### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = BVES)
# 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}}"
"BVES" "blood vessel epicardial substance" "6" "q21" "unknown" "NG_046732.1" "UD_132465802805" "" "https://www.LOVD.nl/POPDC1" "" "1" "1152" "11149" "604577" "1" "1" "1" "1" "NOTE: gene name changed from BVES to POPDC1\r\nAlias BVES.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/BVES_codingDNA.html" "1" "" "NOTE: gene name changed from BVES to POPDC1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-01-10 16:55:25" "00000" "2022-11-01 13:01:21"
## 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}}"
"00024254" "BVES" "transcript variant C" "001" "NM_001199563.1" "" "NP_001186492.1" "" "" "" "-217" "5350" "1083" "105585049" "105544697" "00006" "2017-05-05 19:13:14" "" ""
## 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}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" ""
"05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" ""
"05266" "LGMDR25;LGMD2X" "dystrophy, muscular, limb-girdle, autosomal recessive, type 25 (LGMD2X)" "AR" "616812" "" "" "" "00006" "2017-05-05 19:14:54" "00006" "2024-01-12 21:09:35"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"BVES" "05266"
## 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}}"
"00104044" "" "" "" "3" "" "00006" "{PMID:Schindler 2016:26642364}, {DOI:Schindler 2016:10.1172/JCI79562}" "3-generation family, 3 affecteds (3M), unaffected heterozygous carrier parents/sibs" "M" "" "Italy" "" "0" "" "" "Albania" "26642364_Fam"
"00305556" "" "" "" "1" "" "00006" "{PMID:de Ridder 2019: 31119192}" "2-generation family, affected sister/brother, unaffected heterozygous carrier mother" "F" "yes" "" "" "0" "" "" "North Africa" "Fam1Pat1"
"00305557" "" "" "" "1" "" "00006" "{PMID:de Ridder 2019: 31119192}" "sister" "M" "yes" "" "" "0" "" "" "North Africa" "Fam1Pat2"
"00305558" "" "" "" "1" "" "00006" "{PMID:de Ridder 2019: 31119192}" "2-generation family, 1 affected, unaffected heterozygous carrier relatives" "F" "" "Belgium" "" "0" "" "" "white" "Fam2Pat3"
"00305559" "" "" "" "1" "" "00006" "{PMID:de Ridder 2019: 31119192}" "2-generation family, 1 affected, unaffected heterozygous carrier relatives" "M" "yes" "Belgium" "" "0" "" "" "white" "Fam3Pat4"
"00314065" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" ""
"00415306" "" "" "" "1" "" "03566" "" "" "" "yes" "(Pakistan)" "" "" "" "" "" "POPDC1"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 7
"{{individualid}}" "{{diseaseid}}"
"00104044" "05266"
"00305556" "05121"
"00305557" "05121"
"00305558" "05121"
"00305559" "05121"
"00314065" "05126"
"00415306" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 05121, 05126, 05266
## Count = 6
"{{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}}"
"0000081986" "05266" "00104044" "00006" "Familial, autosomal recessive" "" "cardiac arrhythmia, limb-girdle muscular dystrophy" "" "" "" "" "" "" "" "" "" "" ""
"0000231403" "05121" "00305556" "00006" "Familial, autosomal recessive" "41y" "exercise intolerance, no muscle weakness (proximal upper limbs, proximal lower limbs, distal upper limbs, distal lower limbs); 41y-ambulatory; elevated serum CK (1300-3661 IU/L); 28y-EMG normal; resting ECG first degree AV block, ECG normal; Holter monitoring first degree AV block" "27y" "" "exercise intolerance" "" "" "" "" "" "LGMD2X" "muscular dystrophy" ""
"0000231404" "05121" "00305557" "00006" "Familial, autosomal recessive" "37y" "palpitations, faintness, weakness right calf muscle (no weakness proximal upper limbs, proximal lower limbs, distal upper limbs, distal lower limbs); 37y-ambulatory; elevated serum CK (1074-5500 IU/L); 30y-EMG myopathic; resting ECG first degree AV block, ECG normal; Holter monitoring second-degree AV block (Mobitz type 2), incomplete right bundle branch block; bicycle ergometer Mobitz type 2 second-degree AV block during recovery; 21y-muscle biopsy myopathic (left deltoid)" "19y" "" "palpitations, faintness, elevated CK" "" "" "" "" "" "LGMD2X" "muscular dystrophy" ""
"0000231405" "05121" "00305558" "00006" "Familial, autosomal recessive" "65y" "muscle weakness periscapular, proximal upper limbs, proximal lower limbs, distal upper limbs, distal lower limbs; 65y-wheel chair; elevated serum CK (1918 IU/L); 45y-EMG myopathic; resting ECG normal, ECG aortic valve stenosis; Holter monitoring nocturnal first-degree AV block; bicycle arm ergometer no increase heart rate during the test, borderline first-degree AV block; 45y-muscle biopsy myopathic (quadriceps)" "35y" "" "proximal weakness lower limbs" "" "" "" "" "" "LGMD2X" "muscular dystrophy" ""
"0000231406" "05121" "00305559" "00006" "Familial, autosomal recessive" "44y" "myalgia, no muscle weakness (proximal upper limbs, proximal lower limbs, distal upper limbs, distal lower limbs); 44y-ambulatory; elevated serum CK (3500-4000 IU/L); 43y-EMG myopathic; resting ECG normal, ECG normal; Holter monitoring octurnal second-degree AV block (Mobitz type 2); 43y-muscle biopsy myopathic (quadriceps)" "39y" "" "myalgia, high CK" "" "" "" "" "" "LGMD2X" "muscular dystrophy" ""
"0000307103" "00198" "00415306" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "LGMD" ""
## 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}}"
"0000104515" "00104044" "1" "00006" "00006" "2017-05-05 19:20:53" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000306685" "00305556" "1" "00006" "00006" "2020-06-29 18:22:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000306686" "00305557" "1" "00006" "00006" "2020-06-29 18:22:20" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES"
"0000306687" "00305558" "1" "00006" "00006" "2020-06-29 18:22:20" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES"
"0000306688" "00305559" "1" "00006" "00006" "2020-06-29 18:22:20" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES"
"0000315238" "00314065" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000416587" "00415306" "1" "03566" "03566" "2022-08-11 11:00:50" "" "" "SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}" "{{geneid}}"
"0000104515" "BVES"
"0000306685" "BVES"
"0000306686" "BVES"
"0000306687" "BVES"
"0000306688" "BVES"
"0000315238" "BVES"
## 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}}"
"0000169456" "3" "90" "6" "105572468" "105572468" "subst" "0" "00006" "BVES_000001" "g.105572468G>A" "" "{PMID:Schindler 2016:26642364}, {DOI:Schindler 2016:10.1172/JCI79562}, {OMIM604577:0001}" "" "" "IHC skeletal muscle biopsies showed significant reduction membrane localization, diminished plasma membrane labeling and increased perinuclear localization of both POPDC1/POPDC2, WB shows normal total protein levels" "Germline" "yes" "rs869025337" "0" "" "" "g.105124593G>A" "" "pathogenic" ""
"0000670377" "3" "90" "6" "105564574" "105564574" "subst" "0" "00006" "BVES_000002" "g.105564574A>G" "" "{PMID:de Ridder 2019: 31119192}" "" "" "" "Germline" "" "" "0" "" "" "g.105116699A>G" "" "pathogenic (dominant)" ""
"0000670378" "3" "90" "6" "105564574" "105564574" "subst" "0" "00006" "BVES_000002" "g.105564574A>G" "" "{PMID:de Ridder 2019: 31119192}" "" "" "" "Germline" "" "" "0" "" "" "g.105116699A>G" "" "pathogenic (dominant)" ""
"0000670379" "3" "90" "6" "105577343" "105577343" "subst" "0" "00006" "BVES_000003" "g.105577343G>A" "" "{PMID:de Ridder 2019: 31119192}" "" "" "markedly descreased mRNA levels" "Germline" "" "" "0" "" "" "g.105129468G>A" "" "pathogenic (dominant)" ""
"0000670380" "3" "90" "6" "105581452" "105581452" "subst" "4.66022E-6" "00006" "BVES_000004" "g.105581452T>C" "" "{PMID:de Ridder 2019: 31119192}" "" "" "normal mRNA lelves" "Germline" "" "" "0" "" "" "g.105133577T>C" "" "pathogenic (dominant)" ""
"0000697327" "0" "70" "6" "105577343" "105577343" "subst" "0" "00006" "BVES_000003" "g.105577343G>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.105129468G>A" "" "likely pathogenic" ""
"0000860054" "0" "30" "6" "105563677" "105563677" "subst" "0.0108078" "01804" "BVES_000005" "g.105563677A>G" "" "" "" "BVES(NM_001199563.1):c.842T>C (p.(Leu281Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000874730" "0" "90" "6" "105573404" "105573404" "subst" "0" "03566" "BVES_000006" "g.105573404G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.105125529G>A" "" "pathogenic" "ACMG"
"0000886969" "0" "30" "6" "105573424" "105573424" "subst" "0.0031015" "01804" "BVES_000007" "g.105573424C>T" "" "" "" "BVES(NM_001199563.1):c.381G>A (p.(Met127Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 BVES
## 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}}"
"0000169456" "00024254" "90" "602" "0" "602" "0" "c.602C>T" "r.(?)" "p.(Ser201Phe)" "5"
"0000670377" "00024254" "90" "816" "2" "816" "2" "c.816+2T>C" "r.(649_816del)" "p.(Val217_Lys272del)" ""
"0000670378" "00024254" "90" "816" "2" "816" "2" "c.816+2T>C" "r.649_816del" "p.Val217_Lys272del" ""
"0000670379" "00024254" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88*)" ""
"0000670380" "00024254" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" ""
"0000697327" "00024254" "70" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88*)" ""
"0000860054" "00024254" "30" "842" "0" "842" "0" "c.842T>C" "r.(?)" "p.(Leu281Pro)" ""
"0000874730" "00024254" "90" "401" "0" "401" "0" "c.401C>T" "r.(?)" "p.(Pro134Leu)" ""
"0000886969" "00024254" "30" "381" "0" "381" "0" "c.381G>A" "r.(?)" "p.(Met127Ile)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}" "{{variantid}}"
"0000104515" "0000169456"
"0000306685" "0000670377"
"0000306686" "0000670378"
"0000306687" "0000670379"
"0000306688" "0000670380"
"0000315238" "0000697327"
"0000416587" "0000874730"