### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CPLX1) # 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}}" "CPLX1" "complexin 1" "4" "p16.3" "unknown" "NC_000004.11" "UD_136061103356" "" "https://www.LOVD.nl/CPLX1" "" "1" "2309" "10815" "605032" "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/CPLX1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-07-25 17:23:35" "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}}" "00005600" "CPLX1" "complexin 1" "001" "NM_006651.3" "" "NP_006642.1" "" "" "" "-191" "1949" "405" "819945" "778745" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "01952" "EJM" "epilepsy, myoclonic, juvenile (EJM)" "AD" "254770" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05799" "EIEE63" "encephalopathy, epileptic, early infantile, type 63 (EIEE63)" "AR" "617976" "" "" "" "00006" "2020-07-25 17:23:03" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CPLX1" "00841" "CPLX1" "05799" ## 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}}" "00050680" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00095415" "" "" "" "2" "" "01869" "{PMID:Redler 2017:28422131}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Lebanon" "08y" "0" "" "" "" "FamPat1" "00095416" "" "" "00095415" "1" "" "01869" "{PMID:Redler 2017:28422131}" "sister" "F" "yes" "Lebanon" "" "0" "" "" "" "FamPat2" "00095418" "" "" "" "1" "" "01869" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "M" "yes" "Turkey" "" "0" "" "" "" "Pat3" "00150198" "" "" "" "2" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB6167" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00050680" "00198" "00095415" "01952" "00095416" "01952" "00095418" "01952" "00150198" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00841, 01952, 05799 ## Count = 5 "{{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}}" "0000037292" "00198" "00050680" "00006" "Unknown" "" "intrauterine growth retardation, febrile seizures, feeding difficulties in infancy, microcephaly, global developmental delay, deeply set eye, flat nose, shoulder dimples, skin dimples, macrotia, inverted nipples, pes planus, 2-3 toe syndactyly" "" "" "" "" "" "" "" "" "" "" "" "" "0000073815" "01952" "00095415" "01869" "Familial, autosomal recessive" "" "see paper; ..., intellectual disability, no speech, hypotonia; seizures, 6m-epileptic spasms, 6m-8m-myoclonic seizures >100/day, 36m-generalised seizures; frequent infections, feeding problems, cranofacial anomalies, hypertelorism, bowed eyebrows, flat midface, long philtrum, thin upper lip, full cheeks, no clecft palate, no internal abnormaltities, no bilateral conductive hearing loss, no myopia, no strabismus, no hypothyreosis, brain Unilateral cerebellar cleft" "" "00y06m" "" "" "" "" "" "" "" "" "" "" "0000073816" "01952" "00095416" "01869" "Familial, autosomal recessive" "" "see paper; ..., intellectual disability, no speech, hypotonia; seizures, no epileptic spasms, 2m-6m-myoclonic seizures >150/day, 12m-generalised seizures; nfrequent infections, feeding problems, cranofacial anomalies, hypertelorism, bowed eyebrows, flat midface, thin upper lip, no clecft palate, no internal abnormaltities, no bilateral conductive hearing loss, no myopia, no strabismus, hypothyreosis, no brain abnormalities" "" "" "" "" "" "" "" "" "" "" "" "" "0000073817" "01952" "00095418" "01869" "Familial, autosomal recessive" "" "see paper; ..., intellectual disability, sit-36m, speech nearly absent, hypotonia; seizures, no epileptic spasms, 24m-myoclonic seizures >50/day, 24m-36m generalised seizures; no frequent infections, feeding problems, cranofacial anomalies, marked eyebrows, large nose with bulbous tip, long philtrum, thin upper lip, clecft palate, no internal abnormalities, bilateral conductive hearing loss, myopia, strabismus, no hypothyreosis, no brain abnormalities" "00y01m" "" "" "" "" "" "" "" "" "" "" "" "0000122600" "00198" "00150198" "00006" "Unknown" "" "intellectual diability, cortical atrophy, seizures" "" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000050625" "00050680" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000095814" "00095415" "1" "01869" "01869" "2017-01-16 10:56:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095815" "00095416" "1" "01869" "01869" "2017-01-16 11:05:08" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095816" "00095418" "1" "01869" "01869" "2017-01-16 11:13:19" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000151053" "00150198" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000095814" "CPLX1" "0000095815" "CPLX1" "0000095816" "CPLX1" "0000151053" "CPLX1" ## 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 = 8 "{{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}}" "0000079605" "0" "90" "4" "71552" "3375637" "del" "0" "00006" "IDUA_000000" "g.71552_3375637del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000154421" "3" "70" "4" "780379" "780379" "subst" "0" "01869" "CPLX1_000001" "g.780379G>T" "" "{PMID:Redler 2017:28422131}" "" "" "" "Germline" "yes" "" "0" "" "" "g.786591G>T" "" "likely pathogenic (recessive)" "" "0000154422" "3" "70" "4" "780379" "780379" "subst" "0" "01869" "CPLX1_000001" "g.780379G>T" "" "{PMID:Redler 2017:28422131}" "" "" "" "Germline" "yes" "" "0" "" "" "g.786591G>T" "" "likely pathogenic (recessive)" "" "0000154423" "3" "70" "4" "780312" "780312" "subst" "9.40178E-5" "01869" "CPLX1_000002" "g.780312G>T" "" "{PMID:Redler 2017:28422131}" "" "" "" "Germline" "?" "rs371709824" "0" "" "" "g.786524G>T" "" "pathogenic (recessive)" "" "0000244219" "3" "90" "4" "780372" "780372" "subst" "0" "00006" "CPLX1_000003" "g.780372C>A" "" "{PMID:Karaca 2015:26539891}" "" "NM_006651: c.G322T; p.E108X" "" "Germline" "" "" "0" "" "" "g.786584C>A" "" "pathogenic" "" "0000801710" "0" "30" "4" "786383" "786383" "subst" "0.000152126" "02326" "CPLX1_000004" "g.786383G>A" "" "" "" "CPLX1(NM_006651.4):c.45C>T (p.D15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960177" "0" "50" "4" "780320" "780320" "subst" "0" "03779" "CPLX1_000005" "g.780320G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001034677" "0" "50" "4" "786350" "786350" "subst" "8.16053E-6" "01804" "CPLX1_000006" "g.786350C>G" "" "" "" "CPLX1(NM_006651.4):c.78G>C (p.(Lys26Asn))" "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 CPLX1 ## Count = 8 "{{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}}" "0000079605" "00005600" "00" "-2555883" "0" "709142" "0" "c.-2555883_*708737del" "r.0?" "p.0?" "" "0000154421" "00005600" "70" "315" "0" "315" "0" "c.315C>A" "r.(?)" "p.(Cys105*)" "4" "0000154422" "00005600" "70" "315" "0" "315" "0" "c.315C>A" "r.(?)" "p.(Cys105*)" "4" "0000154423" "00005600" "70" "382" "0" "382" "0" "c.382C>A" "r.(?)" "p.(Leu128Met)" "4" "0000244219" "00005600" "90" "322" "0" "322" "0" "c.322G>T" "r.(?)" "p.(Glu108*)" "" "0000801710" "00005600" "30" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(Asp15=)" "" "0000960177" "00005600" "50" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Pro125Leu)" "" "0001034677" "00005600" "50" "78" "0" "78" "0" "c.78G>C" "r.(?)" "p.(Lys26Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000050625" "0000079605" "0000095814" "0000154421" "0000095815" "0000154422" "0000095816" "0000154423" "0000151053" "0000244219"