### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NRROS) # 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}}" "NRROS" "negative regulator of reactive oxygen species" "3" "q29" "unknown" "NC_000003.11" "UD_144983394164" "" "http://www.LOVD.nl/NRROS" "" "1" "24613" "375387" "615322" "1" "1" "1" "1" "Alias LRRC33.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/NRROS_codingDNA.html" "1" "" "" "-1" "" "-1" "00006" "2015-12-11 12:40:26" "" "" "00000" "2024-08-28 13:16:32" ## 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}}" "00024086" "NRROS" "negative regulator of reactive oxygen species" "001" "NM_198565.1" "" "NP_940967.1" "" "" "" "-104" "2361" "2079" "196366656" "196388875" "00006" "2015-12-11 12:43:11" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02534" "WDSTS" "Wiedemann-Steiner syndrome" "PG" "605130" "" "thick eyebrows, synophrys and thick eyelashes with vertically narrow and down-slanting palpebral fissures.  \r\nglobal developmental delay (HP:0001263); intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); short stature (HP:0004322); no obesity (-HP:0001513); digital abnormalities (HP_0011297); hypertrichosis over their forearms, legs and back" "" "00006" "2014-09-25 23:29:40" "00006" "2023-01-03 20:54:56" "06605" "SENEBAC" "Seizures, early-onset, with neurodegeneration and brain calcification" "" "618875" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NRROS" "06605" ## 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}}" "00056297" "" "" "" "2" "" "01482" "{PMID:Calvel 2015:26544196}" "2-generation family, affected boy and brother (different variants/phenotypes)" "F" "" "Poland" "" "0" "" "" "" "" "00296275" "" "" "" "3" "" "00006" "{PMID:Dong 2020:32197075}, {DOI:Dong 2020:10.1016/j.ajhg.2020.02.014}" "2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents, 1 from triplet" "F" "yes" "Iraq" "4y2m" "0" "" "" "" "Fam1PatII2" "00296276" "" "" "00296275" "1" "" "00006" "{PMID:Dong 2020:32197075}, {DOI:Dong 2020:10.1016/j.ajhg.2020.02.014}" "2 from triplet" "M" "yes" "Iraq" "3y3m" "0" "" "" "" "Fam1PatII3" "00296277" "" "" "00296275" "1" "" "00006" "{PMID:Dong 2020:32197075}, {DOI:Dong 2020:10.1016/j.ajhg.2020.02.014}" "sister" "F" "yes" "Iraq" "" "0" "" "" "" "Fam1PatII4" "00296278" "" "" "" "1" "" "00006" "{PMID:Dong 2020:32197075}, {DOI:Dong 2020:10.1016/j.ajhg.2020.02.014}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Iraq" "2y2m" "0" "" "" "" "Fam2PatII2" "00296279" "" "" "" "1" "" "00006" "{PMID:Dong 2020:32197075}, {DOI:Dong 2020:10.1016/j.ajhg.2020.02.014}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Italy" "" "0" "" "" "Sicily" "Fam3PatII3" "00296280" "" "" "" "1" "" "00006" "{PMID:Dong 2020:32197075}, {DOI:Dong 2020:10.1016/j.ajhg.2020.02.014}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Finland;Germany;Bulgaria" "" "0" "" "" "" "Fam4PatII2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00056297" "00198" "00056297" "02534" "00296275" "00198" "00296276" "00198" "00296277" "00198" "00296278" "00198" "00296279" "00198" "00296280" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02534, 06605 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Growth/Height_SDS}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000042920" "02534" "00056297" "01482" "Familial, autosomal dominant" "07y06m" "Intrauterine growth retardation\r\nPostnatal growth retardation\r\nShort palpebral fissures\r\nHypertelorism\r\nEpicanthus\r\nWide nasal bridge/broad nasal tip\r\nMicrognathia\r\nRib anomalies\r\nDelayed bone age\r\nConstipation\r\nLow hair line\r\nDevelopmental delay\r\nIntellectual disability\r\nHypotonia\r\nAmbiguous genitalia\r\nDiscordance between gender and karyotype\r\nAbnormal gonadal development\r\nNormal TSH, T4, GH, LH, high FSH, E2, low T levels" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000042953" "00198" "00056297" "00006" "Unknown" "" "46,XY sexual development (DSD), complete gonadal dysgenes" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223750" "00198" "00296275" "00006" "Familial, autosomal recessive" "4y2m" "see paper; ..., deceased;; axial hypotonia; 17m-refractory focal seizures; mild-moderate developmental delay to one year, then regression; MRI brain marked reduction of white matter volume, delayed myelination, thin corpus callosum (17m);" "7m" "" "" "" "" "" "" "" "" "" "" "" "" "0000223751" "00198" "00296276" "00006" "Familial, autosomal recessive" "3y3m" "see paper; ..., deceased;; axial hypotonia; limb hypertonia; 12m-refractory focal seizures, later development of epileptic spasms; mild-moderate developmental delay to one year, then regression; MRI brain marked reduction of white matter volume, delayed myelination, thin corpus callosum (17m);" "10m" "" "" "" "" "" "" "" "" "" "" "" "" "0000223752" "00198" "00296277" "00006" "Familial, autosomal recessive" "20m" "see paper; ..., axial hypotonia; limb hypertonia; 9m-epilepsy onset with febrile illness; normal development to 9m, then rapid regression following seizure onset; MRI brain diffuse global white matter loss (9m); cranial CT multiple scattered punctate calcifications in the periventricular, deep and subcortical white matter of both cerebral hemispheres (9m)" "9m" "" "" "" "" "" "" "" "" "" "" "" "" "0000223753" "00198" "00296278" "00006" "Familial, autosomal recessive" "2y2m" "see paper; ..., deceased;; axial hypotonia; limb hypertonia; refractory infantile spasms, 12m-myoclonic and clonic seizures; mild developmental delay in first year of life, then regression; MRI brain cerebral atrophy and delayed myelination (12m);" "1d" "" "" "" "" "" "" "" "" "" "" "" "" "0000223754" "00198" "00296279" "00006" "Familial, autosomal recessive" "9y3m" "see paper; ..., axial hypotonia; limb hypertonia; refractory epilepsy with tonic-clonic seizures, onset with febrile illness at 12m; normal development to 12m, then rapid regression following seizure onset; MRI brain cortical/gray matter atrophy, marked reduction of white matter volume, delayed myelination, corpus callosum hypoplasia (19m); cranial CT sparse calcic and punctate-like hyperdensities in subcortical and periventricular areas (12m)" "12m" "" "" "" "" "" "" "" "" "" "" "" "" "0000223755" "00198" "00296280" "00006" "Familial, autosomal recessive" "4y6m" "see paper; ..., axial hypotonia; limb hypertonia; 10m-refractory epilepsy with myoclonic seizures and complex partial seizures; mild developmental delay to 12m, then rapid regression with worsening of seizures; MRI brain severe cerebral and moderate cerebellar atrophy, periventricular leukomalacia, mild hypomyelination (16m); cranial CT small calcifications near gray-white matter junction in parietal regions (16m)" "6m" "" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000056248" "00056297" "1" "01482" "01482" "2015-12-09 15:04:31" "00006" "2015-12-11 12:57:47" "SEQ-NG" "DNA" "" "" "0000297447" "00296275" "1" "00006" "00006" "2020-04-04 18:08:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297448" "00296276" "1" "00006" "00006" "2020-04-04 18:08:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297449" "00296277" "1" "00006" "00006" "2020-04-04 18:08:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297450" "00296278" "1" "00006" "00006" "2020-04-04 18:08:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297451" "00296279" "1" "00006" "00006" "2020-04-04 18:08:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297452" "00296280" "1" "00006" "00006" "2020-04-04 18:08:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000056248" "KMT2A" "0000056248" "NRROS" "0000056248" "ZNF674" "0000297447" "NRROS" "0000297448" "NRROS" "0000297449" "NRROS" "0000297450" "NRROS" "0000297451" "NRROS" "0000297452" "NRROS" ## 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 = 12 "{{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}}" "0000086525" "0" "70" "3" "196388310" "196388310" "subst" "0" "00006" "NRROS_000001" "g.196388310G>A" "" "{PMID:Calvel 2015:26544196}" "" "" "might be associated with 46,XY DSD with gonadal dysgenesis phenotype" "De novo" "" "" "0" "" "" "g.196661439G>A" "" "likely pathogenic" "" "0000086526" "0" "70" "3" "196388310" "196388310" "subst" "0" "00006" "NRROS_000001" "g.196388310G>A" "" "{PMID:Calvel 2015:26544196}" "" "" "might be associated with 46,XY DSD with gonadal dysgenesis phenotype" "De novo" "" "" "0" "" "" "g.196661439G>A" "" "likely pathogenic" "" "0000660076" "3" "90" "3" "196388495" "196388495" "del" "0" "00006" "NRROS_000003" "g.196388495del" "" "{PMID:Dong 2020:32197075}, {DOI:Dong 2020:10.1016/j.ajhg.2020.02.014}" "" "1981delC" "" "Germline" "yes" "" "0" "" "" "g.196661624del" "" "pathogenic (recessive)" "" "0000660077" "3" "90" "3" "196388495" "196388495" "del" "0" "00006" "NRROS_000003" "g.196388495del" "" "{PMID:Dong 2020:32197075}, {DOI:Dong 2020:10.1016/j.ajhg.2020.02.014}" "" "1981delC" "" "Germline" "yes" "" "0" "" "" "g.196661624del" "" "pathogenic (recessive)" "" "0000660078" "3" "90" "3" "196388495" "196388495" "del" "0" "00006" "NRROS_000003" "g.196388495del" "" "{PMID:Dong 2020:32197075}, {DOI:Dong 2020:10.1016/j.ajhg.2020.02.014}" "" "1981delC" "" "Germline" "yes" "" "0" "" "" "g.196661624del" "" "pathogenic (recessive)" "" "0000660079" "3" "90" "3" "196388495" "196388495" "del" "0" "00006" "NRROS_000003" "g.196388495del" "" "{PMID:Dong 2020:32197075}, {DOI:Dong 2020:10.1016/j.ajhg.2020.02.014}" "" "1981delC" "" "Germline" "" "" "0" "" "" "g.196661624del" "" "pathogenic (recessive)" "" "0000660080" "3" "90" "3" "196388158" "196388158" "del" "0" "00006" "NRROS_000004" "g.196388158del" "" "{PMID:Dong 2020:32197075}, {DOI:Dong 2020:10.1016/j.ajhg.2020.02.014}" "" "1644delG" "" "Germline" "" "" "0" "" "" "g.196661287del" "" "pathogenic (recessive)" "" "0000660081" "11" "90" "3" "196386704" "196386704" "del" "0" "00006" "NRROS_000005" "g.196386704del" "" "{PMID:Dong 2020:32197075}, {DOI:Dong 2020:10.1016/j.ajhg.2020.02.014}" "" "190delC" "" "Germline" "" "" "0" "" "" "g.196659833del" "" "pathogenic (recessive)" "" "0000660082" "21" "90" "3" "196381439" "196381439" "subst" "0" "00006" "NRROS_000006" "g.196381439T>C" "" "{PMID:Dong 2020:32197075}, {DOI:Dong 2020:10.1016/j.ajhg.2020.02.014}" "" "" "" "Germline" "" "" "0" "" "" "g.196654568T>C" "" "pathogenic (recessive)" "" "0000719325" "0" "50" "3" "196387116" "196387116" "subst" "0" "01943" "NRROS_000007" "g.196387116T>C" "" "" "" "NRROS(NM_198565.3):c.602T>C (p.F201S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993530" "0" "30" "3" "196381480" "196381480" "subst" "0.000442884" "01804" "NRROS_000008" "g.196381480G>A" "" "" "" "NRROS(NM_198565.1):c.70G>A (p.(Gly24Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993531" "0" "30" "3" "196386693" "196386693" "subst" "0.000394501" "01804" "NRROS_000009" "g.196386693G>A" "" "" "" "NRROS(NM_198565.1):c.179G>A (p.(Arg60Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 NRROS ## Count = 12 "{{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}}" "0000086525" "00024086" "70" "1796" "0" "1796" "0" "c.1796G>A" "r.(?)" "p.(Cys599Tyr)" "3" "0000086526" "00024086" "70" "1796" "0" "1796" "0" "c.1796G>A" "r.(?)" "p.(Cys599Tyr)" "3" "0000660076" "00024086" "90" "1981" "0" "1981" "0" "c.1981del" "r.(?)" "p.(Leu661Serfs*97)" "" "0000660077" "00024086" "90" "1981" "0" "1981" "0" "c.1981del" "r.(?)" "p.(Leu661Serfs*97)" "" "0000660078" "00024086" "90" "1981" "0" "1981" "0" "c.1981del" "r.(?)" "p.(Leu661Serfs*97)" "" "0000660079" "00024086" "90" "1981" "0" "1981" "0" "c.1981del" "r.(?)" "p.(Leu661Serfs*97)" "" "0000660080" "00024086" "90" "1644" "0" "1644" "0" "c.1644del" "r.(?)" "p.(Thr549Profs*82)" "" "0000660081" "00024086" "90" "190" "0" "190" "0" "c.190del" "r.(?)" "p.(Leu64Trpfs*81)" "" "0000660082" "00024086" "90" "29" "0" "29" "0" "c.29T>C" "r.(?)" "p.(Leu10Pro)" "" "0000719325" "00024086" "50" "602" "0" "602" "0" "c.602T>C" "r.(?)" "p.(Phe201Ser)" "" "0000993530" "00024086" "30" "70" "0" "70" "0" "c.70G>A" "r.(?)" "p.(Gly24Arg)" "" "0000993531" "00024086" "30" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Arg60Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000056248" "0000086525" "0000056248" "0000086526" "0000297447" "0000660076" "0000297448" "0000660077" "0000297449" "0000660078" "0000297450" "0000660079" "0000297451" "0000660080" "0000297452" "0000660081" "0000297452" "0000660082"