### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = KCNE1L)
# 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}}"
"KCNE1L" "KCNE1-like" "X" "q22.3" "unknown" "NC_000023.10" "UD_132118735497" "" "http://www.LOVD.nl/KCNE5" "" "1" "6241" "23630" "300328" "1" "1" "1" "1" "NOTE: gene symbol was recently changed from KCNE1L to KCNE5\r\nEstablishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/KCNE1L_codingDNA.html" "1" "" "NOTE: gene symbol was recently changed from KCNE1L to KCNE5" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2019-07-28 14:52:32" "00000" "2021-09-17 14:40:49"
## 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}}"
"00000661" "KCNE1L" "KCNE1-like" "001" "NM_012282.2" "" "NP_036414.1" "" "" "" "-144" "1321" "429" "108866929" "108868393" "00000" "2012-09-13 12:44:55" "" ""
## 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}}"
"00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" ""
"00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21"
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-10-24 17:14:32"
"05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## 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}}"
"00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00103749" "" "" "" "1" "" "01602" "{PMID:Neubauer 2018:29350269}, {DOI:Neubauer 2018:10.1007/s00414-018-1775-y}" "" "F" "" "Switzerland" "05y" "0" "" "" "African" ""
"00172683" "" "" "" "17" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00308781" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}" "{{diseaseid}}"
"00000208" "01157"
"00000209" "01157"
"00103749" "05166"
"00172683" "00187"
"00308781" "00000"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00187, 01157, 05166
## Count = 4
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}"
"0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" ""
"0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" ""
"0000081685" "05166" "00103749" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" ""
"0000137547" "00187" "00172683" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX"
## 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}}"
"0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" ""
"0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000104204" "00103749" "1" "01602" "01602" "2017-04-18 12:00:18" "" "" "SEQ-NG-I" "DNA" "" ""
"0000173566" "00172683" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" ""
"0000309926" "00308781" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{geneid}}"
"0000173566" "PNMA3"
"0000309926" "KCNE1L"
## 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 = 16
"{{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}}"
"0000007436" "20" "50" "X" "108867177" "108867177" "subst" "0" "00037" "KCNE1L_000002" "g.108867177G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.109623948G>A" "" "VUS" ""
"0000009562" "20" "50" "X" "108867177" "108867177" "subst" "0" "00037" "KCNE1L_000002" "g.108867177G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.109623948G>A" "" "VUS" ""
"0000168861" "0" "50" "X" "108868066" "108868066" "subst" "0" "01602" "KCNE1L_000003" "g.108868066A>T" "" "{PMID:Neubauer 2018:29350269}, {DOI:Neubauer 2018:10.1007/s00414-018-1775-y}" "" "" "" "Unknown" "" "" "0" "" "" "g.109624837A>T" "" "VUS" ""
"0000278291" "0" "50" "X" "108868141" "108868141" "subst" "0" "02330" "KCNE1L_000006" "g.108868141T>C" "" "" "" "KCNE5(NM_012282.3):c.109A>G (p.M37V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109624912T>C" "" "VUS" ""
"0000278292" "0" "70" "X" "108867892" "108867892" "subst" "0.0000204578" "02330" "KCNE1L_000004" "g.108867892G>A" "" "" "" "KCNE5(NM_012282.3):c.358C>T (p.Q120*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109624663G>A" "" "likely pathogenic" ""
"0000278298" "0" "10" "X" "108868153" "108868153" "subst" "0.109834" "02330" "KCNE1L_000007" "g.108868153G>A" "" "" "" "KCNE5(NM_012282.3):c.97C>T (p.P33S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109624924G>A" "" "benign" ""
"0000290049" "0" "30" "X" "108867904" "108867904" "subst" "0.0000565009" "01943" "KCNE1L_000005" "g.108867904C>T" "" "" "" "KCNE5(NM_012282.3):c.346G>A (p.A116T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109624675C>T" "" "likely benign" ""
"0000393425" "1" "50" "X" "108868153" "108868153" "subst" "0.109834" "00124" "KCNE1L_000007" "g.108868153G>A" "17/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 17 times" "Germline" "" "" "0" "" "" "g.109624924G>A" "" "VUS" ""
"0000572973" "0" "50" "X" "108868195" "108868195" "subst" "0.000191936" "02330" "KCNE1L_000009" "g.108868195C>A" "" "" "" "KCNE5(NM_012282.3):c.55G>T (p.E19*), KCNE5(NM_012282.4):c.55G>T (p.E19*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109624966C>A" "" "VUS" ""
"0000618876" "0" "50" "X" "108867892" "108867892" "subst" "0.0000204578" "02327" "KCNE1L_000004" "g.108867892G>A" "" "" "" "KCNE5(NM_012282.3):c.358C>T (p.Q120*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109624663G>A" "" "VUS" ""
"0000618877" "0" "50" "X" "108867956" "108867956" "del" "0" "02330" "KCNE1L_000010" "g.108867956del" "" "" "" "KCNE5(NM_012282.3):c.294delC (p.C98Wfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109624727del" "" "VUS" ""
"0000618878" "0" "10" "X" "108868163" "108868163" "subst" "0.00228392" "02327" "KCNE1L_000011" "g.108868163C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109624934C>A" "" "benign" ""
"0000618879" "0" "50" "X" "108868171" "108868171" "subst" "0" "02330" "KCNE1L_000012" "g.108868171T>C" "" "" "" "KCNE5(NM_012282.3):c.79A>G (p.S27G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109624942T>C" "" "VUS" ""
"0000618880" "0" "50" "X" "108868195" "108868195" "subst" "0.000191936" "02325" "KCNE1L_000009" "g.108868195C>A" "" "" "" "KCNE5(NM_012282.3):c.55G>T (p.E19*), KCNE5(NM_012282.4):c.55G>T (p.E19*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109624966C>A" "" "VUS" ""
"0000618881" "0" "50" "X" "108868218" "108868218" "subst" "0.00000641281" "02330" "KCNE1L_000013" "g.108868218G>A" "" "" "" "KCNE5(NM_012282.3):c.32C>T (p.T11I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109624989G>A" "" "VUS" ""
"0000684828" "0" "10" "X" "108868009" "108868009" "subst" "0.000567843" "00004" "KCNE1L_000014" "g.108868009A>G" "frequency 0.013" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.109624780A>G" "" "benign" ""
## 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 KCNE1L
## Count = 16
"{{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}}"
"0000007436" "00000661" "50" "1073" "0" "1073" "0" "c.*644C>T" "r.(=)" "p.(=)" "1"
"0000009562" "00000661" "50" "1073" "0" "1073" "0" "c.*644C>T" "r.(=)" "p.(=)" "1"
"0000168861" "00000661" "50" "184" "0" "184" "0" "c.184T>A" "r.(?)" "p.(Tyr62Asn)" "1"
"0000278291" "00000661" "50" "109" "0" "109" "0" "c.109A>G" "r.(?)" "p.(Met37Val)" ""
"0000278292" "00000661" "70" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Gln120Ter)" ""
"0000278298" "00000661" "10" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Pro33Ser)" ""
"0000290049" "00000661" "30" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Ala116Thr)" ""
"0000393425" "00000661" "50" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Pro33Ser)" ""
"0000572973" "00000661" "50" "55" "0" "55" "0" "c.55G>T" "r.(?)" "p.(Glu19Ter)" ""
"0000618876" "00000661" "50" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Gln120Ter)" ""
"0000618877" "00000661" "50" "294" "0" "294" "0" "c.294del" "r.(?)" "p.(Cys98TrpfsTer12)" ""
"0000618878" "00000661" "10" "87" "0" "87" "0" "c.87G>T" "r.(?)" "p.(Leu29Phe)" ""
"0000618879" "00000661" "50" "79" "0" "79" "0" "c.79A>G" "r.(?)" "p.(Ser27Gly)" ""
"0000618880" "00000661" "50" "55" "0" "55" "0" "c.55G>T" "r.(?)" "p.(Glu19Ter)" ""
"0000618881" "00000661" "50" "32" "0" "32" "0" "c.32C>T" "r.(?)" "p.(Thr11Ile)" ""
"0000684828" "00000661" "10" "241" "0" "241" "0" "c.241T>C" "r.(?)" "p.(Tyr81His)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}" "{{variantid}}"
"0000000209" "0000007436"
"0000000210" "0000009562"
"0000104204" "0000168861"
"0000173566" "0000393425"
"0000309926" "0000684828"