### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = OXR1) # 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}}" "OXR1" "oxidation resistance 1" "8" "q23" "unknown" "NC_000008.10" "UD_132609942573" "" "https://www.LOVD.nl/OXR1" "" "1" "15822" "55074" "605609" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/OXR1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-12-07 16:35:50" "00000" "2021-09-17 14:40:49" ## 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}}" "00025483" "OXR1" "transcript variant 4" "001" "NM_001198533.1" "" "NP_001185462.1" "" "" "" "-328" "4375" "2622" "107282406" "107764922" "00006" "2019-12-07 16:40:13" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "06779" "CHEGDD" "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay" "AR" "213000" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "OXR1" "00139" "OXR1" "06779" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00269850" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31785787}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "white" "Fam1PatII1" "00269851" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31785787}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "Maghreb, NW Africa" "Fam2PatII3" "00269852" "" "" "" "3" "" "00006" "{PMID:Wang 2019:31785787}" "2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents" "F" "yes" "" "11y" "0" "" "" "Arab" "Fam3PatII1" "00269853" "" "" "00269852" "1" "" "00006" "{PMID:Wang 2019:31785787}" "" "M" "yes" "" "" "0" "" "" "Arab" "Fam3PatII2" "00269854" "" "" "00269852" "1" "" "00006" "{PMID:Wang 2019:31785787}" "" "M" "yes" "" "" "0" "" "" "Arab" "Fam3PatII3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00269850" "00139" "00269851" "00139" "00269852" "00139" "00269853" "00139" "00269854" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 06779 ## Count = 5 "{{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}}" "0000207643" "00139" "00269850" "00006" "Familial, autosomal recessive" "20y" "hypotonia; developmental delay; intellectual disability; speech delay; epilepsy; cerebellar dysplasia/atrophy; scoliosis" "" "" "" "" "" "" "" "" "intellectual disability" "0000207644" "00139" "00269851" "00006" "Familial, autosomal recessive" "12y" "hypotonia; developmental delay; intellectual disability; speech delay; epilepsy; cerebellar dysplasia/atrophy" "" "" "" "" "" "" "" "" "intellectual disability" "0000207645" "00139" "00269852" "00006" "Familial, autosomal recessive" "" "11y-deceased; no hypotonia; developmental delay; intellectual disability; speech delay; epilepsy; cerebellar dysplasia/atrophy" "" "" "" "" "" "" "" "" "intellectual disability" "0000207646" "00139" "00269853" "00006" "Familial, autosomal recessive" "15y" "hypotonia; developmental delay; intellectual disability; speech delay; epilepsy; cerebellar dysplasia/atrophy; scoliosis" "" "" "" "" "" "" "" "" "intellectual disability" "0000207647" "00139" "00269854" "00006" "Familial, autosomal recessive" "13y" "hypotonia; developmental delay; intellectual disability; speech delay; epilepsy; cerebellar dysplasia/atrophy" "" "" "" "" "" "" "" "" "intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000271002" "00269850" "1" "00006" "00006" "2019-12-07 17:14:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000271003" "00269851" "1" "00006" "00006" "2019-12-07 17:14:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000271004" "00269852" "1" "00006" "00006" "2019-12-07 17:14:03" "" "" "SEQ" "DNA" "" "" "0000271005" "00269853" "1" "00006" "00006" "2019-12-07 17:14:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000271006" "00269854" "1" "00006" "00006" "2019-12-07 17:14:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000271002" "OXR1" "0000271003" "OXR1" "0000271004" "OXR1" "0000271005" "OXR1" "0000271006" "OXR1" ## 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 = 9 "{{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}}" "0000533528" "0" "30" "8" "107531287" "107531287" "subst" "0.000176507" "01943" "OXR1_000001" "g.107531287T>C" "" "" "" "OXR1(NM_001198533.1):c.140T>C (p.I47T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106519059T>C" "" "likely benign" "" "0000611401" "0" "50" "8" "107752649" "107752649" "subst" "0" "01943" "OXR1_000002" "g.107752649T>A" "" "" "" "OXR1(NM_001198533.1):c.2242T>A (p.L748M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106740421T>A" "" "VUS" "" "0000624839" "21" "90" "8" "107751812" "107751812" "subst" "0" "00006" "OXR1_000005" "g.107751812G>T" "" "{PMID:Wang 2019:31785787}" "" "NM_018002.3:c.2082+1G>T" "Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.106739584G>T" "" "pathogenic (recessive)" "" "0000624840" "3" "90" "8" "107719073" "107719073" "del" "0" "00006" "OXR1_000004" "g.107719073del" "" "{PMID:Wang 2019:31785787}" "" "1324delA" "Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.106706845del" "" "pathogenic (recessive)" "" "0000624841" "3" "90" "8" "107754449" "107754449" "subst" "0" "00006" "OXR1_000006" "g.107754449G>C" "" "{PMID:Wang 2019:31785787}" "" "NM_018002.3:c.2236-1G>C" "Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.106742221G>C" "" "pathogenic (recessive)" "" "0000624842" "3" "90" "8" "107754449" "107754449" "subst" "0" "00006" "OXR1_000006" "g.107754449G>C" "" "{PMID:Wang 2019:31785787}" "" "NM_018002.3:c.2236-1G>C" "Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.106742221G>C" "" "pathogenic (recessive)" "" "0000624843" "3" "90" "8" "107754449" "107754449" "subst" "0" "00006" "OXR1_000006" "g.107754449G>C" "" "{PMID:Wang 2019:31785787}" "" "NM_018002.3:c.2236-1G>C" "Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.106742221G>C" "" "pathogenic (recessive)" "" "0000624844" "11" "90" "8" "107718849" "107718849" "subst" "0" "00006" "OXR1_000003" "g.107718849C>G" "" "{PMID:Wang 2019:31785787}" "" "" "Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.106706621C>G" "" "pathogenic (recessive)" "" "0000803401" "0" "70" "8" "107738473" "107738473" "subst" "0" "02325" "OXR1_000007" "g.107738473T>C" "" "" "" "OXR1(NM_001198534.1):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 OXR1 ## Count = 9 "{{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}}" "0000533528" "00025483" "30" "140" "0" "140" "0" "c.140T>C" "r.(?)" "p.(Ile47Thr)" "" "0000611401" "00025483" "50" "2242" "0" "2242" "0" "c.2242T>A" "r.(?)" "p.(Leu748Met)" "" "0000624839" "00025483" "90" "" "0" "" "0" "NM_018002.3:c.2163+1G>T" "r.spl" "p.?" "" "0000624840" "00025483" "90" "" "0" "" "0" "NM_018002.3:c.1324del" "r.(?)" "p.(Ser442Valfs*2)" "" "0000624841" "00025483" "90" "" "0" "" "0" "NM_018002.3:c.2317-1G>C" "r.spl" "p.?" "" "0000624842" "00025483" "90" "" "0" "" "0" "NM_018002.3:c.2317-1G>C" "r.spl" "p.?" "" "0000624843" "00025483" "90" "" "0" "" "0" "NM_018002.3:c.2317-1G>C" "r.spl" "p.?" "" "0000624844" "00025483" "90" "" "0" "" "0" "NM_018002.3:c.1100C>G" "r.(?)" "p.(Ser367*)" "" "0000803401" "00025483" "70" "1957" "-11275" "1957" "-11275" "c.1957-11275T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000271002" "0000624839" "0000271002" "0000624844" "0000271003" "0000624840" "0000271004" "0000624841" "0000271005" "0000624842" "0000271006" "0000624843"