### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NXN) # 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}}" "NXN" "nucleoredoxin" "17" "p13" "unknown" "NC_000017.10" "UD_132437293844" "" "https://www.LOVD.nl/NXN" "" "1" "18008" "64359" "612895" "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/NXN_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-04-01 15:34:12" "00000" "2025-11-01 13:22:20" ## 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}}" "00025552" "NXN" "transcript variant 1" "001" "NM_022463.4" "" "NP_071908.2" "" "" "" "-80" "2944" "1308" "882998" "702553" "00006" "2020-09-29 14:41:35" "" "" ## 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}}" "00180" "RRS" "Robinow syndrome, autosomal recessive (RRS)" "AD" "" "" "" "" "00115" "2013-08-28 18:26:52" "00006" "2021-12-10 21:51:32" "05843" "RRS2" "Robinow, autosomal recessive syndrome, type 2 (RRS2)" "AR" "618529" "" "" "" "00006" "2020-09-29 10:04:29" "00006" "2021-12-10 21:51:32" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NXN" "00180" "NXN" "05843" ## 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}}" "00311850" "" "" "" "1" "" "00006" "{PMID:White 2018:29276006}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "BAB8841" "00311851" "" "" "" "2" "" "00006" "{PMID:White 2018:29276006}" "2-generation family, 2 affected sisters" "F" "no" "" "" "0" "" "" "" "BAB9847" "00311852" "" "" "00311851" "1" "" "00006" "{PMID:White 2018:29276006}" "" "F" "no" "" "" "0" "" "" "" "BAB9844" "00394790" "" "" "" "1" "" "00006" "{PMID:Zhang 2021:33048444}" "adopted" "M" "" "United States" "" "0" "" "" "" "BAB10973" "00438603" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0054" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00311850" "00180" "00311851" "00180" "00311852" "00180" "00394790" "00180" "00438603" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00180, 05843, 06906 ## 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}}" "0000237098" "00180" "00311850" "00006" "Familial, autosomal recessive" "5y" "macrocephaly, no frontal bossing, high forehead, no midface hypoplasia, hypertelorism, long eyelashes, prominent eyes, anteverted nares, no wide nasal bridge, no short nose, long philtrum, triangular mouth, gingival hyperplasia, absent uvula, no cleft soft palate, dental anomalies, micrognathia; mesomelia; brachydactyly; clinodactyly; no camptodactyly; broad thumb; no fetal finger/toe pads; broad 1st toe; renal anomalies; cardiac anomalies" "" "" "" "" "" "" "" "RRS2" "Robinow syndrome" "0000237099" "00180" "00311851" "00006" "Familial, autosomal recessive" "2y5m" "relative macrocephaly, frontal bossing, high forehead, midface hypoplasia, hypertelorism, no long eyelashes, prominent eyes, anteverted nares, wide nasal bridge, short nose, long philtrum, triangular mouth, gingival hyperplasia, no absent uvula, no cleft soft palate, no dental anomalies, micrognathia; mesomelia, improved with age; brachydactyly; clinodactyly; camptodactyly; broad thumb; fetal finger/toe pads; broad 1st toe; no genital hypoplasia; no renal anomalies; no cardiac anomalies" "" "" "" "" "" "" "" "RRS2" "Robinow syndrome" "0000237100" "00180" "00311852" "00006" "Familial, autosomal recessive" "28d" "relative macrocephaly, frontal bossing, high forehead, midface hypoplasia, hypertelorism, no long eyelashes, prominent eyes, anteverted nares, wide nasal bridge, short nose, long philtrum, triangular mouth, gingival hyperplasia, absent uvula, cleft soft palate, micrognathia; mesomelia; brachydactyly; clinodactyly; camptodactyly; broad thumb; fetal finger/toe pads; broad 1st toe; no genital hypoplasia; no renal anomalies; no cardiac anomalies" "" "" "" "" "" "" "" "RRS2" "Robinow syndrome" "0000287990" "00180" "00394790" "00006" "Familial, autosomal recessive" "" "core nervous system anomalies, seizure, facial dysmorphism" "" "" "" "" "" "" "" "RRS2" "Robinow syndrome" "0000328506" "06906" "00438603" "00006" "Isolated (sporadic)" "23y" "see paper; ..., global developmental delay, moderate intellectual disability; 5m-seizure; EEG generalized spike-wave, poly-spike and wave; MRI brain delayed myelination, 20y-normal; neonatal hypotonia, scoliosis, intractable seizures until puberty, no seizures under LEV and LTG" "" "" "" "" "" "" "" "MRD56" "developmental and epileptic encephalopathy" ## 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}}" "0000313022" "00311850" "1" "00006" "00006" "2020-09-29 15:19:08" "" "" "SEQ" "DNA" "" "WES" "0000313023" "00311851" "1" "00006" "00006" "2020-09-29 15:19:08" "" "" "SEQ" "DNA" "" "WES" "0000313024" "00311852" "1" "00006" "00006" "2020-09-29 15:19:08" "" "" "SEQ" "DNA" "" "WES" "0000396037" "00394790" "1" "00006" "00006" "2021-12-02 09:11:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES, WGS" "0000440085" "00438603" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000313022" "NXN" "0000313023" "NXN" "0000313024" "NXN" ## 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 = 13 "{{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}}" "0000694745" "3" "90" "17" "725685" "725685" "subst" "0" "00006" "NXN_000003" "g.725685G>A" "" "{PMID:White 2018:29276006}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.822445G>A" "" "pathogenic (recessive)" "" "0000694746" "21" "90" "17" "704265" "704267" "del" "0" "00006" "NXN_000002" "g.704265_704267del" "" "{PMID:White 2018:29276006}" "" "" "" "Germline" "" "" "0" "" "" "g.801025_801027del" "" "pathogenic (recessive)" "" "0000694747" "21" "90" "17" "704265" "704267" "del" "0" "00006" "NXN_000002" "g.704265_704267del" "" "{PMID:White 2018:29276006}" "" "" "" "Germline" "" "" "0" "" "" "g.801025_801027del" "" "pathogenic (recessive)" "" "0000694759" "11" "90" "17" "805043" "889090" "del" "0" "00006" "NXN_000001" "g.805043_889090del" "" "{PMID:White 2018:29276006}" "" "" "84 kb deletion" "Germline" "yes" "" "0" "" "" "g.901803_985850del" "" "pathogenic (recessive)" "" "0000694760" "11" "90" "17" "805043" "889090" "del" "0" "00006" "NXN_000001" "g.805043_889090del" "" "{PMID:White 2018:29276006}" "" "" "" "Germline" "yes" "" "0" "" "" "g.901803_985850del" "" "pathogenic (recessive)" "" "0000827601" "1" "90" "17" "722682" "722682" "subst" "0" "00006" "NXN_000004" "g.722682G>A" "" "{PMID:Zhang 2021:33048444}" "" "" "ACMG PVS1, PM1, PM2, PM3, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000827602" "2" "90" "17" "0" "0" "" "0" "00006" "NXN_000005" "g.(pter)_1026795del" "" "{PMID:Zhang 2021:33048444}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "hg19 del(17)(p13.3)" "" "likely pathogenic (recessive)" "ACMG" "0000894381" "0" "30" "17" "882724" "882724" "subst" "0" "02325" "NXN_000006" "g.882724C>T" "" "" "" "NXN(NM_022463.5):c.195G>A (p.A65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000936506" "0" "50" "17" "734018" "743114" "del" "0" "00006" "NXN_000007" "g.734018_743114del" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.830778_839874del" "" "VUS" "" "0000982779" "0" "50" "17" "725603" "725603" "subst" "0" "01804" "NXN_000008" "g.725603G>T" "" "" "" "NXN(NM_022463.5):c.707C>A (p.(Ala236Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003642" "0" "30" "17" "725684" "725684" "subst" "0" "01804" "NXN_000009" "g.725684C>T" "" "" "" "NXN(NM_022463.4):c.626G>A (p.(Arg209Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055762" "0" "50" "17" "704289" "704289" "subst" "0" "01804" "NXN_000010" "g.704289C>T" "" "" "" "NXN(NM_022463.5):c.1208G>A (p.(Arg403Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055763" "0" "50" "17" "882696" "882697" "ins" "0" "01804" "NXN_000011" "g.882696_882697insA" "" "" "" "NXN(NM_022463.5):c.222_223insT (p.(Gly75Trpfs*83))" "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 NXN ## Count = 13 "{{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}}" "0000694745" "00025552" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209*)" "" "0000694746" "00025552" "90" "1234" "0" "1236" "0" "c.1234_1236del" "r.(?)" "p.(Glu412del)" "" "0000694747" "00025552" "90" "1234" "0" "1236" "0" "c.1234_1236del" "r.(?)" "p.(Glu412del)" "" "0000694759" "00025552" "90" "0" "0" "0" "0" "c.-80_361-75725{0}" "r.0?" "p.0?" "_1_1i" "0000694760" "00025552" "90" "0" "0" "0" "0" "c.-80_361-75725{0}" "r.0?" "p.0?" "_1_1i" "0000827601" "00025552" "90" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Gln273*)" "" "0000827602" "00025552" "90" "0" "0" "0" "0" "c.-80_*1636{0}" "r.0" "p.0" "_1_8_" "0000894381" "00025552" "30" "195" "0" "195" "0" "c.195G>A" "r.(?)" "p.(Ala65=)" "" "0000936506" "00025552" "50" "361" "-13796" "361" "-4700" "c.361-13796_361-4700del" "r.(?)" "p.(=)" "1i" "0000982779" "00025552" "50" "707" "0" "707" "0" "c.707C>A" "r.(?)" "p.(Ala236Glu)" "" "0001003642" "00025552" "30" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209Gln)" "" "0001055762" "00025552" "50" "1208" "0" "1208" "0" "c.1208G>A" "r.(?)" "p.(Arg403Gln)" "" "0001055763" "00025552" "50" "222" "0" "223" "0" "c.222_223insT" "r.(?)" "p.(Gly75Trpfs*83)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000313022" "0000694745" "0000313023" "0000694746" "0000313023" "0000694759" "0000313024" "0000694747" "0000313024" "0000694760" "0000396037" "0000827601" "0000396037" "0000827602" "0000440085" "0000936506"