### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TLE6) # 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}}" "TLE6" "transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)" "19" "p13.3" "unknown" "NG_051563.1" "UD_132378723646" "" "https://www.LOVD.nl/TLE6" "" "1" "30788" "79816" "612399" "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/TLE6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-01-26 10:18:39" "00000" "2025-02-07 18:57:27" ## 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}}" "00025965" "TLE6" "transcript variant 1" "002" "NM_001143986.1" "" "NP_001137458.1" "" "" "" "-109" "1899" "1719" "2977536" "2995182" "00006" "2024-12-27 11:41:35" "" "" ## 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}}" "05381" "PREMBL1" "lethality, embryonic, preimplantation, type 1 (PREMBL-1)" "AR" "616814" "" "autosomal recessive" "" "00006" "2018-01-26 10:24:19" "00006" "2021-12-10 21:51:32" "05382" "PREMBL" "lethality, embryonic, preimplantation (PREMBL)" "" "" "" "" "" "00006" "2018-01-26 10:25:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TLE6" "05381" "TLE6" "05382" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00151820" "" "" "" "2" "" "00006" "{PMID:Alazami 2015:26537248}" "2-generation family, 2 affected sisters (2F), unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "26537248" "00151821" "" "" "" "1" "" "00006" "{PMID:Alazami 2015:26537248}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "26537248-Fam2" "00458508" "" "" "" "1" "" "04780" "" "" "F" "" "" "" "" "" "" "" "" "00458509" "" "" "" "1" "" "04780" "" "" "F" "" "" "" "" "" "" "" "" "00458510" "" "" "" "1" "" "04780" "" "" "F" "" "" "" "" "" "" "" "" "00458511" "" "" "" "1" "" "04780" "" "" "F" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00151820" "05382" "00151821" "05382" "00458508" "05382" "00458509" "05382" "00458510" "05382" "00458511" "05382" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05381, 05382 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000124189" "05382" "00151820" "00006" "Familial, autosomal recessive" "" "see paper; ..., presented for treatment of primary infertility" "" "" "" "" "" "" "" "" "0000124190" "05382" "00151821" "00006" "Familial, autosomal recessive" "30y" "see paper; .., presented for treatment of primary infertility" "" "" "" "" "" "" "" "" "0000346946" "05382" "00458508" "04780" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "0000346947" "05382" "00458509" "04780" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "0000346948" "05382" "00458510" "04780" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "0000346949" "05382" "00458511" "04780" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000152677" "00151820" "1" "00006" "00006" "2018-01-26 10:59:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000152678" "00151821" "1" "00006" "00006" "2018-01-26 11:04:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000460130" "00458508" "1" "04780" "04780" "2024-12-15 12:39:57" "" "" "SEQ-NG-I" "DNA" "" "" "0000460131" "00458509" "1" "04780" "04780" "2024-12-15 12:44:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000460132" "00458510" "1" "04780" "04780" "2024-12-15 12:48:53" "" "" "SEQ-NG-I" "DNA" "" "" "0000460133" "00458511" "1" "04780" "04780" "2024-12-15 12:51:41" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000152677" "TLE6" "0000152678" "TLE6" "0000460130" "TLE6" "0000460131" "TLE6" "0000460132" "TLE6" "0000460133" "TLE6" ## 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 = 9 "{{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}}" "0000347633" "0" "50" "19" "2997903" "2997903" "subst" "0" "02327" "TLE2_000002" "g.2997903T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2997905T>G" "" "VUS" "" "0000351506" "3" "90" "19" "2993572" "2993572" "subst" "0" "00006" "TLE6_000001" "g.2993572C>A" "" "{PMID:Alazami 2015:26537248}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2993574C>A" "" "pathogenic (recessive)" "" "0000351507" "3" "90" "19" "2993572" "2993572" "subst" "0" "00006" "TLE6_000001" "g.2993572C>A" "" "{PMID:Alazami 2015:26537248}" "" "" "" "Germline" "" "" "0" "" "" "g.2993574C>A" "" "pathogenic (recessive)" "" "0001019096" "11" "90" "19" "2989659" "2989659" "subst" "8.1355E-6" "04780" "TLE6_000006" "g.2989659C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2989661C>T" "" "pathogenic (recessive)" "ACMG" "0001019097" "21" "90" "19" "2989773" "2989774" "del" "0" "04780" "TLE6_000007" "g.2989773_2989774del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2989775_2989776del" "" "pathogenic (recessive)" "ACMG" "0001019098" "11" "70" "19" "2991926" "2991926" "subst" "8.52847E-5" "04780" "TLE6_000008" "g.2991926C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2991928C>T" "" "VUS" "ACMG" "0001019099" "21" "70" "19" "2994071" "2994071" "subst" "0.000103766" "04780" "TLE6_000009" "g.2994071C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2994073C>T" "" "VUS" "ACMG" "0001019100" "3" "90" "19" "2978269" "2978269" "dup" "0" "04780" "TLE6_000005" "g.2978269dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2978271dup" "" "likely pathogenic (recessive)" "ACMG" "0001019101" "3" "90" "19" "2981581" "2981581" "subst" "0" "04780" "TLE6_000004" "g.2981581G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2981583G>A" "" "likely pathogenic (recessive)" "ACMG" ## 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 TLE6 ## Count = 9 "{{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}}" "0000347633" "00025965" "50" "4620" "0" "4620" "0" "c.*2901T>G" "r.(=)" "p.(=)" "" "0000351506" "00025965" "90" "1529" "0" "1529" "0" "c.1529C>A" "r.(?)" "p.(Ser510Tyr)" "" "0000351507" "00025965" "90" "1529" "0" "1529" "0" "c.1529C>A" "r.(?)" "p.(Ser510Tyr)" "" "0001019096" "00025965" "90" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Gln374*)" "" "0001019097" "00025965" "90" "1234" "0" "1235" "0" "c.1234_1235del" "r.(?)" "p.(Ser412Cysfs*10)" "" "0001019098" "00025965" "70" "1330" "0" "1330" "0" "c.1330C>T" "r.(?)" "p.(Arg444Trp)" "" "0001019099" "00025965" "70" "1592" "0" "1592" "0" "c.1592C>T" "r.(?)" "p.(Pro531Leu)" "" "0001019100" "00025965" "90" "38" "0" "38" "0" "c.38dup" "r.(?)" "p.(Lys14GlufsTer13)" "" "0001019101" "00025965" "90" "180" "0" "180" "0" "c.180G>A" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000152677" "0000351506" "0000152678" "0000351507" "0000460130" "0001019096" "0000460130" "0001019097" "0000460131" "0001019098" "0000460131" "0001019099" "0000460132" "0001019100" "0000460133" "0001019101"