKIP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:40165622-40174258","ensembl_id":"ENSG00000168303"}},"GRch38":{"90":{"location":"7:40126023-40134659","ensembl_id":"ENSG00000168303"}}},"hgnc_date_symbol_changed":"2012-03-01"},"entity_type":"gene","entity_name":"MPLKIP","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert list"],"phenotypes":["Trichothiodystrophy 4, nonphotosensitive 234050"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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-132"],"biotype":"protein_coding","hgnc_id":"HGNC:14048","gene_name":"mitochondrial ribosomal protein S16","omim_gene":["609204"],"alias_name":null,"gene_symbol":"MRPS16","hgnc_symbol":"MRPS16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:75006510-75012451","ensembl_id":"ENSG00000182180"}},"GRch38":{"90":{"location":"10:73248843-73252693","ensembl_id":"ENSG00000182180"}}},"hgnc_date_symbol_changed":"2001-02-28"},"entity_type":"gene","entity_name":"MRPS16","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert list","Expert Review Red","Australian Genomcis Health Alliance Leukodystrophy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Combined oxidative phosphorylation deficiency 2, 610498"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["B8"],"biotype":"protein_coding","hgnc_id":"HGNC:7685","gene_name":"NADH:ubiquinone oxidoreductase subunit A2","omim_gene":["602137"],"alias_name":["complex I B8 subunit"],"gene_symbol":"NDUFA2","hgnc_symbol":"NDUFA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:140018325-140027370","ensembl_id":"ENSG00000131495"}},"GRch38":{"90":{"location":"5:140638740-140647785","ensembl_id":"ENSG00000131495"}}},"hgnc_date_symbol_changed":"1996-08-30"},"entity_type":"gene","entity_name":"NDUFA2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["28857146","32154054","18513682"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 13 618235","leukoencephalopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["PPP1R115"],"biotype":"protein_coding","hgnc_id":"HGNC:8104","gene_name":"occludin","omim_gene":["602876"],"alias_name":["tight junction protein occludin TM4 minus","phosphatase 1, regulatory subunit 115"],"gene_symbol":"OCLN","hgnc_symbol":"OCLN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:68788119-68853931","ensembl_id":"ENSG00000197822"}},"GRch38":{"90":{"location":"5:69492292-69558104","ensembl_id":"ENSG00000197822"}}},"hgnc_date_symbol_changed":"1998-01-20"},"entity_type":"gene","entity_name":"OCLN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert list"],"phenotypes":["Pseudo-TORCH syndrome 1 251290"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["SERA","PGDH","PDG"],"biotype":"protein_coding","hgnc_id":"HGNC:8923","gene_name":"phosphoglycerate dehydrogenase","omim_gene":["606879"],"alias_name":null,"gene_symbol":"PHGDH","hgnc_symbol":"PHGDH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:120202421-120286838","ensembl_id":"ENSG00000092621"}},"GRch38":{"90":{"location":"1:119648411-119744226","ensembl_id":"ENSG00000092621"}}},"hgnc_date_symbol_changed":"1999-11-22"},"entity_type":"gene","entity_name":"PHGDH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert list"],"phenotypes":["Neu-Laxova syndrome 1 256520","Phosphoglycerate dehydrogenase deficiency 601815"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["CLG","FLJ00018","ARHGEF42"],"biotype":"protein_coding","hgnc_id":"HGNC:29515","gene_name":"pleckstrin homology and RhoGEF domain containing G2","omim_gene":["611893"],"alias_name":null,"gene_symbol":"PLEKHG2","hgnc_symbol":"PLEKHG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:39903225-39919054","ensembl_id":"ENSG00000090924"}},"GRch38":{"90":{"location":"19:39412585-39428415","ensembl_id":"ENSG00000090924"}}},"hgnc_date_symbol_changed":"2004-12-01"},"entity_type":"gene","entity_name":"PLEKHG2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["26573021"],"evidence":["Expert Review Amber","Expert Review Amber","Expert list","Expert list"],"phenotypes":["Leukodystrophy and acquired microcephaly with or without dystonia 616763"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["DKFZP586M0122","FLJ21915","RPO1-4","RPA1"],"biotype":"protein_coding","hgnc_id":"HGNC:17264","gene_name":"RNA polymerase I subunit A","omim_gene":["616404"],"alias_name":null,"gene_symbol":"POLR1A","hgnc_symbol":"POLR1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:86247339-86333278","ensembl_id":"ENSG00000068654"}},"GRch38":{"90":{"location":"2:86020216-86106155","ensembl_id":"ENSG00000068654"}}},"hgnc_date_symbol_changed":"2003-04-01"},"entity_type":"gene","entity_name":"POLR1A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["28051070","36917474"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Leukodystrophy, hypomyelinating, 27, MIM# 620675"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["CLN1","INCL"],"biotype":"protein_coding","hgnc_id":"HGNC:9325","gene_name":"palmitoyl-protein thioesterase 1","omim_gene":["600722"],"alias_name":["ceroid-lipofuscinosis, neuronal 1, infantile"],"gene_symbol":"PPT1","hgnc_symbol":"PPT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:40538379-40563375","ensembl_id":"ENSG00000131238"}},"GRch38":{"90":{"location":"1:40071461-40097727","ensembl_id":"ENSG00000131238"}}},"hgnc_date_symbol_changed":"2000-06-09"},"entity_type":"gene","entity_name":"PPT1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["5706364","8576553"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 1 256730"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["PFP","P1","HPLH2"],"biotype":"protein_coding","hgnc_id":"HGNC:9360","gene_name":"perforin 1","omim_gene":["170280"],"alias_name":["Perforin","perforin 1 (preforming protein)"],"gene_symbol":"PRF1","hgnc_symbol":"PRF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:72357104-72362531","ensembl_id":"ENSG00000180644"}},"GRch38":{"90":{"location":"10:70597348-70602775","ensembl_id":"ENSG00000180644"}}},"hgnc_date_symbol_changed":"1989-02-23"},"entity_type":"gene","entity_name":"PRF1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["23443029","21959744"],"evidence":["Expert list"],"phenotypes":["Hemophagocytic lymphohistiocytosis, familial, 2 603553"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["PSA"],"biotype":"protein_coding","hgnc_id":"HGNC:19129","gene_name":"phosphoserine aminotransferase 1","omim_gene":["610936"],"alias_name":null,"gene_symbol":"PSAT1","hgnc_symbol":"PSAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:80912059-80945009","ensembl_id":"ENSG00000135069"}},"GRch38":{"90":{"location":"9:78297143-78330093","ensembl_id":"ENSG00000135069"}}},"hgnc_date_symbol_changed":"2003-05-19"},"entity_type":"gene","entity_name":"PSAT1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert list"],"phenotypes":["Neu-Laxova syndrome 2 616038","?Phosphoserine aminotransferase deficiency 610992"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["H-YPT3"],"biotype":"protein_coding","hgnc_id":"HGNC:9761","gene_name":"RAB11B, member RAS oncogene family","omim_gene":["604198"],"alias_name":null,"gene_symbol":"RAB11B","hgnc_symbol":"RAB11B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:8454865-8469318","ensembl_id":"ENSG00000185236"}},"GRch38":{"90":{"location":"19:8389981-8404434","ensembl_id":"ENSG00000185236"}}},"hgnc_date_symbol_changed":"1999-02-23"},"entity_type":"gene","entity_name":"RAB11B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29106825"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["NACT"],"biotype":"protein_coding","hgnc_id":"HGNC:23089","gene_name":"solute carrier family 13 member 5","omim_gene":["608305"],"alias_name":null,"gene_symbol":"SLC13A5","hgnc_symbol":"SLC13A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:6588032-6616886","ensembl_id":"ENSG00000141485"}},"GRch38":{"90":{"location":"17:6684713-6713567","ensembl_id":"ENSG00000141485"}}},"hgnc_date_symbol_changed":"2003-09-09"},"entity_type":"gene","entity_name":"SLC13A5","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["27913086"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Epileptic encephalopathy, early infantile, 25 615905"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["CTP"],"biotype":"protein_coding","hgnc_id":"HGNC:10979","gene_name":"solute carrier family 25 member 1","omim_gene":["190315"],"alias_name":null,"gene_symbol":"SLC25A1","hgnc_symbol":"SLC25A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:19163095-19166343","ensembl_id":"ENSG00000100075"}},"GRch38":{"90":{"location":"22:19175575-19178830","ensembl_id":"ENSG00000100075"}}},"hgnc_date_symbol_changed":"1996-08-01"},"entity_type":"gene","entity_name":"SLC25A1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["29226520"],"evidence":["Expert list"],"phenotypes":["Combined D-2- and L-2-hydroxyglutaric aciduria 615182"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["KIAA0610","TAHCCP1"],"biotype":"protein_coding","hgnc_id":"HGNC:18514","gene_name":"spartin","omim_gene":["607111"],"alias_name":["spartin"],"gene_symbol":"SPART","hgnc_symbol":"SPART","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:36875775-36944317","ensembl_id":"ENSG00000133104"}},"GRch38":{"90":{"location":"13:36301638-36370180","ensembl_id":"ENSG00000133104"}}},"hgnc_date_symbol_changed":"2017-05-30"},"entity_type":"gene","entity_name":"SPART","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28875386","15372254"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Troyer syndrome 275900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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:11429","gene_name":"syntaxin 11","omim_gene":["605014"],"alias_name":null,"gene_symbol":"STX11","hgnc_symbol":"STX11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:144471663-144509507","ensembl_id":"ENSG00000135604"}},"GRch38":{"90":{"location":"6:144150526-144188370","ensembl_id":"ENSG00000135604"}}},"hgnc_date_symbol_changed":"1998-11-30"},"entity_type":"gene","entity_name":"STX11","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert list"],"phenotypes":["Hemophagocytic lymphohistiocytosis, familial, 4 603552"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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:29118","gene_name":"transmembrane protein 63A","omim_gene":null,"alias_name":null,"gene_symbol":"TMEM63A","hgnc_symbol":"TMEM63A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:226033237-226070069","ensembl_id":"ENSG00000196187"}},"GRch38":{"90":{"location":"1:225845536-225882369","ensembl_id":"ENSG00000196187"}}},"hgnc_date_symbol_changed":"2005-07-25"},"entity_type":"gene","entity_name":"TMEM63A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31587869"],"evidence":["Expert Review Green","Expert list","Expert Review Green","Expert list"],"phenotypes":["Leukodystrophy, hypomyelinating, 19, transient infantile 618688"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["bA131P10.1"],"biotype":"protein_coding","hgnc_id":"HGNC:20597","gene_name":"ubiquitin fold modifier 1","omim_gene":["610553"],"alias_name":null,"gene_symbol":"UFM1","hgnc_symbol":"UFM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:38923986-38937140","ensembl_id":"ENSG00000120686"}},"GRch38":{"90":{"location":"13:38349849-38363619","ensembl_id":"ENSG00000120686"}}},"hgnc_date_symbol_changed":"2005-05-27"},"entity_type":"gene","entity_name":"UFM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29868776"],"evidence":["Expert Review Green","Expert list","Expert Review Green","Expert list"],"phenotypes":["Leukodystrophy, hypomyelinating, 14 617899"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["CMT2N","AlaRS"],"biotype":"protein_coding","hgnc_id":"HGNC:20","gene_name":"alanyl-tRNA synthetase","omim_gene":["601065"],"alias_name":["alanine tRNA ligase 1, cytoplasmic"],"gene_symbol":"AARS","hgnc_symbol":"AARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:70286198-70323446","ensembl_id":"ENSG00000090861"}},"GRch38":{"90":{"location":"16:70252295-70289543","ensembl_id":"ENSG00000090861"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"AARS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28493438","25817015"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Epileptic encephalopathy, early infantile, 29, MIM#616339"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["HL"],"biotype":"protein_coding","hgnc_id":"HGNC:5005","gene_name":"3-hydroxymethyl-3-methylglutaryl-CoA lyase","omim_gene":["613898"],"alias_name":["hydroxymethylglutaricaciduria"],"gene_symbol":"HMGCL","hgnc_symbol":"HMGCL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:24128375-24165110","ensembl_id":"ENSG00000117305"}},"GRch38":{"90":{"location":"1:23801885-23838620","ensembl_id":"ENSG00000117305"}}},"hgnc_date_symbol_changed":"1993-12-13"},"entity_type":"gene","entity_name":"HMGCL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11461194"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["HMG-CoA lyase deficiency, 246450"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["D12S1889","NKHC","MY050"],"biotype":"protein_coding","hgnc_id":"HGNC:6323","gene_name":"kinesin family member 5A","omim_gene":["602821"],"alias_name":null,"gene_symbol":"KIF5A","hgnc_symbol":"KIF5A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:57943781-57980415","ensembl_id":"ENSG00000155980"}},"GRch38":{"90":{"location":"12:57549998-57586632","ensembl_id":"ENSG00000155980"}}},"hgnc_date_symbol_changed":"1998-08-24"},"entity_type":"gene","entity_name":"KIF5A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27463701","27414745"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Myoclonus, intractable, neonatal, MIM#617235"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["OCRL1"],"biotype":"protein_coding","hgnc_id":"HGNC:8108","gene_name":"OCRL, inositol polyphosphate-5-phosphatase","omim_gene":["300535"],"alias_name":null,"gene_symbol":"OCRL","hgnc_symbol":"OCRL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:128673826-128726538","ensembl_id":"ENSG00000122126"}},"GRch38":{"90":{"location":"X:129539849-129592561","ensembl_id":"ENSG00000122126"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"OCRL","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Red"],"phenotypes":["Lowe syndrome,  309000"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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:8850","gene_name":"peroxisomal biogenesis factor 1","omim_gene":["602136"],"alias_name":null,"gene_symbol":"PEX1","hgnc_symbol":"PEX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92116334-92157845","ensembl_id":"ENSG00000127980"}},"GRch38":{"90":{"location":"7:92487020-92528531","ensembl_id":"ENSG00000127980"}}},"hgnc_date_symbol_changed":"1998-01-08"},"entity_type":"gene","entity_name":"PEX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Peroxisome biogenesis disorder 1B (NALD/IRD), 601539"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["RNF69"],"biotype":"protein_coding","hgnc_id":"HGNC:8851","gene_name":"peroxisomal biogenesis factor 10","omim_gene":["602859"],"alias_name":null,"gene_symbol":"PEX10","hgnc_symbol":"PEX10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:2336236-2345236","ensembl_id":"ENSG00000157911"}},"GRch38":{"90":{"location":"1:2403964-2413797","ensembl_id":"ENSG00000157911"}}},"hgnc_date_symbol_changed":"1998-08-05"},"entity_type":"gene","entity_name":"PEX10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Peroxisome biogenesis disorder 6B, 614871"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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:8853","gene_name":"peroxisomal biogenesis factor 11 beta","omim_gene":["603867"],"alias_name":null,"gene_symbol":"PEX11B","hgnc_symbol":"PEX11B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:145516252-145523730","ensembl_id":"ENSG00000131779"}},"GRch38":{"90":{"location":"1:145911350-145918837","ensembl_id":"ENSG00000131779"}}},"hgnc_date_symbol_changed":"1998-11-11"},"entity_type":"gene","entity_name":"PEX11B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["?Peroxisome biogenesis disorder 14B, 614920"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["TrpRS"],"biotype":"protein_coding","hgnc_id":"HGNC:12730","gene_name":"tryptophanyl tRNA synthetase 2, mitochondrial","omim_gene":["604733"],"alias_name":["tryptophan tRNA ligase 2, mitochondrial"],"gene_symbol":"WARS2","hgnc_symbol":"WARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:119573839-119683294","ensembl_id":"ENSG00000116874"}},"GRch38":{"90":{"location":"1:119031216-119140671","ensembl_id":"ENSG00000116874"}}},"hgnc_date_symbol_changed":"1999-06-11"},"entity_type":"gene","entity_name":"WARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31282308","28650581","30920170"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["RNF108","PEP5"],"biotype":"protein_coding","hgnc_id":"HGNC:14583","gene_name":"VPS11, CORVET/HOPS core subunit","omim_gene":["608549"],"alias_name":null,"gene_symbol":"VPS11","hgnc_symbol":"VPS11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118938403-118952688","ensembl_id":"ENSG00000160695"}},"GRch38":{"90":{"location":"11:119067692-119081978","ensembl_id":"ENSG00000160695"}}},"hgnc_date_symbol_changed":"2001-02-08"},"entity_type":"gene","entity_name":"VPS11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27120463","26307567","27473128"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Leukodystrophy, hypomyelinating, 12, MIM#616683"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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:3148","gene_name":"thymidine phosphorylase","omim_gene":["131222"],"alias_name":["gliostatin"],"gene_symbol":"TYMP","hgnc_symbol":"TYMP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:50964181-50968485","ensembl_id":"ENSG00000025708"}},"GRch38":{"90":{"location":"22:50525752-50530056","ensembl_id":"ENSG00000025708"}}},"hgnc_date_symbol_changed":"2008-01-21"},"entity_type":"gene","entity_name":"TYMP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Mitochondrial DNA depletion syndrome 1 (MNGIE type)","Mitochondrial Leukoencephalopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["EFTu","EF-TuMT","EFTU"],"biotype":"protein_coding","hgnc_id":"HGNC:12420","gene_name":"Tu translation elongation factor, mitochondrial","omim_gene":["602389"],"alias_name":null,"gene_symbol":"TUFM","hgnc_symbol":"TUFM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:28853732-28857729","ensembl_id":"ENSG00000178952"}},"GRch38":{"90":{"location":"16:28842411-28846408","ensembl_id":"ENSG00000178952"}}},"hgnc_date_symbol_changed":"1997-04-10"},"entity_type":"gene","entity_name":"TUFM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28132884","26741492","17160893"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Combined oxidative phosphorylation deficiency 4, MIM# 610678","Mitochondrial Leukoencephalopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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:24316","gene_name":"translational activator of cytochrome c oxidase I","omim_gene":["612958"],"alias_name":null,"gene_symbol":"TACO1","hgnc_symbol":"TACO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:61678231-61685725","ensembl_id":"ENSG00000136463"}},"GRch38":{"90":{"location":"17:63600872-63608365","ensembl_id":"ENSG00000136463"}}},"hgnc_date_symbol_changed":"2009-06-26"},"entity_type":"gene","entity_name":"TACO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Mitochondrial Leukoencephalopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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:11474","gene_name":"SURF1, cytochrome c oxidase assembly factor","omim_gene":["185620"],"alias_name":["surfeit locus protein 1"],"gene_symbol":"SURF1","hgnc_symbol":"SURF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:136218610-136223552","ensembl_id":"ENSG00000148290"}},"GRch38":{"90":{"location":"9:133351755-133356676","ensembl_id":"ENSG00000148290"}}},"hgnc_date_symbol_changed":"1989-11-29"},"entity_type":"gene","entity_name":"SURF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Leigh syndrome, due to COX IV deficiency","Mitochondrial Leukoencephalopathy","Mitochondrial complex IV disorder"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["FGE","UNQ3037"],"biotype":"protein_coding","hgnc_id":"HGNC:20376","gene_name":"sulfatase modifying factor 1","omim_gene":["607939"],"alias_name":null,"gene_symbol":"SUMF1","hgnc_symbol":"SUMF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:3742498-4508965","ensembl_id":"ENSG00000144455"}},"GRch38":{"90":{"location":"3:3700814-4467281","ensembl_id":"ENSG00000144455"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"SUMF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["General Leukodystrophy & Mitochondrial Leukoencephalopathy","Multiple sulfatase deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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:11448","gene_name":"succinate-CoA ligase ADP-forming beta subunit","omim_gene":["603921"],"alias_name":["succinate--CoA ligase (ADP-forming)"],"gene_symbol":"SUCLA2","hgnc_symbol":"SUCLA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:48510622-48612125","ensembl_id":"ENSG00000136143"}},"GRch38":{"90":{"location":"13:47936491-48001354","ensembl_id":"ENSG00000136143"}}},"hgnc_date_symbol_changed":"1998-11-11"},"entity_type":"gene","entity_name":"SUCLA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Mitochondrial DNA depletion syndrome 5","Mitochondrial Leukoencephalopathy","Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["DOM","WS4","WS2E"],"biotype":"protein_coding","hgnc_id":"HGNC:11190","gene_name":"SRY-box 10","omim_gene":["602229"],"alias_name":["dominant megacolon, mouse, human homolog of"],"gene_symbol":"SOX10","hgnc_symbol":"SOX10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:38366693-38383429","ensembl_id":"ENSG00000100146"}},"GRch38":{"90":{"location":"22:37970686-37987422","ensembl_id":"ENSG00000100146"}}},"hgnc_date_symbol_changed":"1998-01-22"},"entity_type":"gene","entity_name":"SOX10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy","PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE","General Leukodystrophy & Mitochondrial Leukoencephalopathy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["T1"],"biotype":"protein_coding","hgnc_id":"HGNC:10990","gene_name":"solute carrier family 25 member 4","omim_gene":["103220"],"alias_name":null,"gene_symbol":"SLC25A4","hgnc_symbol":"SLC25A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:186064395-186071536","ensembl_id":"ENSG00000151729"}},"GRch38":{"90":{"location":"4:185143241-185150382","ensembl_id":"ENSG00000151729"}}},"hgnc_date_symbol_changed":"1989-05-19"},"entity_type":"gene","entity_name":"SLC25A4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Mitochondrial Leukoencephalopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["Aralar"],"biotype":"protein_coding","hgnc_id":"HGNC:10982","gene_name":"solute carrier family 25 member 12","omim_gene":["603667"],"alias_name":null,"gene_symbol":"SLC25A12","hgnc_symbol":"SLC25A12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:172640880-172864766","ensembl_id":"ENSG00000115840"}},"GRch38":{"90":{"location":"2:171784370-171999859","ensembl_id":"ENSG00000115840"}}},"hgnc_date_symbol_changed":"1999-01-28"},"entity_type":"gene","entity_name":"SLC25A12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Hypomyelination, global cerebral 612949"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["XPCT","MCT8","MCT7"],"biotype":"protein_coding","hgnc_id":"HGNC:10923","gene_name":"solute carrier family 16 member 2","omim_gene":["300095"],"alias_name":null,"gene_symbol":"SLC16A2","hgnc_symbol":"SLC16A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:73641085-73753752","ensembl_id":"ENSG00000147100"}},"GRch38":{"90":{"location":"X:74421461-74533917","ensembl_id":"ENSG00000147100"}}},"hgnc_date_symbol_changed":"1994-04-22"},"entity_type":"gene","entity_name":"SLC16A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15980113","31410843","20301789"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Allan-Herndon-Dudley syndrome, MIM# 300523","Hypomyelination"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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:10681","gene_name":"succinate dehydrogenase complex iron sulfur subunit B","omim_gene":["185470"],"alias_name":["iron-sulfur subunit of complex II","succinate dehydrogenase [ubiquinone] iron-sulfur subunit"],"gene_symbol":"SDHB","hgnc_symbol":"SDHB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:17345217-17380665","ensembl_id":"ENSG00000117118"}},"GRch38":{"90":{"location":"1:17018722-17054170","ensembl_id":"ENSG00000117118"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"SDHB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22972948","26925370","27604842"],"evidence":["Expert Review Green","Royal Melbourne Hospital","Australian Genomcis Health Alliance Leukodystrophy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Succinate dehydrogenase-deficient leukoencephalopathy","Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224","Complex II deficiency","mitochondrial leucoencephalopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["LYRM8"],"biotype":"protein_coding","hgnc_id":"HGNC:33867","gene_name":"succinate dehydrogenase complex assembly factor 1","omim_gene":["612848"],"alias_name":["LYR motif containing 8"],"gene_symbol":"SDHAF1","hgnc_symbol":"SDHAF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:36486090-36487220","ensembl_id":"ENSG00000205138"}},"GRch38":{"90":{"location":"19:35995199-35996315","ensembl_id":"ENSG00000205138"}}},"hgnc_date_symbol_changed":"2009-05-27"},"entity_type":"gene","entity_name":"SDHAF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Mitochondrial complex II deficiency 252011"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Mitochondrial respiratory chain complex II deficiency, MIM#252011"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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:10606","gene_name":"sterol carrier protein 2","omim_gene":["184755"],"alias_name":null,"gene_symbol":"SCP2","hgnc_symbol":"SCP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:53392901-53517375","ensembl_id":"ENSG00000116171"}},"GRch38":{"90":{"location":"1:52927229-53051703","ensembl_id":"ENSG00000116171"}}},"hgnc_date_symbol_changed":"1991-07-24"},"entity_type":"gene","entity_name":"SCP2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["16685654","26497993"],"evidence":["Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Leukoencephalopathy with dystonia and motor neuropathy 613724"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["SCO1L"],"biotype":"protein_coding","hgnc_id":"HGNC:10604","gene_name":"SCO2, cytochrome c oxidase assembly protein","omim_gene":["604272"],"alias_name":null,"gene_symbol":"SCO2","hgnc_symbol":"SCO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:50961997-50964868","ensembl_id":"ENSG00000130489"}},"GRch38":{"90":{"location":"22:50523568-50525606","ensembl_id":"ENSG00000130489"}}},"hgnc_date_symbol_changed":"1999-10-12"},"entity_type":"gene","entity_name":"SCO2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 604377"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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:10603","gene_name":"SCO1, cytochrome c oxidase assembly protein","omim_gene":["603644"],"alias_name":null,"gene_symbol":"SCO1","hgnc_symbol":"SCO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:10583654-10601692","ensembl_id":"ENSG00000133028"}},"GRch38":{"90":{"location":"17:10672474-10698375","ensembl_id":"ENSG00000133028"}}},"hgnc_date_symbol_changed":"1998-07-03"},"entity_type":"gene","entity_name":"SCO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Mitochondrial complex IV deficiency 220110"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["p53R2"],"biotype":"protein_coding","hgnc_id":"HGNC:17296","gene_name":"ribonucleotide reductase regulatory TP53 inducible subunit M2B","omim_gene":["604712"],"alias_name":null,"gene_symbol":"RRM2B","hgnc_symbol":"RRM2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:103216730-103251346","ensembl_id":"ENSG00000048392"}},"GRch38":{"90":{"location":"8:102204502-102239118","ensembl_id":"ENSG00000048392"}}},"hgnc_date_symbol_changed":"2002-01-14"},"entity_type":"gene","entity_name":"RRM2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075","Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["DALRD1"],"biotype":"protein_coding","hgnc_id":"HGNC:9870","gene_name":"arginyl-tRNA synthetase","omim_gene":["107820"],"alias_name":["arginine tRNA ligase 1, cytoplasmic"],"gene_symbol":"RARS","hgnc_symbol":"RARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:167913450-167946304","ensembl_id":"ENSG00000113643"}},"GRch38":{"90":{"location":"5:168486445-168519299","ensembl_id":"ENSG00000113643"}}},"hgnc_date_symbol_changed":"1996-10-26"},"entity_type":"gene","entity_name":"RARS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital","Expert Review Green","Australian Genomcis Health Alliance Leukodystrophy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Leukodystrophy, hypomyelinating, 9 616140"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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":["P5CR2"],"biotype":"protein_coding","hgnc_id":"HGNC:30262","gene_name":"pyrroline-5-carboxylate reductase 2","omim_gene":["616406"],"alias_name":null,"gene_symbol":"PYCR2","hgnc_symbol":"PYCR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:226107578-226111978","ensembl_id":"ENSG00000143811"}},"GRch38":{"90":{"location":"1:225919877-225924340","ensembl_id":"ENSG00000143811"}}},"hgnc_date_symbol_changed":"2004-03-11"},"entity_type":"gene","entity_name":"PYCR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25865492","27130255"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Leukodystrophy, hypomyelinating, 10, MIM# 616420"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"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}]}