### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MPZL2) # 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}}" "MPZL2" "myelin protein zero-like 2" "11" "q24" "unknown" "NC_000011.9" "UD_136089265273" "" "https://www.LOVD.nl/MPZL2" "" "1" "3496" "10205" "604873" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-10-23 16:04:59" "00000" "2023-01-11 15:44:22" ## 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}}" "00013817" "MPZL2" "transcript variant 1" "001" "NM_005797.3" "" "NP_005788.1" "" "" "" "-383" "2478" "648" "118135251" "118124131" "" "0000-00-00 00:00:00" "" "" ## 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}}" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "06126" "DFNB111" "Deafness, autosomal recessive 111" "AR" "618145" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MPZL2" "05086" "MPZL2" "06126" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00183338" "" "" "" "2" "" "00006" "{PMID:Bademci 2018:29982980}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "yes" "Turkey" "" "0" "" "" "" "29982980-Fam1" "00183339" "" "" "" "2" "" "00006" "{PMID:Bademci 2018:29982980}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "yes" "Turkey" "" "0" "" "" "" "29982980-Fam2" "00183340" "" "" "" "4" "" "00006" "{PMID:Bademci 2018:29982980}" "2-generation family, 4 affected (3F, M), unaffected heterozygous carrier father" "F;M" "yes" "Iran" "" "0" "" "" "" "29982980-Fam3" "00275933" "" "" "" "1" "" "03557" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "" "" "Korea" "" "0" "" "" "" "SB134-227" "00295948" "" "" "" "1" "" "03607" "" "" "F" "?" "Korea, South (Republic)" "17y" "" "" "" "Asian" "SB271-534" "00295950" "" "" "" "1" "" "03607" "" "" "M" "?" "Korea, South (Republic)" "17y" "" "" "" "Asian" "SB240-467" "00295951" "" "" "" "1" "" "03607" "" "" "F" "?" "Korea, South (Republic)" "15y" "" "" "" "Asian" "SB321-631" "00295952" "" "" "" "1" "" "03607" "" "" "M" "?" "Korea, South (Republic)" "55y" "" "" "" "Asian" "SB349-682" "00295956" "" "" "" "1" "" "03607" "" "" "M" "?" "Korea, South (Republic)" "08y" "0" "" "" "Asian" "SB134-227" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00183338" "05086" "00183339" "05086" "00183340" "05086" "00275933" "05103" "00295948" "05103" "00295950" "05103" "00295951" "05103" "00295952" "05103" "00295956" "05103" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05086, 05103, 06126 ## Count = 9 "{{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}}" "0000144075" "05086" "00183338" "00006" "Familial, autosomal recessive" "" "see paper; ..., autosomal recessive nonsyndromic moderate hearing loss" "" "" "" "" "" "" "" "" "hearing loss" "0000144076" "05086" "00183339" "00006" "Familial, autosomal recessive" "" "see paper; ..., autosomal recessive nonsyndromic moderate hearing loss" "" "" "" "" "" "" "" "" "hearing loss" "0000144077" "05086" "00183340" "00006" "Familial, autosomal recessive" "" "see paper; ..., autosomal recessive nonsyndromic moderate hearing loss" "" "" "" "" "" "" "" "" "hearing loss" "0000210533" "05103" "00275933" "03557" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000223424" "05103" "00295948" "03607" "Familial, autosomal recessive" "" "Postlingual moderate hearing loss" "" "" "" "" "" "" "" "" "" "0000223426" "05103" "00295950" "03607" "Familial, autosomal recessive" "" "Moderate degree hearing loss" "" "" "" "" "" "" "" "" "" "0000223427" "05103" "00295951" "03607" "Familial, autosomal recessive" "" "Multiplex, mild to moderate hearing loss" "" "" "" "" "" "" "" "" "" "0000223428" "05103" "00295952" "03607" "Familial, autosomal recessive" "" "Moderate to severe degree hearing loss" "" "" "" "" "" "" "" "" "" "0000223432" "05103" "00295956" "03607" "Familial, autosomal recessive" "" "Mild to moderate hearing loss" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000184299" "00183338" "1" "00006" "00006" "2018-10-23 15:43:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000184300" "00183339" "1" "00006" "00006" "2018-10-23 15:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000184301" "00183340" "1" "00006" "00006" "2018-10-23 15:49:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000277086" "00275933" "1" "03557" "03557" "2020-01-21 08:56:01" "" "" "SEQ-NG-I" "DNA" "" "" "0000297120" "00295948" "1" "03607" "03607" "2020-03-30 13:42:44" "" "" "SEQ-NG-I" "DNA" "whole blood" "WES" "0000297122" "00295950" "1" "03607" "03607" "2020-03-30 13:49:08" "" "" "SEQ-NG-I" "DNA" "whole blood" "WES" "0000297123" "00295951" "1" "03607" "03607" "2020-03-30 13:51:38" "" "" "SEQ-NG-I" "DNA" "whole blood" "WES" "0000297124" "00295952" "1" "03607" "03607" "2020-03-30 13:53:39" "" "" "SEQ-NG-I" "DNA" "whole blood" "WES" "0000297128" "00295956" "1" "03607" "03607" "2020-03-30 14:12:03" "" "" "SEQ-NG-I" "DNA" "whole blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000184299" "MPZL2" "0000184300" "MPZL2" "0000184301" "MPZL2" "0000277086" "MPZL2" "0000297120" "MPZL2" "0000297122" "MPZL2" "0000297123" "MPZL2" "0000297124" "MPZL2" "0000297128" "MPZL2" ## 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 = 20 "{{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}}" "0000408319" "3" "90" "11" "118133799" "118133799" "del" "0.000822107" "00006" "MPZL2_000001" "g.118133799del" "" "{PMID:Bademci 2018:29982980}" "" "72delA" "" "Germline" "yes" "" "0" "" "" "g.118263084del" "" "pathogenic (recessive)" "" "0000408320" "3" "90" "11" "118133799" "118133799" "del" "0.000822107" "00006" "MPZL2_000001" "g.118133799del" "" "{PMID:Bademci 2018:29982980}" "" "72delA" "" "Germline" "yes" "" "0" "" "" "g.118263084del" "" "pathogenic (recessive)" "" "0000408321" "3" "90" "11" "118133799" "118133799" "del" "0.000822107" "00006" "MPZL2_000001" "g.118133799del" "" "{PMID:Bademci 2018:29982980}" "" "72delA" "" "Germline" "yes" "" "0" "" "" "g.118263084del" "" "pathogenic (recessive)" "" "0000542544" "0" "90" "11" "118130809" "118130809" "subst" "0.000154424" "01943" "MPZL2_000002" "g.118130809G>A" "" "" "" "MPZL2(NM_005797.4):c.544C>T (p.R182*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118260094G>A" "" "pathogenic" "" "0000542545" "0" "30" "11" "118133173" "118133173" "subst" "0.00144895" "01943" "MPZL2_000003" "g.118133173C>T" "" "" "" "MPZL2(NM_005797.4):c.416G>A (p.R139Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118262458C>T" "" "likely benign" "" "0000542546" "0" "90" "11" "118133799" "118133799" "del" "0.000822107" "01943" "MPZL2_000001" "g.118133799del" "" "" "" "MPZL2(NM_005797.4):c.72delA (p.I24Mfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118263084del" "" "pathogenic" "" "0000542547" "0" "90" "11" "118133799" "118133799" "del" "0.000822107" "02327" "MPZL2_000001" "g.118133799del" "" "" "" "MPZL2(NM_005797.4):c.72delA (p.I24Mfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118263084del" "" "pathogenic" "" "0000631817" "1" "50" "11" "118130891" "118130891" "del" "0" "03557" "MPZL2_000004" "g.118130891del" "" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "463delG" "ACMG PVS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.118260176del" "" "pathogenic (recessive)" "ACMG" "0000659736" "3" "70" "11" "118133651" "118133651" "subst" "0.000386849" "03607" "MPZL2_000005" "g.118133651G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.118262936G>A" "" "pathogenic (recessive)" "" "0000659738" "3" "90" "11" "118133651" "118133651" "subst" "0.000386849" "03607" "MPZL2_000005" "g.118133651G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.118262936G>A" "" "pathogenic (recessive)" "" "0000659739" "0" "90" "11" "118133651" "118133651" "subst" "0.000386849" "03607" "MPZL2_000005" "g.118133651G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.118262936G>A" "" "pathogenic (recessive)" "" "0000659740" "3" "90" "11" "118133651" "118133651" "subst" "0.000386849" "03607" "MPZL2_000005" "g.118133651G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.118262936G>A" "" "pathogenic (recessive)" "" "0000659745" "1" "90" "11" "118130891" "118130891" "del" "0" "03607" "MPZL2_000004" "g.118130891del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.118260176del" "" "pathogenic" "" "0000667177" "2" "90" "11" "118133651" "118133651" "subst" "0.000386849" "00006" "MPZL2_000005" "g.118133651G>A" "" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "" "ACMG PVS1_S, PM3_S, PP1" "Germline" "" "" "0" "" "" "g.118262936G>A" "" "pathogenic (recessive)" "ACMG" "0000723232" "0" "50" "11" "118133311" "118133311" "subst" "0.00226162" "01943" "MPZL2_000007" "g.118133311T>A" "" "" "" "MPZL2(NM_005797.4):c.278A>T (p.D93V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804902" "0" "50" "11" "118133741" "118133741" "subst" "0.000524032" "01943" "MPZL2_000008" "g.118133741G>A" "" "" "" "MPZL2(NM_005797.4):c.130C>T (p.R44W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000815723" "0" "50" "11" "118133309" "118133309" "subst" "0.00010982" "03779" "MPZL2_000009" "g.118133309G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs145401372" "0" "" "" "" "" "VUS" "" "0000889638" "0" "50" "11" "118133308" "118133308" "subst" "0.000191158" "02327" "MPZL2_000010" "g.118133308C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889639" "0" "50" "11" "118133309" "118133309" "subst" "0.00010982" "02327" "MPZL2_000009" "g.118133309G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913505" "0" "50" "11" "118133220" "118133220" "subst" "0" "02327" "MPZL2_000011" "g.118133220G>C" "" "" "" "" "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 MPZL2 ## Count = 20 "{{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}}" "0000408319" "00013817" "90" "72" "0" "72" "0" "c.72del" "r.(?)" "p.(Ile24Metfs*22)" "" "0000408320" "00013817" "90" "72" "0" "72" "0" "c.72del" "r.(?)" "p.(Ile24Metfs*22)" "" "0000408321" "00013817" "90" "72" "0" "72" "0" "c.72del" "r.(?)" "p.(Ile24Metfs*22)" "" "0000542544" "00013817" "90" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(Arg182Ter)" "" "0000542545" "00013817" "30" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Arg139Gln)" "" "0000542546" "00013817" "90" "72" "0" "72" "0" "c.72del" "r.(?)" "p.(Ile24MetfsTer22)" "" "0000542547" "00013817" "90" "72" "0" "72" "0" "c.72del" "r.(?)" "p.(Ile24MetfsTer22)" "" "0000631817" "00013817" "70" "463" "0" "463" "0" "c.463del" "r.(?)" "p.(Ala155Leufs*10)" "" "0000659736" "00013817" "70" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Gln74*)" "" "0000659738" "00013817" "90" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Gln74*)" "" "0000659739" "00013817" "90" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Gln74*)" "" "0000659740" "00013817" "90" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Gln74*)" "" "0000659745" "00013817" "90" "463" "0" "463" "0" "c.463del" "r.(?)" "p.(Ala155Leufs*10)" "" "0000667177" "00013817" "90" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Gln74*)" "" "0000723232" "00013817" "50" "278" "0" "278" "0" "c.278A>T" "r.(?)" "p.(Asp93Val)" "" "0000804902" "00013817" "50" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44Trp)" "" "0000815723" "00013817" "50" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94Trp)" "" "0000889638" "00013817" "50" "281" "0" "281" "0" "c.281G>T" "r.(?)" "p.(Arg94Leu)" "" "0000889639" "00013817" "50" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94Trp)" "" "0000913505" "00013817" "50" "369" "0" "369" "0" "c.369C>G" "r.(?)" "p.(Cys123Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000184299" "0000408319" "0000184300" "0000408320" "0000184301" "0000408321" "0000277086" "0000631817" "0000277086" "0000667177" "0000297120" "0000659736" "0000297122" "0000659738" "0000297123" "0000659739" "0000297124" "0000659740" "0000297128" "0000659745"