### LOVD-version 3000-30b ### 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" "2025-05-05 21:14:00" ## 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 = 3 "{{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" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "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 = 7 "{{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" "00459419" "" "" "" "1" "" "00006" "{PMID:Bayam 2024:39609633}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Italy" "" "0" "" "" "Cilento" "Fam4PatII1" "00459420" "" "" "" "1" "" "00006" "{PMID:Bayam 2024:39609633}" "sister" "F" "yes" "Italy" "" "0" "" "" "Cilento" "Fam4PatII3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00269850" "00139" "00269851" "00139" "00269852" "00139" "00269853" "00139" "00269854" "00139" "00459419" "05611" "00459420" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 05611, 06779 ## Count = 7 "{{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" "0000347495" "05611" "00459419" "00006" "Familial, autosomal recessive" "1y5m" "see paperp; C-section due to failure dilatation uterine cervix; birth 40w, elective C-section, weight 3.52kg, length 52cm, OFC 35cm; weight 8,6kg (-1 SD), length 78cm (+1.5 SD), OFC 42.9cm (-2.69 SD); profound global development delay; bedridden; speech global hyporeactivity; ultrasound brain birth-hypoplasia corpus callosum, hypotrophy pon/midbrain, colpocephaly and supratentorial cortical atrophy, diffuse hypomyelination with quantitative reduction white matter; EEG continuous spikes, polyspikes, spikes-waves and polyspikes-waves on the bilateral parietal - occipital central - temporal regions, intermittent light stimulation is negative, multifocal paroxysmal activity in disorganized pattern; coordination very poor; marked hypotonia; no hyperreflexia; no ataxia; normal sensory; profound intellectual disability; clonic seizures first year treated with antiepileptic drugs; no autism; severe psychomotor retardation; hypertelorism, epicanthus, hyper thick upper and lower lips; no anomalies extremities; significant feeding difficulty; no hert defects" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347496" "05611" "00459420" "00006" "Familial, autosomal recessive" "6m" "see paper; ..., pregnancy unremarkable; birth 40w, elective C-section, weight 3.35kg, length 51cm, OFC 35cm; weight 5kg (-1 SD), length 70cm (+1 SD), OFC 40cm (-1.93 SD); profound global development dela; bedridden; speech no meaningful words; ultrasound brain birth-hypoplasia corpus callosum, hypotrophy pon/midbrain, colpocephaly and supratentorial cortical atrophy, diffuse hypomyelination with quantitative reduction white matter; EEG continuous spikes, polyspikes, spikes-waves and polyspikes-waves on the bilateral parietal - occipital central - temporal regions, intermittent light stimulation is negative, multifocal paroxysmal activity in disorganized pattern; coordination very poor; marked hypotonia; no hyperreflexia; no ataxia; normal sensory; profound intellectual disability; clonic seizures first year treated with antiepileptic drugs; no autism; severe psychomotor retardation; hypertelorism, epicanthus, hyper thick upper and lower lips; no anomalies extremities; significant feeding difficulty; no hert defects" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{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" "0000461042" "00459419" "1" "00006" "00006" "2024-12-27 14:26:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461043" "00459420" "1" "00006" "00006" "2024-12-27 14:26:09" "" "" "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 = 18 "{{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" "" "0000977987" "0" "50" "8" "107371870" "107371870" "subst" "0" "01804" "OXR1_000008" "g.107371870T>G" "" "" "" "OXR1(NM_001198533.2):c.23+6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977988" "0" "30" "8" "107531376" "107531376" "subst" "0.000620582" "01804" "OXR1_000009" "g.107531376C>T" "" "" "" "OXR1(NM_001198533.2):c.220+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977989" "0" "30" "8" "107738538" "107738538" "subst" "0" "01804" "OXR1_000010" "g.107738538G>C" "" "" "" "OXR1(NM_001198534.1):c.66+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977990" "0" "50" "8" "107751693" "107751693" "subst" "0" "01804" "OXR1_000011" "g.107751693C>T" "" "" "" "OXR1(NM_001198533.2):c.2045C>T (p.(Thr682Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001020124" "0" "50" "8" "107738486" "107738486" "subst" "0.00390809" "00006" "OXR1_000012" "g.107738486G>A" "" "{PMID:Bayam 2024:39609633}" "" "NM 001198534.1:c.15G>A (Trp5*)" "gene related to recessive neurodevelopmental disorders; variant in low expressed isoform" "Germline" "" "" "0" "" "" "g.106726258G>A" "" "VUS" "" "0001020134" "0" "50" "8" "107738486" "107738486" "subst" "0.00390809" "00006" "OXR1_000012" "g.107738486G>A" "" "{PMID:Bayam 2024:39609633}" "" "NM_001198534.1:c.15G>A (Trp5*)" "gene related to recessive neurodevelopmental disorders; variant in low expressed isoform" "Germline" "" "" "0" "" "" "g.106726258G>A" "" "VUS" "" "0001036688" "0" "30" "8" "107696594" "107696594" "subst" "8.20843E-6" "01804" "OXR1_000013" "g.107696594A>G" "" "" "" "OXR1(NM_001198533.2):c.525+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036689" "0" "50" "8" "107751744" "107751744" "subst" "0" "01804" "OXR1_000014" "g.107751744A>G" "" "" "" "OXR1(NM_001198533.2):c.2096A>G (p.(Glu699Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036690" "0" "50" "8" "107754535" "107754535" "subst" "8.18592E-5" "01804" "OXR1_000015" "g.107754535C>T" "" "" "" "OXR1(NM_001198533.2):c.2402C>T (p.(Pro801Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 = 18 "{{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" "2163" "1" "2163" "1" "NM_018002.3:c.2163+1G>T" "r.spl" "p.?" "" "0000624840" "00025483" "90" "1324" "0" "1324" "0" "NM_018002.3:c.1324del" "r.(?)" "p.(Ser442Valfs*2)" "" "0000624841" "00025483" "90" "2317" "-1" "2317" "-1" "NM_018002.3:c.2317-1G>C" "r.spl" "p.?" "" "0000624842" "00025483" "90" "2317" "-1" "2317" "-1" "NM_018002.3:c.2317-1G>C" "r.spl" "p.?" "" "0000624843" "00025483" "90" "2317" "-1" "2317" "-1" "NM_018002.3:c.2317-1G>C" "r.spl" "p.?" "" "0000624844" "00025483" "90" "1100" "0" "1100" "0" "NM_018002.3:c.1100C>G" "r.(?)" "p.(Ser367*)" "" "0000803401" "00025483" "70" "1957" "-11275" "1957" "-11275" "c.1957-11275T>C" "r.(=)" "p.(=)" "" "0000977987" "00025483" "50" "23" "6" "23" "6" "c.23+6T>G" "r.(=)" "p.(=)" "" "0000977988" "00025483" "30" "220" "9" "220" "9" "c.220+9C>T" "r.(=)" "p.(=)" "" "0000977989" "00025483" "30" "1957" "-11210" "1957" "-11210" "c.1957-11210G>C" "r.(=)" "p.(=)" "" "0000977990" "00025483" "50" "2045" "0" "2045" "0" "c.2045C>T" "r.(?)" "p.(Thr682Ile)" "" "0001020124" "00025483" "50" "1957" "-11262" "1957" "-11262" "c.1957-11262G>A" "r.(?)" "p.(=)" "" "0001020134" "00025483" "50" "1957" "-11262" "1957" "-11262" "c.1957-11262G>A" "r.(?)" "p.(=)" "" "0001036688" "00025483" "30" "525" "7" "525" "7" "c.525+7A>G" "r.(=)" "p.(=)" "" "0001036689" "00025483" "50" "2096" "0" "2096" "0" "c.2096A>G" "r.(?)" "p.(Glu699Gly)" "" "0001036690" "00025483" "50" "2402" "0" "2402" "0" "c.2402C>T" "r.(?)" "p.(Pro801Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000271002" "0000624839" "0000271002" "0000624844" "0000271003" "0000624840" "0000271004" "0000624841" "0000271005" "0000624842" "0000271006" "0000624843" "0000461042" "0001020124" "0000461043" "0001020134"