### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NOP58) # 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}}" "NOP58" "NOP58 ribonucleoprotein" "2" "q33.1" "unknown" "NC_000002.11" "UD_133490697508" "" "https://www.LOVD.nl/NOP58" "" "1" "29926" "51602" "616742" "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/NOP58_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-06-23 11:12:39" "00006" "2025-06-23 11:19:09" ## 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}}" "00014691" "NOP58" "NOP58 ribonucleoprotein homolog (yeast)" "001" "NM_015934.3" "" "NP_057018.1" "" "" "" "-150" "1815" "1590" "203130515" "203168384" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "06486" "NEDMIBA" "Neurodevelopmental disorder with microcephaly and structural brain anomalies" "AR" "618492" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00465876" "" "" "" "1" "" "04858" "Bonde et al., 2025 (submitted)" "" "M" "yes" "Egypt" "" "0" "" "" "" "Pat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00465876" "06486" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 06486 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000351322" "06486" "00465876" "04858" "Familial, autosomal recessive" "02y04m" "global developmental delay, microcephaly, alobar holoprosencephaly, brachycephaly, short stature, reduced brain volume, simplified gyral pattern, hypoplastic corpus callosum, microphthalmia, optic atrophy, facial dysmorphism" "birth" "" "" "" "" "" "Neurodevelopmental disorder with microcephaly" "Neurodevelopmental disorder with microcephaly" ## 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}}" "0000467528" "00465876" "1" "04858" "04858" "2025-06-18 10:28:26" "" "" "SEQ-NG-I" "DNA" "blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 5 "{{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}}" "0000858243" "0" "30" "2" "203149103" "203149103" "subst" "0.000507792" "01943" "NOP58_000003" "g.203149103T>C" "" "" "" "NOP58(NM_015934.5):c.333T>C (p.V111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858244" "0" "30" "2" "203164983" "203164983" "subst" "4.3968E-6" "01943" "NOP58_000004" "g.203164983G>C" "" "" "" "NOP58(NM_015934.5):c.1295G>C (p.G432A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974863" "0" "30" "2" "203155896" "203155896" "subst" "0.00426209" "01804" "NOP58_000005" "g.203155896A>C" "" "" "" "NOP58(NM_015934.5):c.683A>C (p.(Glu228Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974864" "0" "50" "2" "203165091" "203165091" "subst" "0" "01804" "NOP58_000006" "g.203165091G>C" "" "" "" "NOP58(NM_015934.5):c.1402+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045374" "3" "90" "2" "203155062" "203155062" "subst" "0" "04858" "NOP58_000007" "g.203155062G>A" "" "Bonde et al., 2025 (submitted)" "" "" "synonymous variant affects splicing of NOP58 pre-mRNA (exon 7 skipping)" "Germline" "yes" "" "0" "" "" "g.202290339G>A" "" "likely pathogenic (recessive)" "other" ## 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 NOP58 ## Count = 5 "{{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}}" "0000858243" "00014691" "30" "333" "0" "333" "0" "c.333T>C" "r.(?)" "p.(Val111=)" "" "0000858244" "00014691" "30" "1295" "0" "1295" "0" "c.1295G>C" "r.(?)" "p.(Gly432Ala)" "" "0000974863" "00014691" "30" "683" "0" "683" "0" "c.683A>C" "r.(?)" "p.(Glu228Ala)" "" "0000974864" "00014691" "50" "1402" "1" "1402" "1" "c.1402+1G>C" "r.spl?" "p.?" "" "0001045374" "00014691" "90" "516" "0" "516" "0" "c.516G>A" "r.500_634del" "p.Ser145_Gly212delinsCys" "7" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000467528" "0001045374"