### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GLRX5) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "GLRX5" "glutaredoxin 5" "14" "q32.13" "unknown" "NG_021217.1" "UD_145627151913" "" "https://www.LOVD.nl/GLRX5" "" "1" "20134" "51218" "609588" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2017-08-08 00:00:00" "00006" "2020-08-23 13:12:14" "00000" "2023-11-27 17:35:39" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024599" "GLRX5" "glutaredoxin 5" "001" "NM_016417.2" "" "NP_057501.2" "" "" "" "-104" "1067" "474" "96001323" "96011055" "00000" "2017-08-08 12:40:11" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "05443" "SIDBA" "anemia, sideroblastic (SIDBA)" "" "" "" "" "" "00006" "2018-06-22 10:36:51" "" "" "05444" "SIDBA3" "anemia, sideroblastic, type 3 (SIDBA-3)" "AR" "616860" "" "autosomal recessive" "" "00006" "2018-06-22 10:38:32" "00006" "2021-12-10 21:51:32" "06229" "SPAHGC" "Spasticity, childhood-onset, with hyperglycinemia" "AR" "616859" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "GLRX5" "05443" "GLRX5" "05444" "GLRX5" "06229" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00307948" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "simplex case" "M" "" "" "" "0" "" "" "" "13DG1665" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00307948" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 05443, 05444, 06229 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000233371" "00139" "00307948" "00006" "Familial, autosomal recessive" "1y" "see paper; ..., Profound global developmental delay, Strabismus, Blindness, Seizures, Dysphagia, Developmental regression, Recurrent respiratory infections, Microcephaly, Hypotonia, Hypsarrhythmia, Abnormal thalamic size" "" "" "" "" "" "" "" "" "intellectual diability" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000309092" "00307948" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000309092" "GLRX5" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 6 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000553496" "0" "50" "14" "96001432" "96001432" "subst" "0" "01943" "GLRX5_000001" "g.96001432C>A" "" "" "" "GLRX5(NM_016417.2):c.6C>A (p.S2R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95535095C>A" "" "VUS" "" "0000553497" "0" "10" "14" "96009307" "96009307" "subst" "0" "02325" "GLRX5_000002" "g.96009307C>T" "" "" "" "GLRX5(NM_016417.3):c.296-977C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95542970C>T" "" "benign" "" "0000680088" "0" "10" "14" "96010424" "96010424" "subst" "0.123153" "02327" "GLRX5_000003" "g.96010424G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000683555" "3" "70" "14" "96001623" "96001623" "subst" "0" "00006" "GLRX5_000004" "g.96001623A>C" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PM1,PM2,PP3,PP1" "Germline" "" "" "0" "" "" "g.95535286A>C" "" "likely pathogenic (recessive)" "ACMG" "0000927841" "0" "70" "14" "96010355" "96010355" "subst" "0" "03779" "GLRX5_000005" "g.96010355G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000950306" "0" "10" "14" "96001410" "96001410" "subst" "0.003663" "02327" "GLRX5_000006" "g.96001410C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes GLRX5 ## Count = 6 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000553496" "00024599" "50" "6" "0" "6" "0" "c.6C>A" "r.(?)" "p.(Ser2Arg)" "" "0000553497" "00024599" "10" "296" "-977" "296" "-977" "c.296-977C>T" "r.(=)" "p.(=)" "" "0000680088" "00024599" "10" "436" "0" "436" "0" "c.436G>A" "r.(?)" "p.(Ala146Thr)" "" "0000683555" "00024599" "70" "197" "0" "197" "0" "c.197A>C" "r.(?)" "p.(Gln66Pro)" "" "0000927841" "00024599" "70" "367" "0" "367" "0" "c.367G>C" "r.(?)" "p.(Asp123His)" "" "0000950306" "00024599" "10" "-17" "0" "-17" "0" "c.-17C>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000309092" "0000683555"