### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DPM3) # 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}}" "DPM3" "dolichyl-phosphate mannosyltransferase polypeptide 3" "1" "q22" "unknown" "NG_012871.1" "UD_132118553035" "" "https://www.LOVD.nl/DPM3" "Leiden Muscular Dystrophy pages \r\nCongenital Disorder of Glycosylation pages " "1" "3007" "54344" "605951" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/DPM3_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
\r\n\"EuroglycanetCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site." "-1" "" "-1" "00001" "2009-10-11 00:00:00" "00006" "2020-10-10 19:55:25" "00000" "2023-07-07 10:10:56" ## 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}}" "00025556" "DPM3" "transcript variant 1" "002" "NM_018973.3" "" "NP_061846.2" "" "" "" "-77" "440" "369" "155112883" "155112367" "00006" "2020-10-10 19:30:30" "" "" ## 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}}" "03212" "MDDGC15;CDG1O" "dystrophy, muscular, dystroglycanopathy (limb-girdle), type C15 (MDDGC15, CDG1O)" "AR" "612937" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-10-10 19:58:56" "05117" "MDDG" "dystrophy, muscular, dystroglycanopathy (MDDG)" "" "" "" "" "" "00006" "2016-01-11 01:55:59" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05852" "MDDGB15" "dystrophy, muscular, dystroglycanopathy (congenital with impaired intellectual development), type B15 (MDDGB15)" "AR" "618992" "" "" "" "00006" "2020-10-10 20:00:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DPM3" "03212" "DPM3" "05852" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00151379" "" "" "" "1" "" "00006" "{PMID:Lefeber 2009:19576565}" "" "F" "no" "Greece" "" "0" "" "" "" "" "00155313" "" "" "" "1" "" "02410" "" "" "M" "-" "" "" "0" "" "" "" "" "00311099" "" "" "" "1" "" "00006" "{PMID:Johnson 2018:30060766}" "" "F" "" "" "" "0" "" "" "white" "Pat1" "00314008" "" "" "" "1" "" "00006" "{PMID:Van Den Bergh 2017:28803818}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00390625" "" "" "" "1" "" "00006" "{PMID:Song 2021:33200426}" "" "M" "" "China" "" "0" "" "" "" "Pat142" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00151379" "03212" "00155313" "03212" "00311099" "05117" "00314008" "05126" "00390625" "05117" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03212, 05117, 05126, 05852 ## Count = 5 "{{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}}" "0000123773" "03212" "00151379" "00006" "Isolated (sporadic)" "" "mild muscle weakness, cardiomyopathy; IQ low normal; CPK 1500-3000" "" "" "" "" "" "" "" "" "" "0000127813" "03212" "00155313" "02410" "Familial" "" "" "" "" "" "" "" "" "" "" "" "0000236355" "05117" "00311099" "00006" "Familial, autosomal recessive" "58y" "onset middle age, progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity normal; muscle weakness proximal upper limb and lower limb, distal lower limb, axial; proximal lower limb atrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 4310 U/L; muscle biopsy myopathic, dystrophic; involvement of gluteus maximus, adductor magnus, obturatorius externeus, hamstring, adductor, rectus femoris, tibialis anterior and gastrocnemius externus muscles; EMG myopathic" "" "" "" "α-DG deficiency" "" "" "" "" "dystroglycanopathy" "0000238307" "05126" "00314008" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "MDDGC15" "limb-girdle muscular dystrophy" "0000284162" "05117" "00390625" "00006" "Familial, autosomal dominant" "5y" "congenital muscular dystrophy, no mental retardation; 2y-walk, 5y-run; no contractures; no intellectual disability; no seizures; no eye involvement; CK level 2113 IU/L; MRI brain left ventricle enlargement; EMG myogenic; muscle biopsy muscular dystrophy" "6m" "" "" "" "" "" "" "" "congenital muscular dystrophy, no mental retardation" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000152234" "00151379" "1" "00006" "00006" "2010-04-16 20:05:12" "00006" "2012-03-09 18:55:42" "SEQ" "DNA" "" "" "0000156178" "00155313" "1" "02410" "02410" "2018-03-23 14:00:38" "" "" "SEQ-NG" "DNA" "" "" "0000312251" "00311099" "1" "00006" "00006" "2020-09-18 13:35:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315181" "00314008" "1" "00006" "00006" "2020-10-10 19:24:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000391866" "00390625" "1" "00006" "00006" "2021-11-10 16:44:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000152234" "DPM3" "0000156178" "DPM3" "0000312251" "DPM3" "0000315181" "DPM3" ## 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 = 12 "{{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}}" "0000245353" "3" "90" "1" "155112463" "155112463" "subst" "4.0832E-6" "00006" "DPM3_000001" "g.155112463A>G" "" "{PMID:Lefeber 2009:19576565}, {OMIM605951:0001}" "" "" "not in 240 control chromosomes" "Germline" "" "" "0" "" "" "g.155139987A>G" "" "pathogenic" "" "0000245354" "0" "90" "1" "155112463" "155112463" "subst" "4.0832E-6" "00006" "DPM3_000001" "g.155112463A>G" "" "{PMID:Lefeber 2009:19576565}" "" "" "expression cloning CHO-cells no DPM3 enzyme activity, reduced DPM1 binding capacity" "In vitro (cloned)" "" "" "0" "" "" "g.155139987A>G" "" "NA" "" "0000245355" "0" "50" "1" "155113104" "155113104" "subst" "0" "00006" "DPM3_000003" "g.155113104G>T" "0.14-0.92" "" "" "" "" "Germline" "" "rs4971073" "0" "" "" "g.155140628G>T" "" "VUS" "" "0000245356" "0" "50" "1" "155113074" "155113074" "subst" "0" "00006" "DPM3_000002" "g.155113074A>C" "" "" "" "" "" "Germline" "" "rs12745576" "0" "" "" "g.155140598A>C" "" "VUS" "" "0000346860" "0" "90" "1" "155112463" "155112463" "subst" "4.0832E-6" "02327" "DPM3_000001" "g.155112463A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155139987A>G" "" "pathogenic" "" "0000358100" "11" "70" "1" "155112676" "155112676" "subst" "1.6399E-5" "02410" "DPM3_000005" "g.155112676A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.155140200A>G" "" "likely pathogenic" "" "0000358470" "20" "90" "1" "155112437" "155112717" "del" "0" "02410" "DPM3_000004" "g.(?_155112437)_(155112717_?)del" "" "" "" "1_279del" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000693807" "3" "70" "1" "155112676" "155112676" "subst" "1.6399E-5" "00006" "DPM3_000005" "g.155112676A>G" "" "{PMID:Johnson 2018:30060766}" "" "" "" "Germline" "" "" "0" "" "" "g.155140200C>T" "" "likely pathogenic (recessive)" "" "0000697263" "3" "90" "1" "155112676" "155112676" "subst" "0" "00006" "DPM3_000007" "g.155112676A>C" "" "{PMID:Van Den Bergh 2017:28803818}, {PMID:Topf 2020:32528171}" "" "131T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000821792" "1" "90" "1" "155112463" "155112463" "subst" "0" "00006" "DPM3_000008" "g.155112463A>T" "" "{PMID:Song 2021:33200426}" "" "" "" "Germline" "" "" "0" "" "" "g.155139987A>T" "" "pathogenic (recessive)" "" "0000821916" "2" "90" "1" "155112593" "155112593" "subst" "4.07854E-6" "00006" "DPM3_000009" "g.155112593G>C" "" "{PMID:Song 2021:33200426}" "" "" "" "Germline" "" "" "0" "" "" "g.155140117G>C" "" "pathogenic (recessive)" "" "0000857035" "0" "30" "1" "155112657" "155112657" "subst" "0.000720733" "01804" "SLC50A1_000001" "g.155112657G>A" "" "" "" "DPM3(NM_018973.3):c.150C>T (p.(Ala50=))" "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 DPM3 ## Count = 12 "{{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}}" "0000245353" "00025556" "90" "344" "0" "344" "0" "c.344T>C" "r.(?)" "p.(Leu115Ser)" "" "0000245354" "00025556" "90" "344" "0" "344" "0" "c.344T>C" "r.(?)" "p.(Leu115Ser)" "" "0000245355" "00025556" "50" "-298" "0" "-298" "0" "c.-298C>A" "r.(?)" "p.(=)" "" "0000245356" "00025556" "50" "-268" "0" "-268" "0" "c.-268T>G" "r.(?)" "p.(=)" "" "0000346860" "00025556" "90" "344" "0" "344" "0" "c.344T>C" "r.(?)" "p.(Leu115Ser)" "" "0000358100" "00025556" "70" "131" "0" "131" "0" "c.131T>C" "" "" "" "0000358470" "00025556" "90" "0" "0" "0" "0" "c.-77_*71{0}" "r.0?" "p.0?" "_1_" "0000693807" "00025556" "70" "131" "0" "131" "0" "c.131T>C" "r.(?)" "p.(Leu44Pro)" "" "0000697263" "00025556" "90" "131" "0" "131" "0" "c.131T>G" "r.(?)" "p.(Leu44Arg)" "" "0000821792" "00025556" "90" "344" "0" "344" "0" "c.344T>A" "r.(?)" "p.(Leu115Ter)" "" "0000821916" "00025556" "90" "214" "0" "214" "0" "c.214C>G" "r.(?)" "p.(Pro72Ala)" "" "0000857035" "00025556" "30" "150" "0" "150" "0" "c.150C>T" "r.(?)" "p.(Ala50=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000152234" "0000245353" "0000156178" "0000358100" "0000156178" "0000358470" "0000312251" "0000693807" "0000315181" "0000697263" "0000391866" "0000821792" "0000391866" "0000821916"