### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LINGO4) # 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}}" "LINGO4" "leucine rich repeat and Ig domain containing 4" "1" "q21.3" "unknown" "NC_000001.10" "UD_136060663136" "" "https://www.LOVD.nl/LINGO4" "" "1" "31814" "339398" "609794" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-12-19 19:41:31" "00006" "2025-12-21 09:59:21" ## 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}}" "00011412" "LINGO4" "leucine rich repeat and Ig domain containing 4" "001" "NM_001004432.2" "" "NP_001004432.1" "" "" "" "-190" "2416" "1782" "151777882" "151772765" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00108" "DYT" "dystonia (DYT)" "" "" "" "" "" "00054" "2013-01-24 21:46:00" "00006" "2018-04-03 21:21:00" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LINGO4" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00471383" "" "" "" "1" "" "00006" "{PMID:Zech 2020:33098801}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "IS-DYS-397" "00471384" "" "" "" "2" "" "00006" "{PMID:Zech 2020:33098801}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "NDD-IH-2-1/2" "00471385" "" "" "" "1" "" "00006" "{PMID:Zech 2020:33098801}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "NDD-GM-5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00471383" "00108" "00471384" "05611" "00471385" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00108, 05611 ## Count = 3 "{{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}}" "0000356220" "00108" "00471383" "00006" "Familial, autosomal recessive" "" "infancy-onset generalized dystonia, abnormal posture; developmental delay, hypotonia; intellectual disability; speech impairment; motor impairment; MRI brain normal" "" "" "" "" "" "" "" "" "dystonia" "0000356222" "05611" "00471385" "00006" "Familial, autosomal recessive" "" "no dystonia, normal posture; developmental delay, hypotonia; intellectual disability; speech impairment; motor impairment; failure to thrive; MRI brain normal" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000356223" "05611" "00471384" "00006" "Familial, autosomal recessive" "" "no dystonia, normal posture; developmental delay, hypotonia; intellectual disability; speech impairment; motor impairment; failure to thrive; seizures (1/2)" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000473053" "00471383" "1" "00006" "00006" "2025-12-19 19:29:30" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000473054" "00471384" "1" "00006" "00006" "2025-12-19 19:35:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000473055" "00471385" "1" "00006" "00006" "2025-12-19 19:40:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio 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 = 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}}" "0000307200" "0" "30" "1" "151780099" "151780099" "subst" "0.0058914" "01943" "RORC_000002" "g.151780099T>C" "" "" "" "RORC(NM_005060.4):c.1406A>G (p.K469R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151807623T>C" "" "likely benign" "" "0000307201" "0" "30" "1" "151780017" "151780017" "subst" "4.46704E-5" "01943" "RORC_000001" "g.151780017G>A" "" "" "" "RORC(NM_005060.4):c.1488C>T (p.A496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151807541G>A" "" "likely benign" "" "0000320985" "0" "50" "1" "151773455" "151773455" "subst" "5.28438E-5" "01804" "LINGO4_000001" "g.151773455G>A" "" "" "" "LINGO4(NM_001004432.2):c.1726C>T (p.(Arg576Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151800979G>A" "" "VUS" "" "0000320986" "0" "50" "1" "151774034" "151774034" "subst" "0.00059159" "01804" "LINGO4_000002" "g.151774034G>C" "" "" "" "LINGO4(NM_001004432.2):c.1147C>G (p.(Pro383Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151801558G>C" "" "VUS" "" "0000990276" "0" "50" "1" "151774318" "151774318" "subst" "0.000207115" "02325" "LINGO4_000003" "g.151774318A>T" "" "" "" "LINGO4(NM_001004432.4):c.863T>A (p.(Ile288Asn), p.I288N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001031258" "0" "50" "1" "151774111" "151774111" "subst" "6.90821E-5" "01804" "LINGO4_000004" "g.151774111C>T" "" "" "" "LINGO4(NM_001004432.4):c.1070G>A (p.(Gly357Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050258" "0" "50" "1" "151774039" "151774039" "del" "0" "01804" "LINGO4_000005" "g.151774039del" "" "" "" "LINGO4(NM_001004432.4):c.1148del (p.(Pro383Leufs*14))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050259" "0" "50" "1" "151774318" "151774318" "subst" "0.000207115" "01804" "LINGO4_000003" "g.151774318A>T" "" "" "" "LINGO4(NM_001004432.4):c.863T>A (p.(Ile288Asn), p.I288N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001061822" "11" "70" "1" "151774502" "151774502" "subst" "0.000277635" "00006" "LINGO4_000006" "g.151774502G>T" "" "{PMID:Zech 2020:33098801}" "" "" "candidate disease gene" "Germline" "" "" "0" "" "" "g.151802026G>T" "" "likely pathogenic (recessive)" "" "0001061823" "21" "70" "1" "151773919" "151773919" "subst" "0.000158583" "00006" "LINGO4_000007" "g.151773919C>T" "" "{PMID:Zech 2020:33098801}" "" "" "candidate disease gene" "Germline" "" "" "0" "" "" "g.151801443C>T" "" "likely pathogenic (recessive)" "" "0001061824" "3" "70" "1" "151774502" "151774502" "subst" "0.000277635" "00006" "LINGO4_000006" "g.151774502G>T" "" "{PMID:Zech 2020:33098801}" "" "" "candidate disease gene" "Germline" "yes" "" "0" "" "" "g.151802026G>T" "" "likely pathogenic (recessive)" "" "0001061825" "3" "70" "1" "151773508" "151773508" "subst" "0" "00006" "LINGO4_000008" "g.151773508C>T" "" "{PMID:Zech 2020:33098801}" "" "" "candidate disease gene" "Germline" "" "" "0" "" "" "g.151801032C>T" "" "likely pathogenic (recessive)" "" ## 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 LINGO4 ## 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}}" "0000307200" "00011412" "30" "-2407" "0" "-2407" "0" "c.-2407A>G" "r.(?)" "p.(=)" "" "0000307201" "00011412" "30" "-2325" "0" "-2325" "0" "c.-2325C>T" "r.(?)" "p.(=)" "" "0000320985" "00011412" "50" "1726" "0" "1726" "0" "c.1726C>T" "r.(?)" "p.(Arg576Trp)" "" "0000320986" "00011412" "50" "1147" "0" "1147" "0" "c.1147C>G" "r.(?)" "p.(Pro383Ala)" "" "0000990276" "00011412" "50" "863" "0" "863" "0" "c.863T>A" "r.(?)" "p.(Ile288Asn)" "" "0001031258" "00011412" "50" "1070" "0" "1070" "0" "c.1070G>A" "r.(?)" "p.(Gly357Asp)" "" "0001050258" "00011412" "50" "1148" "0" "1148" "0" "c.1148del" "r.(?)" "p.(Pro383Leufs*14)" "" "0001050259" "00011412" "50" "863" "0" "863" "0" "c.863T>A" "r.(?)" "p.(Ile288Asn)" "" "0001061822" "00011412" "70" "679" "0" "679" "0" "c.679C>A" "r.(?)" "p.(Leu227Met)" "" "0001061823" "00011412" "70" "1262" "0" "1262" "0" "c.1262G>A" "r.(?)" "p.(Arg421Gln)" "" "0001061824" "00011412" "70" "679" "0" "679" "0" "c.679C>A" "r.(?)" "p.(Leu227Met)" "" "0001061825" "00011412" "70" "1673" "0" "1673" "0" "c.1673G>A" "r.(?)" "p.(Ser558Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000473053" "0001061822" "0000473053" "0001061823" "0000473054" "0001061824" "0000473055" "0001061825"