### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CELSR3) # 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}}" "CELSR3" "cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila)" "3" "p21.31" "unknown" "NG_034061.1" "UD_132464475575" "" "https://www.LOVD.nl/CELSR3" "" "1" "3230" "1951" "604264" "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/CELSR3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-03-01 13:28:18" "00000" "2025-05-05 21:14:00" ## 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}}" "00004953" "CELSR3" "cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila)" "001" "NM_001407.2" "" "NP_001398.2" "" "" "" "-281" "11681" "9939" "48700348" "48673896" "" "0000-00-00 00:00:00" "" "" ## 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" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "05476" "SEMDSP" "dysplasia, spondyloepimetaphyseal, SPONASTRIME type (SEMDSP)" "AR" "271510" "" "autosomal recesive" "" "00006" "2018-10-20 03:14:40" "00006" "2020-05-19 10:37:38" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CELSR3" "00841" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00225452" "" "" "" "1" "" "00006" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Brazil" "" "0" "" "" "African black;non-Latin European" "-Pat4" "00314896" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "M" "" "United States" "" "0" "" "" "" "Trio82" "00334916" "" "" "" "3" "" "00006" "{PMID:Edvardson 2013:23339110}" "3-generation family, 3 affcted (F, 2M)" "F;M" "yes" "Palestine" "" "0" "" "" "Arab" "FamPat3110/3111/10177" "00334921" "" "" "" "1" "" "00006" "{PMID:Pippucci 2013:24358150}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Italy" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00225452" "05476" "00314896" "00198" "00334916" "00841" "00334921" "00841" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00841, 05476 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000170567" "05476" "00225452" "00006" "Familial, autosomal recessive" "2y2m" "see paper; …" "" "" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "" "0000238654" "00198" "00314896" "00006" "Unknown" "8y" "Hyperflexability, developmental delay, family history of mental illness." "<8m" "" "" "" "" "" "" "" "" "" "" "" "0000252689" "00841" "00334916" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "0000252691" "00841" "00334921" "00006" "Familial, autosomal recessive" "09y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000226531" "00225452" "1" "00006" "00006" "2019-02-16 14:29:08" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000316070" "00314896" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000336146" "00334916" "1" "00006" "00006" "2021-03-02 13:18:53" "00006" "2021-03-02 13:22:27" "SEQ;SEQ-NG" "DNA" "" "WES" "0000336151" "00334921" "1" "00006" "00006" "2021-03-02 13:28:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000226531" "TONSL" "0000316070" "CELSR3" ## 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 = 23 "{{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}}" "0000339163" "0" "50" "3" "48698386" "48698387" "del" "0" "02327" "CELSR3_000005" "g.48698386_48698387del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48660953_48660954del" "" "VUS" "" "0000342555" "0" "50" "3" "48679322" "48679322" "subst" "0" "02327" "CELSR3_000003" "g.48679322C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48641889C>A" "" "VUS" "" "0000345335" "0" "50" "3" "48679401" "48679401" "subst" "0" "02327" "CELSR3_000004" "g.48679401C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48641968C>A" "" "VUS" "" "0000347791" "0" "10" "3" "48682550" "48682550" "subst" "0.00399524" "02327" "CELSR3_000001" "g.48682550C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48645117C>T" "" "benign" "" "0000458836" "11" "50" "3" "48677114" "48677114" "subst" "0.00441142" "00006" "CELSR3_000006" "g.48677114C>G" "" "{DOI:Reynhout 2019:10.1016/j.ajhg.2019.01.009}" "" "" "" "Germline" "" "" "0" "" "" "g.48639681C>G" "" "VUS" "" "0000458837" "21" "50" "3" "48697654" "48697654" "subst" "0.0997124" "00006" "CELSR3_000007" "g.48697654C>G" "" "{DOI:Reynhout 2019:10.1016/j.ajhg.2019.01.009}" "" "" "" "Germline" "" "" "0" "" "" "g.48660221C>G" "" "VUS" "" "0000520144" "0" "30" "3" "48682579" "48682579" "subst" "2.87614E-5" "01943" "CELSR3_000010" "g.48682579A>G" "" "" "" "CELSR3(NM_001407.2):c.7861T>C (p.F2621L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48645146A>G" "" "likely benign" "" "0000520145" "0" "30" "3" "48682945" "48682945" "subst" "0.000126669" "01943" "CELSR3_000011" "g.48682945G>T" "" "" "" "CELSR3(NM_001407.2):c.7728C>A (p.A2576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48645512G>T" "" "likely benign" "" "0000689103" "0" "30" "3" "48679816" "48679816" "subst" "4.896E-5" "01943" "CELSR3_000012" "g.48679816G>A" "" "" "" "CELSR3(NM_001407.2):c.8640C>T (p.D2880=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000698196" "0" "70" "3" "48690434" "48690434" "subst" "0" "00006" "CELSR3_000013" "g.48690434C>A" "" "{PMID:Zhu 2015:25590979}" "" "" "" "De novo" "" "" "0" "" "" "g.48653001C>A" "" "VUS" "" "0000735232" "3" "50" "3" "48682550" "48682550" "subst" "0.00399524" "00006" "CELSR3_000001" "g.48682550C>T" "" "{PMID:Edvardson 2013:23339110}" "" "" "" "Germline" "yes" "rs149614835" "0" "" "" "" "" "VUS" "" "0000735247" "3" "50" "3" "48687978" "48687978" "subst" "2.14223E-5" "00006" "CELSR3_000014" "g.48687978C>T" "" "{PMID:Pippucci 2013:24358150}" "" "341G>A (G114D)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000801282" "0" "30" "3" "48694336" "48694336" "subst" "0" "01943" "CELSR3_000015" "g.48694336C>T" "" "" "" "CELSR3(NM_001407.2):c.4194G>A (p.S1398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801283" "0" "50" "3" "48696417" "48696417" "subst" "4.06147E-6" "01943" "CELSR3_000016" "g.48696417C>A" "" "" "" "CELSR3(NM_001407.2):c.3651G>T (p.Q1217H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859071" "0" "50" "3" "48682235" "48682235" "subst" "4.07455E-6" "01943" "CELSR3_000017" "g.48682235C>T" "" "" "" "CELSR3(NM_001407.2):c.7999G>A (p.G2667S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859072" "0" "30" "3" "48698541" "48698541" "subst" "4.15372E-6" "01943" "CELSR3_000018" "g.48698541A>G" "" "" "" "CELSR3(NM_001407.2):c.1527T>C (p.Y509=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993763" "0" "50" "3" "48683674" "48683674" "subst" "0.00112609" "01804" "CELSR3_000019" "g.48683674C>T" "" "" "" "CELSR3(NM_001407.2):c.7312G>A (p.(Val2438Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993764" "0" "50" "3" "48683677" "48683677" "subst" "4.09836E-6" "01804" "CELSR3_000020" "g.48683677G>C" "" "" "" "CELSR3(NM_001407.2):c.7309C>G (p.(Pro2437Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993765" "0" "30" "3" "48684307" "48684307" "subst" "1.88016E-5" "01804" "CELSR3_000021" "g.48684307G>T" "" "" "" "CELSR3(NM_001407.2):c.7184C>A (p.(Pro2395Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993766" "0" "30" "3" "48690599" "48690599" "subst" "0.000635055" "01804" "CELSR3_000022" "g.48690599C>T" "" "" "" "CELSR3(NM_001407.2):c.5470G>A (p.(Val1824Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034024" "0" "30" "3" "48669724" "48669724" "subst" "0.000510283" "01804" "CELSR3_000023" "g.48669724C>T" "" "" "" "SLC26A6(NM_022911.3):c.539G>A (p.(Arg180Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034025" "0" "50" "3" "48683218" "48683218" "subst" "0.000351238" "01804" "CELSR3_000024" "g.48683218C>T" "" "" "" "CELSR3(NM_001407.3):c.7547G>A (p.(Arg2516Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034026" "0" "50" "3" "48698677" "48698677" "subst" "0.000110265" "01804" "CELSR3_000025" "g.48698677G>T" "" "" "" "CELSR3(NM_001407.3):c.1391C>A (p.(Pro464His))" "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 CELSR3 ## Count = 23 "{{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}}" "0000339163" "00004953" "50" "1685" "0" "1686" "0" "c.1685_1686del" "r.(?)" "p.(Thr562SerfsTer9)" "" "0000342555" "00004953" "50" "8786" "0" "8786" "0" "c.8786G>T" "r.(?)" "p.(Arg2929Leu)" "" "0000345335" "00004953" "50" "8707" "0" "8707" "0" "c.8707G>T" "r.(?)" "p.(Glu2903Ter)" "" "0000347791" "00004953" "10" "7890" "0" "7890" "0" "c.7890G>A" "r.(?)" "p.(Met2630Ile)" "" "0000458836" "00004953" "00" "9904" "0" "9904" "0" "c.9904G>C" "r.(?)" "p.(Asp3302His)" "" "0000458837" "00004953" "50" "2414" "0" "2414" "0" "c.2414G>C" "r.(?)" "p.(Ser805Thr)" "" "0000520144" "00004953" "30" "7861" "0" "7861" "0" "c.7861T>C" "r.(?)" "p.(Phe2621Leu)" "" "0000520145" "00004953" "30" "7728" "0" "7728" "0" "c.7728C>A" "r.(?)" "p.(Ala2576=)" "" "0000689103" "00004953" "30" "8640" "0" "8640" "0" "c.8640C>T" "r.(?)" "p.(Asp2880=)" "" "0000698196" "00004953" "70" "5634" "1" "5634" "1" "c.5634+1G>T" "r.spl" "p.?" "" "0000735232" "00004953" "50" "7890" "0" "7890" "0" "c.7890G>A" "r.(?)" "p.(Met2630Ile)" "" "0000735247" "00004953" "50" "6407" "0" "6407" "0" "c.6407G>A" "r.(?)" "p.(Gly2136Asp)" "" "0000801282" "00004953" "30" "4194" "0" "4194" "0" "c.4194G>A" "r.(?)" "p.(Ser1398=)" "" "0000801283" "00004953" "50" "3651" "0" "3651" "0" "c.3651G>T" "r.(?)" "p.(Gln1217His)" "" "0000859071" "00004953" "50" "7999" "0" "7999" "0" "c.7999G>A" "r.(?)" "p.(Gly2667Ser)" "" "0000859072" "00004953" "30" "1527" "0" "1527" "0" "c.1527T>C" "r.(?)" "p.(Tyr509=)" "" "0000993763" "00004953" "50" "7312" "0" "7312" "0" "c.7312G>A" "r.(?)" "p.(Val2438Ile)" "" "0000993764" "00004953" "50" "7309" "0" "7309" "0" "c.7309C>G" "r.(?)" "p.(Pro2437Ala)" "" "0000993765" "00004953" "30" "7184" "0" "7184" "0" "c.7184C>A" "r.(?)" "p.(Pro2395Gln)" "" "0000993766" "00004953" "30" "5470" "0" "5470" "0" "c.5470G>A" "r.(?)" "p.(Val1824Met)" "" "0001034024" "00004953" "30" "15853" "0" "15853" "0" "c.*5914G>A" "r.(=)" "p.(=)" "" "0001034025" "00004953" "50" "7547" "0" "7547" "0" "c.7547G>A" "r.(?)" "p.(Arg2516Gln)" "" "0001034026" "00004953" "50" "1391" "0" "1391" "0" "c.1391C>A" "r.(?)" "p.(Pro464His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000226531" "0000458836" "0000226531" "0000458837" "0000316070" "0000698196" "0000336146" "0000735232" "0000336151" "0000735247"