### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LINGO1) # 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}}" "LINGO1" "leucine rich repeat and Ig domain containing 1" "15" "q24" "unknown" "NC_000015.9" "UD_136017768787" "" "https://www.LOVD.nl/LINGO1" "" "1" "21205" "84894" "609791" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/LINGO1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-08-08 14:59:14" "00006" "2024-08-15 18:41:22" ## 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}}" "00011409" "LINGO1" "leucine rich repeat and Ig domain containing 1" "001" "NM_032808.5" "" "NP_116197.4" "" "" "" "-52" "2880" "1863" "77924709" "77905369" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "04147" "MRT" "mental retardation, autosomal recessive (MRT, intellectual disability (IDT))" "" "" "" "autosomal recessive" "" "00006" "2014-10-11 12:21:35" "00006" "2018-12-18 09:25:11" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05642" "MRT64" "mental retardation, autosomal recessive, type 64 (MRT-64)" "AR" "618103" "" "" "autosomal recessive" "00006" "2019-08-08 14:58:51" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "LINGO1" "04147" "LINGO1" "05642" ## 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}}" "00260869" "" "" "" "2" "" "00006" "{PMID:Ansar 2018:28837161}" "4-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives" "F;M" "" "Pakistan" "" "0" "" "" "" "FamF162" "00260870" "" "" "" "3" "" "00006" "{PMID:Ansar 2018:28837161}" "6-generation family, 3 affected (3F), unaffected heterozygous carrier parents/relatives" "F" "yes" "(Netherlands)" "" "0" "" "" "" "FamPKMR65" "00260871" "" "" "" "1" "" "00006" "{PMID:Ansar 2018:28837161}" "" "" "" "" "" "0" "" "" "" "control" "00319924" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Pakistan" "" "0" "" "" "Punjabi" "PKMR65" "00453037" "" "" "" "2" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "4-generation family, affected brother/sister, heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam14" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00260869" "04147" "00260870" "04147" "00260871" "00000" "00319924" "00139" "00453037" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 04147, 05611, 05642 ## Count = 4 "{{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}}" "0000199403" "04147" "00260869" "00006" "Familial, autosomal recessive" "" "see paper; ..., microcephaly, severe intellectual disability, slurred speech, delayed motor milestones, uncontrolled epilepsy (1/2), no muscular abnormality, aggressive" "" "" "" "" "" "" "" "MRT-64" "intellectual disability" "0000199404" "04147" "00260870" "00006" "Familial, autosomal recessive" "" "see paper; ..., microcephaly (2/3), severe (2/3)/moderate (1/3) intellectual disability, absentd speech, delayed motor milestones, no epilepsy, spastic hypertonia (2/3), aggressive" "" "" "" "" "" "" "" "MRT-64" "intellectual disability" "0000242026" "00139" "00319924" "00006" "Familial, autosomal recessive" "" "mild to moderate intellectual disability" "" "" "" "" "" "" "" "" "intellectual disability" "0000341682" "05611" "00453037" "03566" "Familial, autosomal recessive" "" "severe phenotype, severe intellectual disability, motor delay, speech delay, microcephaly, behavioural abnormalities" "" "" "" "" "" "" "" "MRT64" "neurodevelopmental disorder" ## 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}}" "0000261974" "00260869" "1" "00006" "00006" "2019-08-09 11:19:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000261975" "00260870" "1" "00006" "00006" "2019-08-09 11:28:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000261976" "00260871" "1" "00006" "00006" "2019-08-09 11:32:26" "" "" "SEQ" "DNA" "" "" "0000321105" "00319924" "1" "00006" "00006" "2020-11-10 17:13:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000454648" "00453037" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000261974" "LINGO1" "0000261975" "LINGO1" "0000261976" "LINGO1" "0000321105" "DNAJC2" "0000321105" "LINGO1" "0000321105" "VAPA" ## 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 = 10 "{{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}}" "0000555557" "0" "30" "15" "77906963" "77906963" "subst" "0" "01943" "LINGO1_000001" "g.77906963C>T" "" "" "" "LINGO1(NM_001301191.1):c.1268G>A (p.R423H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77614621C>T" "" "likely benign" "" "0000555558" "0" "50" "15" "77908103" "77908103" "subst" "0" "02325" "LINGO1_000002" "g.77908103G>A" "" "" "" "LINGO1(NM_001301191.2):c.128C>T (p.S43F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77615761G>A" "" "VUS" "" "0000592102" "3" "90" "15" "77907380" "77907380" "subst" "0" "00006" "LINGO1_000003" "g.77907380C>T" "" "{PMID:Ansar 2018:28837161}" "" "" "" "Germline" "yes" "" "0" "" "" "g.77615038C>T" "" "pathogenic (recessive)" "" "0000592104" "3" "90" "15" "77907386" "77907386" "subst" "1.21825E-5" "00006" "LINGO1_000004" "g.77907386T>C" "" "{PMID:Ansar 2018:28837161}" "" "" "" "Germline" "yes" "" "0" "" "" "g.77615044T>C" "" "pathogenic (recessive)" "" "0000592105" "0" "90" "15" "77908222" "77908222" "dup" "0" "00006" "LINGO1_000005" "g.77908222dup" "2/402 control chromosomes" "{PMID:Ansar 2018:28837161}" "" "32dupG" "" "Germline" "" "" "0" "" "" "g.77615880dup" "" "VUS" "" "0000703897" "3" "70" "15" "77907386" "77907386" "subst" "1.21825E-5" "00006" "LINGO1_000004" "g.77907386T>C" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.77615044T>C" "" "likely pathogenic" "" "0000725314" "0" "30" "15" "77906581" "77906581" "subst" "0.000101557" "01943" "LINGO1_000006" "g.77906581G>A" "" "" "" "LINGO1(NM_001301191.1):c.1650C>T (p.T550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725315" "0" "30" "15" "77907922" "77907922" "subst" "5.04333E-5" "01943" "LINGO1_000007" "g.77907922G>A" "" "" "" "LINGO1(NM_001301191.1):c.309C>T (p.A103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981429" "0" "30" "15" "77924643" "77924643" "subst" "0.00016694" "01804" "LINGO1_000008" "g.77924643C>T" "" "" "" "LINGO1(NM_032808.7):c.6+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000989537" "3" "90" "15" "77907380" "77907380" "subst" "0" "03566" "LINGO1_000003" "g.77907380C>T" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.77615038C>T" "" "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 LINGO1 ## Count = 10 "{{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}}" "0000555557" "00011409" "30" "1286" "0" "1286" "0" "c.1286G>A" "r.(?)" "p.(Arg429His)" "" "0000555558" "00011409" "50" "146" "0" "146" "0" "c.146C>T" "r.(?)" "p.(Ser49Phe)" "" "0000592102" "00011409" "90" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290His)" "" "0000592104" "00011409" "90" "863" "0" "863" "0" "c.863A>G" "r.(?)" "p.(Tyr288Cys)" "" "0000592105" "00011409" "90" "32" "0" "32" "0" "c.32dup" "r.(?)" "p.(Val12Argfs*167)" "" "0000703897" "00011409" "70" "863" "0" "863" "0" "c.863A>G" "r.(?)" "p.(Tyr288Cys)" "" "0000725314" "00011409" "30" "1668" "0" "1668" "0" "c.1668C>T" "r.(?)" "p.(Thr556=)" "" "0000725315" "00011409" "30" "327" "0" "327" "0" "c.327C>T" "r.(?)" "p.(Ala109=)" "" "0000981429" "00011409" "30" "6" "9" "6" "9" "c.6+9G>A" "r.(=)" "p.(=)" "" "0000989537" "00011409" "90" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000261974" "0000592102" "0000261975" "0000592104" "0000261976" "0000592105" "0000321105" "0000703897" "0000454648" "0000989537"