### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MGME1) # 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}}" "MGME1" "mitochondrial genome maintenance exonuclease 1" "20" "p11.23" "unknown" "NC_000020.10" "UD_143009566365" "" "https://www.LOVD.nl/MGME1" "" "1" "16205" "92667" "615076" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/MGME1_codingDNA.html" "1" "" "" "-1" "" "-1" "00006" "2015-05-01 00:00:00" "00006" "2023-02-13 17:39:33" "00000" "2024-08-28 13:16:32" ## 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}}" "00024035" "MGME1" "mitochondrial genome maintenance exonuclease 1" "006" "NM_052865.2" "" "NP_443097.1" "" "" "" "-82" "2044" "1035" "17969119" "17991118" "00006" "2015-05-01 20:04:47" "" "" ## 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" "00856" "MTDPS11" "mitochondrial DNA depletion syndrome, type 11 (MTDPS-11)" "AR" "615084" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MGME1" "00856" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00081068" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "no information from parents" "" "" "" "" "0" "" "" "" "" "00292873" "" "" "" "14" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292874" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292875" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296587" "" "" "" "1" "" "00006" "{PMID:Taylor 2014:25058219}" "" "M" "" "United Kingdom (Great Britain)" "2y6m" "0" "" "" "British" "Pat20" "00314364" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00431386" "" "" "" "350" "" "02394" "" "" "F" "likely" "Brazil" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00081068" "00856" "00292873" "00198" "00292874" "00198" "00292875" "00198" "00296587" "00198" "00314364" "05126" "00431386" "00856" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00856, 05126 ## Count = 3 "{{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/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000060637" "00856" "00081068" "01758" "Familial, autosomal recessive" "" "m DNA depletion syndrome 11 (OMIM:615084)" "" "" "" "" "" "" "" "" "" "" "" "0000223993" "00198" "00296587" "00006" "Unknown" "2y6m" "deceased; muscle not affected; central nervous system not affected; heart affected; liver not affected; mtDNA depletion" "2y" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000321982" "00856" "00431386" "02394" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081180" "00081068" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000294041" "00292873" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294042" "00292874" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294043" "00292875" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297697" "00296587" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315537" "00314364" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432799" "00431386" "1" "02394" "02394" "2023-02-10 12:58:50" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000081180" "MGME1" "0000315537" "MGME1" "0000432799" "MGME1" ## 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}}" "0000130266" "3" "70" "20" "17956404" "17956405" "del" "0" "01758" "MGME1_000001" "g.17956404_17956405del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.17975761_17975762del" "" "likely pathogenic" "ACMG" "0000283676" "0" "70" "20" "17968902" "17968902" "del" "0" "02329" "MGME1_000003" "g.17968902del" "" "" "" "MGME1(NM_052865.4):c.825delC (p.Y275*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17988259del" "" "likely pathogenic" "" "0000286576" "0" "10" "20" "17968871" "17968871" "subst" "0.00742182" "02326" "MGME1_000002" "g.17968871C>T" "" "" "" "MGME1(NM_052865.4):c.794C>T (p.T265I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17988228C>T" "" "benign" "" "0000569144" "0" "30" "20" "17956474" "17956474" "subst" "0.000369534" "01943" "MGME1_000004" "g.17956474G>A" "" "" "" "MGME1(NM_001310338.1):c.704G>A (p.R235Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17975831G>A" "" "likely benign" "" "0000650730" "1" "30" "20" "17950588" "17950588" "subst" "0.00212795" "03575" "MGME1_000005" "g.17950588C>G" "14/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "14 heterozygous, no homozygous; {DB:CLININrs143811282}" "Germline" "" "rs143811282" "0" "" "" "g.17969945C>G" "" "likely benign" "" "0000650731" "1" "50" "20" "17956347" "17956347" "subst" "0.00439174" "03575" "MGME1_000006" "g.17956347C>T" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; {DB:CLININrs143417446}" "Germline" "" "rs143417446" "0" "" "" "g.17975704C>T" "" "VUS" "" "0000650732" "1" "50" "20" "17968871" "17968871" "subst" "0.00742182" "03575" "MGME1_000002" "g.17968871C>T" "7/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; {DB:CLININrs76599088}" "Germline" "" "rs76599088" "0" "" "" "g.17988228C>T" "" "VUS" "" "0000660306" "1" "90" "20" "17956347" "17956347" "subst" "0.00439174" "00006" "MGME1_000006" "g.17956347C>T" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.17975704C>T" "" "pathogenic (recessive)" "" "0000660343" "2" "90" "20" "17968871" "17968871" "subst" "0.00742182" "00006" "MGME1_000002" "g.17968871C>T" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.17988228C>T" "" "pathogenic (recessive)" "" "0000697626" "0" "70" "20" "17950909" "17950909" "subst" "0" "00006" "MGME1_000007" "g.17950909T>G" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.17970266T>G" "" "likely pathogenic" "" "0000809171" "0" "50" "20" "17950988" "17950988" "del" "0" "01943" "SNX5_000001" "g.17950988del" "" "" "" "MGME1(NM_001310338.1):c.486delA (p.D163Mfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895232" "0" "50" "20" "17950514" "17950514" "subst" "3.32538E-5" "02325" "SNX5_000002" "g.17950514G>C" "" "" "" "MGME1(NM_052865.4):c.12G>C (p.K4N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915344" "0" "10" "20" "17950545" "17950545" "subst" "0.101934" "02325" "SNX5_000003" "g.17950545A>T" "" "" "" "MGME1(NM_052865.4):c.43A>T (p.S15C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000918411" "3" "70" "20" "17968939" "17968939" "subst" "0" "02394" "MGME1_000008" "g.17968939C>T" "not present in gnomad" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.17988296C>T" "" "pathogenic" "" "0000983743" "0" "30" "20" "17950772" "17950772" "subst" "0.0170916" "01804" "SNX5_000004" "g.17950772A>G" "" "" "" "MGME1(NM_052865.4):c.270A>G (p.(Gln90=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005280" "0" "50" "20" "17956420" "17956420" "subst" "1.62434E-5" "01804" "MGME1_000009" "g.17956420A>C" "" "" "" "MGME1(NM_052865.2):c.605A>C (p.(Lys202Thr))" "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 MGME1 ## 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}}" "0000130266" "00024035" "70" "589" "0" "590" "0" "c.589_590del" "r.(?)" "p.(Asp197*)" "" "0000283676" "00024035" "70" "825" "0" "825" "0" "c.825del" "r.(?)" "p.(Tyr275Ter)" "" "0000286576" "00024035" "10" "794" "0" "794" "0" "c.794C>T" "r.(?)" "p.(Thr265Ile)" "" "0000569144" "00024035" "30" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Arg220Gln)" "" "0000650730" "00024035" "30" "86" "0" "86" "0" "c.86C>G" "r.(?)" "p.(Ser29Cys)" "" "0000650731" "00024035" "50" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Arg178Trp)" "" "0000650732" "00024035" "50" "794" "0" "794" "0" "c.794C>T" "r.(?)" "p.(Thr265Ile)" "" "0000660306" "00024035" "90" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Arg178Trp)" "" "0000660343" "00024035" "90" "794" "0" "794" "0" "c.794C>T" "r.(?)" "p.(Thr265Ile)" "" "0000697626" "00024035" "70" "407" "0" "407" "0" "c.407T>G" "r.(?)" "p.(Val136Gly)" "" "0000809171" "00024035" "50" "486" "0" "486" "0" "c.486del" "r.(?)" "p.(Asp163Metfs*31)" "" "0000895232" "00024035" "50" "12" "0" "12" "0" "c.12G>C" "r.(?)" "p.(Lys4Asn)" "" "0000915344" "00024035" "10" "43" "0" "43" "0" "c.43A>T" "r.(?)" "p.(Ser15Cys)" "" "0000918411" "00024035" "70" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Gln288Ter)" "" "0000983743" "00024035" "30" "270" "0" "270" "0" "c.270A>G" "r.(?)" "p.(=)" "" "0001005280" "00024035" "50" "605" "0" "605" "0" "c.605A>C" "r.(?)" "p.(Lys202Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000081180" "0000130266" "0000294041" "0000650730" "0000294042" "0000650731" "0000294043" "0000650732" "0000297697" "0000660306" "0000297697" "0000660343" "0000315537" "0000697626" "0000432799" "0000918411"