### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BPGM) # 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}}" "BPGM" "2,3-bisphosphoglycerate mutase" "7" "q33" "unknown" "NG_012921.1" "UD_132118356323" "" "https://www.LOVD.nl/BPGM" "" "1" "1093" "669" "613896" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/BPGM_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-09-04 09:21:31" "00006" "2020-09-04 12:04:30" ## 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}}" "00025454" "BPGM" "transcript variant 2" "001" "NM_199186.2" "" "NP_954655.1" "" "" "" "-541" "1565" "780" "134331531" "134364568" "00008" "2019-07-31 19:07:42" "" "" ## 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" "01754" "ECYT8" "erythrocytosis, familial, type 8 (ECYT8, bisphosphoglycerate mutase deficiency)" "AR" "222800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-09-04 11:38:24" "05576" "ECYT" "erythrocytosis (ECYT)" "" "" "" "" "" "00006" "2019-02-17 20:56:44" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "BPGM" "01754" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00050581" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00249441" "" "" "" "1" "" "00000" "{PMID:Rosa R 1978:152321}" "Congenital Erythrocytosis" "M" "no" "France" "" "0" "" "" "" "" "00249442" "" "" "" "1" "" "00000" "{PMID:Hoyer 2004:15054810}, {PMID:Oliveira 2018:29790589}" "" "M" "yes" "Iran" "" "0" "" "" "Meshadi" "" "00303093" "" "" "" "1" "" "03691" "" "" "M" "?" "" "27y" "0" "" "" "white" "PAR03" "00303110" "" "" "" "1" "" "03691" "" "" "M" "?" "" "" "0" "" "" "" "" "00303330" "" "" "" "2" "" "00006" "{PMID:Petousi 2014:25015942}, {DOI:Petousi 2014:10.3324/haematol.2014.109306}" "2-generation family, affected mother/son" "M" "" "" "" "0" "" "" "white" "patient" "00303331" "" "" "" "1" "" "00006" "{PMID:Camps 2016:27651169}" "" "M" "" "" "" "0" "" "" "" "patient" "00309773" "" "" "" "1" "" "03691" "{PMID:Oliveira 2018:29790589}" "" "?" "?" "" "" "0" "" "" "" "" "00309774" "" "" "" "1" "" "03691" "{PMID:Oliveira 2018:29790589}" "" "?" "?" "" "" "0" "" "" "" "" "00309775" "" "" "" "1" "" "03691" "{PMID:Oliveira 2018:29790589}" "" "?" "?" "" "" "0" "" "" "" "" "00309776" "" "" "" "2" "" "03691" "{PMID:Oliveira 2018:29790589}" "" "?" "?" "" "" "0" "" "" "" "" "00309777" "" "" "" "1" "" "03691" "{PMID:Oliveira 2018:29790589}" "" "?" "?" "" "" "0" "" "" "" "" "00309778" "" "" "" "1" "" "03691" "{PMID:Oliveira 2018:29790589}" "" "?" "?" "" "" "0" "" "" "" "" "00309779" "" "" "" "3" "" "03691" "{PMID:Oliveira 2018:29790589}" "" "?" "?" "" "" "0" "" "" "" "" "00309837" "" "" "" "3" "" "00006" "{PMID:Oliveira 2018:29790589}" "" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00050581" "00198" "00249441" "01754" "00249442" "01754" "00303093" "05576" "00303110" "05576" "00303330" "05576" "00303331" "05576" "00309773" "05576" "00309774" "05576" "00309775" "05576" "00309776" "05576" "00309777" "05576" "00309778" "05576" "00309779" "05576" "00309837" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01754, 05576 ## Count = 14 "{{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}}" "0000037193" "00198" "00050581" "00006" "Isolated (sporadic)" "" "patent ductus arteriosus, midline central nervous system lipomas, global developmental delay, abnormality of the sclera, short philtrum" "" "" "" "" "" "" "" "" "" "" "" "0000188406" "01754" "00249441" "00000" "Familial, autosomal recessive" "" "Bisphosphoglycerate mutase deficiency" "" "42y" "" "" "" "" "" "" "" "" "" "0000188407" "01754" "00249442" "00000" "Familial, autosomal recessive" "" "see paper; ..., asymptomatic/plethora" "" "28y" "" "" "" "" "" "" "ECYT8" "congenital erythrocytosis" "" "0000230177" "05576" "00303093" "03691" "Familial" "27y" "Idiopathic erythrocytosis" "" "" "" "" "" "" "" "" "ECYT8" "Sporadic idipathic erythrocytosis" "" "0000230194" "05576" "00303110" "03691" "Unknown" "" "" "" "52y" "" "" "" "" "" "" "" "Putative secondary erythrocytosis" "" "0000230407" "05576" "00303330" "00006" "Unknown" "27y" "see paper; ..., erythrocytosis" "" "" "" "" "" "" "" "" "" "erythrocytosis" "" "0000230408" "05576" "00303331" "00006" "Unknown" "52y" "see paper; ..., Hb 186 g/L; Hct 52.5%; Epo normal range; myocardial infarction; no family history" "" "" "" "" "" "" "" "" "" "erythrocytosis" "" "0000235083" "05576" "00309773" "03691" "Unknown" "" "Syncope, headache, fatigue" "" "" "" "" "" "" "" "" "" "" "" "0000235084" "05576" "00309774" "03691" "Unknown" "" "Asymptomatic, thrombocytopenia" "" "" "" "" "" "" "" "" "" "" "" "0000235085" "05576" "00309775" "03691" "Unknown" "" "Asymptomatic" "" "" "" "" "" "" "" "" "" "" "" "0000235086" "05576" "00309776" "03691" "Unknown" "" "Asymptomatic" "" "" "" "" "" "" "" "" "" "" "" "0000235087" "05576" "00309777" "03691" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000235088" "05576" "00309778" "03691" "Unknown" "" "Symptomatic, not otherwise specified" "" "" "" "" "" "" "" "" "" "" "" "0000235151" "00198" "00309837" "00006" "Unknown" "" "fatigue, splenomegaly, family history" "" "" "" "" "" "" "" "" "" "erythrocytosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050526" "00050581" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000250548" "00249441" "1" "00000" "01678" "2012-09-05 13:59:21" "" "" "SEQ" "DNA" "" "" "0000250549" "00249442" "1" "00000" "01678" "2012-09-05 13:38:12" "" "" "SEQ" "DNA" "" "" "0000304234" "00303093" "1" "03691" "03691" "2020-06-06 19:15:46" "" "" "SEQ;SEQ-NG-IT" "DNA" "Blood" "" "0000304235" "00303110" "1" "03691" "03691" "2020-06-06 21:16:51" "" "" "SEQ;SEQ-NG-IT" "DNA" "Blood" "" "0000304456" "00303330" "1" "00006" "00006" "2020-06-10 13:39:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000304457" "00303331" "1" "00006" "00006" "2020-06-10 14:23:41" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000310918" "00309773" "1" "03691" "03691" "2020-09-03 11:16:49" "" "" "SEQ" "DNA;protein" "" "" "0000310919" "00309774" "1" "03691" "03691" "2020-09-03 11:41:23" "" "" "SEQ" "DNA" "" "" "0000310920" "00309775" "1" "03691" "03691" "2020-09-03 12:02:50" "" "" "SEQ" "DNA" "" "" "0000310921" "00309776" "1" "03691" "03691" "2020-09-03 12:12:36" "" "" "SEQ" "DNA" "" "" "0000310922" "00309777" "1" "03691" "03691" "2020-09-03 12:20:43" "" "" "SEQ" "DNA" "" "" "0000310923" "00309778" "1" "03691" "03691" "2020-09-03 12:28:24" "" "" "SEQ" "DNA" "" "" "0000310924" "00309779" "1" "03691" "03691" "2020-09-03 12:32:45" "" "" "SEQ" "DNA" "" "" "0000310982" "00309837" "1" "00006" "00006" "2020-09-04 11:58:46" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000250548" "BPGM" "0000250549" "BPGM" "0000304234" "BPGM" "0000304235" "BPGM" "0000304456" "BPGM" "0000304457" "BPGM" "0000310918" "BPGM" "0000310919" "BPGM" "0000310920" "BPGM" "0000310921" "BPGM" "0000310922" "BPGM" "0000310923" "BPGM" "0000310924" "BPGM" ## 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}}" "0000079506" "0" "90" "7" "121000064" "135573959" "del" "0" "00006" "IMPDH1_000003" "g.121000064_135573959del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000579853" "0" "99" "7" "134346320" "134346320" "del" "0" "00000" "BPGM_000003" "g.134346320del" "" "{PMID:Lemarchandel 1992:1421379}" "" "" "BPGM Créteil II" "Germline" "" "" "0" "" "" "g.134661568del" "" "pathogenic (recessive)" "" "0000579854" "0" "99" "7" "134346527" "134346527" "subst" "8.13756E-6" "00000" "BPGM_000002" "g.134346527C>T" "" "{PMID:Rosa R 1989:2542247}" "" "" "BPGM Créteil I" "Germline" "" "" "0" "" "" "g.134661775C>T" "" "pathogenic (recessive)" "" "0000579855" "3" "99" "7" "134346444" "134346444" "subst" "4.06507E-6" "00000" "BPGM_000001" "g.134346444G>A" "1/157 individuals" "{PMID:Hoyer 2004:15054810}, {PMID:Oliveira 2018:29790589}" "" "" "Bisphosphoglycerate mutase deficiency" "Germline" "" "" "0" "" "" "g.134661692G>A" "" "pathogenic (recessive)" "" "0000667662" "21" "90" "7" "134346528" "134346528" "subst" "4.06888E-6" "03691" "BPGM_000004" "g.134346528G>A" "" "" "" "" "" "Germline" "" "rs781222092" "0" "" "" "g.134661776G>A" "" "pathogenic (dominant)" "" "0000667663" "0" "70" "7" "134346563" "134346563" "subst" "0" "03691" "BPGM_000005" "g.134346563C>A" "" "" "" "" "Patient is a heterozygote, but it is not known whether for paternal or maternal allele" "Germline/De novo (untested)" "?" "" "0" "" "" "g.134661811C>A" "" "pathogenic (dominant)" "" "0000667898" "21" "90" "7" "134346528" "134346528" "subst" "4.06888E-6" "00006" "BPGM_000004" "g.134346528G>A" "" "{PMID:Petousi 2014:25015942}, {DOI:Petousi 2014:10.3324/haematol.2014.109306}" "" "G269A" "" "Germline" "" "" "0" "" "" "g.134661776G>A" "" "pathogenic (dominant)" "" "0000667899" "0" "90" "7" "134346563" "134346563" "subst" "0" "00006" "BPGM_000005" "g.134346563C>A" "" "{PMID:Camps 2016:27651169}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.134661811C>A" "" "pathogenic (dominant)" "" "0000686062" "0" "70" "7" "134346443" "134346443" "subst" "4.0653E-6" "03691" "BPGM_000007" "g.134346443C>T" "" "{PMID:Oliveira 2018:29790589}" "" "" "no variant 2nd chromosome" "Germline/De novo (untested)" "" "rs1436218818" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000686063" "3" "70" "7" "134346603" "134346603" "subst" "0" "03691" "BPGM_000008" "g.134346603G>A" "" "{PMID:Oliveira 2018:29790589}" "" "" "" "Germline" "" "rs149329328" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000686064" "1" "70" "7" "134346765" "134346765" "subst" "0" "03691" "BPGM_000009" "g.134346765G>A" "" "{PMID:Oliveira 2018:29790589}" "" "" "no variant 2nd chromosome" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000686065" "1" "50" "7" "134346386" "134346386" "subst" "0" "03691" "BPGM_000006" "g.134346386A>C" "" "{PMID:Oliveira 2018:29790589}" "" "" "no variant 2nd chromosome" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000686066" "1" "50" "7" "134331663" "134331674" "del" "0" "03691" "BPGM_000010" "g.134331663_134331674del" "" "{PMID:Oliveira 2018:29790589}" "" "-409_-398del" "no variant 2nd chromosome" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000686067" "1" "50" "7" "134331669" "134331669" "subst" "0" "03691" "BPGM_000012" "g.134331669C>T" "" "{PMID:Oliveira 2018:29790589}" "" "" "no variant 2nd chromosome" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000686068" "1" "50" "7" "134343065" "134343065" "subst" "0" "03691" "BPGM_000011" "g.134343065G>C" "" "{PMID:Oliveira 2018:29790589}" "" "" "no variant 2nd chromosome; family history" "Germline" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000686130" "1" "50" "7" "134343065" "134343065" "subst" "0" "00006" "BPGM_000011" "g.134343065G>C" "" "{PMID:Oliveira 2018:29790589}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "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 BPGM ## 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}}" "0000079506" "00025454" "90" "-8388608" "0" "1210956" "0" "c.-13332008_*1210176del" "r.0?" "p.0?" "" "0000579853" "00025454" "99" "61" "0" "61" "0" "c.61del" "r.(?)" "p.(Arg21Valfs*28)" "?" "0000579854" "00025454" "99" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90Cys)" "?" "0000579855" "00025454" "99" "185" "0" "185" "0" "c.185G>A" "r.(?)" "p.(Arg62Gln)" "3" "0000667662" "00025454" "90" "269" "0" "269" "0" "c.269G>A" "r.(?)" "p.(Arg90His)" "" "0000667663" "00025454" "70" "304" "0" "304" "0" "c.304C>A" "r.(?)" "p.(Gln102Lys)" "" "0000667898" "00025454" "90" "269" "0" "269" "0" "c.269G>A" "r.(?)" "p.(Arg90His)" "" "0000667899" "00025454" "90" "304" "0" "304" "0" "c.304C>A" "r.(?)" "p.(Gln102Lys)" "" "0000686062" "00025454" "70" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Arg62Trp)" "" "0000686063" "00025454" "70" "344" "0" "344" "0" "c.344G>A" "r.(?)" "p.(Trp115*)" "" "0000686064" "00025454" "70" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Trp169*)" "" "0000686065" "00025454" "50" "127" "0" "127" "0" "c.127A>C" "r.(?)" "p.(Lys43Gln)" "" "0000686066" "00025454" "50" "-409" "0" "-398" "0" "c.-409_-398del" "r.?" "p.(?)" "" "0000686067" "00025454" "50" "-403" "0" "-403" "0" "c.-403C>T" "r.(?)" "p.(=)" "" "0000686068" "00025454" "50" "-382" "-35" "-382" "-35" "c.-382-35G>C" "r.(?)" "p.(=)" "" "0000686130" "00025454" "50" "-382" "-35" "-382" "-35" "c.-382-35G>C" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000050526" "0000079506" "0000250548" "0000579853" "0000250548" "0000579854" "0000250549" "0000579855" "0000304234" "0000667662" "0000304235" "0000667663" "0000304456" "0000667898" "0000304457" "0000667899" "0000310918" "0000686062" "0000310919" "0000686063" "0000310920" "0000686064" "0000310921" "0000686065" "0000310922" "0000686066" "0000310923" "0000686067" "0000310924" "0000686068" "0000310982" "0000686130"