### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MEI1) # 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}}" "MEI1" "meiosis inhibitor 1" "22" "q13.2" "unknown" "NC_000022.10" "UD_134753493465" "" "https://www.LOVD.nl/MEI1" "" "1" "28613" "150365" "608797" "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/MEI1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2018-09-29 23:28:36" "00000" "2024-10-29 21:08:56" ## 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}}" "00001162" "MEI1" "meiosis inhibitor 1" "001" "NM_152513.3" "" "NP_689726.3" "" "" "" "-25" "3981" "3825" "42095518" "42195459" "00000" "2012-09-13 13:15:36" "" "" ## 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}}" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05472" "HYDM" "mole, hydatidiform, recurrent (HYDM)" "" "" "" "" "" "00006" "2018-09-29 23:17:06" "" "" "05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" "" "06545" "HYDM3" "Hydatidiform mole, recurrent, 3" "AR" "618431" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MEI1" "06545" ## 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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00181110" "" "" "" "2" "" "02576" "{PMID:Nguyen 2018:30388401}, {DOI:Nguyen 2018:10.1016/j.ajhg.2018.10.007}" "3-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "" "(Canada)" "" "0" "" "" "Hispanic" "30388401-1333" "00181111" "" "" "" "2" "" "02576" "{PMID:Nguyen 2018:30388401}, {DOI:Nguyen 2018:10.1016/j.ajhg.2018.10.007}" "3-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives" "F;M" "" "(Canada)" "" "0" "" "" "French Canadian" "30388401-880" "00225505" "" "" "" "3" "" "00006" "{PMID:Ben Khelifa 2018:29659827}" "4-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "Tunisia" "" "0" "" "" "" "29659827-Fam" "00314837" "" "" "" "1" "" "00006" "{PMID:Nakamura 2017:28718531}" "" "" "" "Japan" "" "0" "" "" "" "Pat3" "00314838" "" "" "" "1" "" "00006" "{PMID:Nakamura 2017:28718531}" "" "" "" "Japan" "" "0" "" "" "" "Pat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00181110" "05472" "00181111" "05472" "00225505" "05562" "00314837" "00201" "00314838" "00201" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00201, 01157, 05472, 05562, 06545 ## Count = 6 "{{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}}" "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" "" "" "" "" "" "" "" "0000143359" "05472" "00181110" "02576" "Familial, autosomal recessive" "" "diagnosed with recurrent hydatidiform mole" "" "" "" "" "" "" "" "" "" "0000143360" "05472" "00181111" "02576" "Familial, autosomal recessive" "" "diagnosed with recurrent hydatidiform mole" "" "" "" "" "" "" "" "" "" "0000170619" "05562" "00225505" "00006" "Familial, autosomal recessive" "" "non-obstructive azoospermia, meiotic arrest." "" "" "" "" "" "" "" "" "azoospermia" "0000238595" "00201" "00314837" "00006" "Unknown" "" "see paper; idiopathic non-obstructive azoospermia, ..." "" "" "" "" "" "" "" "" "non-obstructive azoospermia" "0000238596" "00201" "00314838" "00006" "Unknown" "" "see paper; idiopathic non-obstructive azoospermia, ..." "" "" "" "" "" "" "" "" "non-obstructive azoospermia" ## 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}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000182067" "00181110" "1" "02576" "02576" "2018-09-28 18:27:36" "02576" "2018-09-28 20:44:15" "RT-PCR;SEQ-NG" "DNA;RNA" "" "WES (whole exome sequencing" "0000182068" "00181111" "1" "02576" "02576" "2018-09-28 20:37:42" "" "" "RT-PCR;SEQ-NG" "DNA;RNA" "" "Targeted Gene Sequencing" "0000226584" "00225505" "1" "00006" "00006" "2019-02-17 16:43:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000316010" "00314837" "1" "00006" "00006" "2020-10-19 12:03:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316011" "00314838" "1" "00006" "00006" "2020-10-19 12:03:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000182067" "MEI1" "0000182068" "MEI1" "0000226584" "MEI1" "0000316010" "MEI1" "0000316010" "TEX11" "0000316011" "MEI1" "0000316011" "SPATA17" ## 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 = 13 "{{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}}" "0000014045" "3" "50" "22" "42143572" "42143572" "subst" "0" "00037" "MEI1_000001" "g.42143572A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.41747568A>G" "" "VUS" "" "0000329059" "0" "50" "22" "42190477" "42190477" "subst" "0.000117786" "01804" "MEI1_000002" "g.42190477C>T" "" "" "" "MEI1(NM_152513.3):c.3530C>T (p.(Thr1177Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41794473C>T" "" "VUS" "" "0000329060" "0" "50" "22" "42195260" "42195260" "subst" "0.000113762" "01804" "MEI1_000003" "g.42195260G>T" "" "" "" "MEI1(NM_152513.3):c.3782G>T (p.(Cys1261Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41799256G>T" "" "VUS" "" "0000405888" "3" "90" "22" "42190399" "42190399" "subst" "1.62442E-5" "02576" "MEI1_000004" "g.42190399G>A" "" "{PMID:Nguyen 2018:30388401}, {DOI:Nguyen 2018:10.1016/j.ajhg.2018.10.007}" "" "" "" "Germline" "yes" "rs749779829" "0" "" "" "g.41794395G>A" "" "pathogenic (recessive)" "" "0000405889" "21" "90" "22" "42128349" "42128349" "subst" "0" "02576" "MEI1_000005" "g.42128349G>A" "" "{PMID:Nguyen 2018:30388401}, {DOI:Nguyen 2018:10.1016/j.ajhg.2018.10.007}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41732345G>A" "" "pathogenic (recessive)" "" "0000405890" "11" "90" "22" "42159263" "42159263" "del" "0" "02576" "MEI1_000006" "g.42159263del" "" "{PMID:Nguyen 2018:30388401}, {DOI:Nguyen 2018:10.1016/j.ajhg.2018.10.007}" "" "" "" "Germline" "yes" "rs759915989" "0" "" "" "g.41763259del" "" "pathogenic (recessive)" "" "0000458924" "3" "90" "22" "42180749" "42180749" "subst" "4.12555E-6" "00006" "MEI1_000007" "g.42180749C>T" "" "{PMID:Ben Khelifa 2018:29659827}" "" "C3307T" "" "Germline" "yes" "" "0" "" "" "g.41784745C>T" "" "pathogenic (recessive)" "" "0000698134" "0" "50" "22" "42128499" "42128499" "subst" "5.69277E-5" "00006" "MEI1_000013" "g.42128499C>G" "" "{PMID:Nakamura 2017:28718531}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41732495C>G" "" "VUS" "" "0000698135" "0" "50" "22" "42119945" "42119945" "subst" "9.34929E-6" "00006" "MEI1_000012" "g.42119945A>C" "" "{PMID:Nakamura 2017:28718531}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41723941A>C" "" "VUS" "" "0000931303" "0" "70" "22" "42172232" "42172232" "subst" "4.06299E-6" "02327" "MEI1_000014" "g.42172232C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000951622" "0" "50" "22" "42172128" "42172128" "subst" "0" "02325" "MEI1_000015" "g.42172128T>A" "" "" "" "MEI1(NM_152513.4):c.2567T>A (p.V856E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951623" "0" "50" "22" "42180353" "42180353" "subst" "0.000105628" "02327" "MEI1_000016" "g.42180353C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015956" "0" "50" "22" "42125754" "42125754" "subst" "9.16292E-5" "02327" "MEI1_000017" "g.42125754C>T" "" "" "" "" "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 MEI1 ## Count = 13 "{{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}}" "0000014045" "00001162" "50" "1681" "-539" "1681" "-539" "c.1681-539A>G" "r.(=)" "p.(=)" "" "0000329059" "00001162" "50" "3530" "0" "3530" "0" "c.3530C>T" "r.(?)" "p.(Thr1177Ile)" "" "0000329060" "00001162" "50" "3782" "0" "3782" "0" "c.3782G>T" "r.(?)" "p.(Cys1261Phe)" "" "0000405888" "00001162" "90" "3452" "0" "3452" "0" "c.3452G>A" "r.[3453g>a,3428_3535del]" "p.[Trp1151*,?]" "" "0000405889" "00001162" "90" "1196" "1" "1196" "1" "c.1196+1G>A" "r.1096_1196del" "p.?" "" "0000405890" "00001162" "90" "2206" "0" "2206" "0" "c.2206del" "r.(?)" "p.(Val736Serfs*31)" "" "0000458924" "00001162" "90" "3307" "0" "3307" "0" "c.3307C>T" "r.(?)" "p.(Arg1103Trp)" "" "0000698134" "00001162" "50" "1223" "0" "1223" "0" "c.1223C>G" "r.(?)" "p.(Thr408Arg)" "" "0000698135" "00001162" "50" "734" "-2" "734" "-2" "c.734-2A>C" "r.spl" "p.?" "" "0000931303" "00001162" "70" "2671" "0" "2671" "0" "c.2671C>T" "r.(?)" "p.(Gln891*)" "" "0000951622" "00001162" "50" "2567" "0" "2567" "0" "c.2567T>A" "r.(?)" "p.(Val856Glu)" "" "0000951623" "00001162" "50" "3098" "0" "3098" "0" "c.3098C>T" "r.(?)" "p.(Thr1033Ile)" "" "0001015956" "00001162" "50" "950" "0" "950" "0" "c.950C>T" "r.(?)" "p.(Ala317Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000000210" "0000014045" "0000182067" "0000405888" "0000182068" "0000405889" "0000182068" "0000405890" "0000226584" "0000458924" "0000316010" "0000698134" "0000316011" "0000698135"