### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MESDC2) # 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}}" "MESDC2" "mesoderm development candidate 2" "15" "q13" "unknown" "NC_000015.9" "UD_136088432489" "" "https://www.LOVD.nl/MESD" "Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases \r\nOsteogenesis Imperfecta Federation Europe (OIFE) " "1" "13520" "23184" "607783" "1" "1" "1" "1" "NOTE: The gene symbol for MESDC2 has been changed to MESD\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.\r\nThis database is supported by Osteogenesis Imperfecta Federation Europe (OIFE)" "" "g" "https://databases.lovd.nl/shared/refseq/MESDC2_codingDNA.html" "1" "" "NOTE: The gene symbol for MESDC2 has been changed to MESD
\r\n
Osteogenesis Imperfecta Variant Database\r\n
\r\n\r\n
" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00085" "2022-04-05 13:03:48" "00000" "2025-11-01 13:22:20" ## 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}}" "00025692" "MESDC2" "transcript variant 1" "000" "NM_015154.3" "" "NP_055969.1" "" "" "" "-28" "4172" "705" "81282160" "81268093" "00006" "2022-02-08 20:43:19" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31" "05891" "OI20" "osteogenesis imperfecta, type XX (OI20)" "AR" "618644" "" "" "" "00006" "2021-01-12 17:22:55" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MESDC2" "05296" "MESDC2" "05891" ## 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}}" "00326448" "" "" "" "1" "" "00006" "{PMID:Moosa 2019:31564437}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Brazil" "1y5m" "0" "" "" "" "Fam1" "00326449" "" "" "" "1" "" "00006" "{PMID:Moosa 2019:31564437}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Turkey" "" "0" "" "" "" "Fam2" "00326450" "" "" "" "1" "" "00006" "{PMID:Moosa 2019:31564437}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Portugal" "17y" "0" "" "" "" "Fam3" "00326451" "" "" "" "1" "" "00006" "{PMID:Moosa 2019:31564437}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Brazil" "" "0" "" "" "" "Fam4" "00326452" "" "" "" "1" "" "00006" "{PMID:Moosa 2019:31564437}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Brazil" "7m" "0" "" "" "" "Fam5" "00434981" "" "" "" "1" "" "04465" "{PMID:Ghosh 2023:36526215}" "" "F" "no" "India" ">08y" "0" "" "" "South Indian" "Pat1" "00466827" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat114" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00326448" "05296" "00326449" "05296" "00326450" "05296" "00326451" "05296" "00326452" "05296" "00434981" "05891" "00466827" "05296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05296, 05891 ## Count = 7 "{{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}}" "0000244916" "05296" "00326448" "00006" "Familial, autosomal recessive" "1y5m" "see paper; ..., 1y5m-deceased (sepsis); birth 39w, weight 2,135 g (-2.35 SD), length 45 cm (−1.93 SD); prenatal fractures; bluish sclera; no dentinogenesis imperfecta; no hypermobility joints; patent foramen ovale with small left to right shunt; no hearing impairment; old fractures of extremities, no vertebral/thoracic cage fractures; retarded gross motor function" "" "" "" "" "" "" "" "OI20" "osteogenesis imperfecta" "0000244917" "05296" "00326449" "00006" "Familial, autosomal recessive" "8y4m" "see paper; ..., birth 34w, weight 1,550 g (−2.8 SD), length 43 cm (−2.58 SD); no prenatal fractures; 11m-first fracture; white sclera; no eye abnormalities; no dentinogenesis imperfecta; disorganized dentition/clinical oligodontia; no hypermobility joints; slight conductive hearing loss due to adenoid hyperplasia; 5 old fractures of extremities, multiple fractures of vertebrae, ribs, both scapulae; retarded gross motor function" "" "" "" "" "" "" "" "OI20" "osteogenesis imperfecta" "0000244918" "05296" "00326450" "00006" "Familial, autosomal recessive" "11y1m" "see paper; ..., 17y-deceased (respiratory arrest); birth 37w, weight 3,730 g (+0.38 SD), length 51 cm (+0.38 SD); no prenatal fractures; 24m-first fracture; white sclera; no eye abnormalities; no dentinogenesis imperfecta; disorganized dentition/clinical oligodontia; no hearing impairment; fractures 2y-right clavicle, 3y6m-left femur, 4y-right femur, vertebral compression fractures; retarded gross motor function" "" "" "" "" "" "" "" "OI20" "osteogenesis imperfecta" "0000244919" "05296" "00326451" "00006" "Familial, autosomal recessive" "12y2m" "see paper; ..., birth at term, weight 2,730 g (−1.35 SD), length 52 cm (+0.76 SD); no prenatal fractures; 24m-first fracture; white sclera; no eye abnormalities; no dentinogenesis imperfecta; disorganized dentition/clinical oligodontia, radiographic evidence of oligodontia; no hypermobility joints; old fractures of extremities, fractures vertebrae and ribs; retarded gross motor function" "" "" "" "" "" "" "" "OI20" "osteogenesis imperfecta" "0000244920" "05296" "00326452" "00006" "Familial, autosomal recessive" "7m" "see paper; ..., 7m-deceased (respiratory arrest); birth 37w, weight 2,465 g (−1.73 SD), length 42 cm (−2.94 SD); prenatal fractures; bluish sclera; no eye abnormalities; no hypermobility joints; no cardiac impairments; old fractures fractures of both humeri, ribs, femur, and clavicle, multiple fractures ribs; retarded gross motor function" "" "" "" "" "" "" "" "OI20" "osteogenesis imperfecta" "0000325228" "05891" "00434981" "04465" "Familial, autosomal recessive" "08y" "" "" "" "" "" "" "" "" "" "" "0000352190" "05296" "00466827" "00006" "Familial, autosomal recessive" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" ## 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}}" "0000327662" "00326448" "1" "00006" "00006" "2021-01-12 19:02:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000327663" "00326449" "1" "00006" "00006" "2021-01-12 19:02:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000327664" "00326450" "1" "00006" "00006" "2021-01-12 19:02:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000327665" "00326451" "1" "00006" "00006" "2021-01-12 19:02:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000327666" "00326452" "1" "00006" "00006" "2021-01-12 19:02:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436454" "00434981" "1" "04465" "04465" "2023-04-17 16:38:56" "" "" "SEQ-NG" "DNA" "" "Whole Exome Sequencing (WES)" "0000468491" "00466827" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000327662" "MESDC2" "0000327663" "MESDC2" "0000327664" "MESDC2" "0000327665" "MESDC2" "0000327666" "MESDC2" ## 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}}" "0000711454" "3" "90" "15" "81271640" "81271640" "dup" "0" "00006" "MESDC2_000003" "g.81271640dup" "" "{PMID:Moosa 2019:31564437}" "" "632dupA" "" "Germline" "" "" "0" "" "" "g.80979299dup" "" "pathogenic (recessive)" "" "0000711455" "3" "90" "15" "81271639" "81271640" "del" "0" "00006" "MESDC2_000002" "g.81271639_81271640del" "" "{PMID:Moosa 2019:31564437}" "" "" "" "Germline" "" "" "0" "" "" "g.80979298_80979299del" "" "pathogenic (recessive)" "" "0000711456" "3" "90" "15" "81271589" "81271589" "subst" "0" "00006" "MESDC2_000001" "g.81271589G>A" "" "{PMID:Moosa 2019:31564437}" "" "" "" "Germline" "" "" "0" "" "" "g.80979248G>A" "" "pathogenic (recessive)" "" "0000711457" "3" "90" "15" "81271640" "81271640" "dup" "0" "00006" "MESDC2_000003" "g.81271640dup" "" "{PMID:Moosa 2019:31564437}" "" "632dupA" "" "Germline" "" "" "0" "" "" "g.80979299dup" "" "pathogenic (recessive)" "" "0000711458" "3" "90" "15" "81271657" "81271661" "del" "0" "00006" "MESDC2_000004" "g.81271657_81271661del" "" "{PMID:Moosa 2019:31564437}" "" "" "" "Germline" "" "" "0" "" "" "g.80979316_80979320del" "" "pathogenic (recessive)" "" "0000892302" "0" "30" "15" "81271635" "81271635" "subst" "1.21949E-5" "02329" "KIAA1199_000006" "g.81271635T>C" "" "" "" "MESD(NM_015154.3):c.630A>G (p.K210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927463" "0" "90" "15" "81271568" "81271568" "subst" "0" "04465" "MESDC2_000005" "g.81271568C>T" "" "{PMID:Ghosh 2023:36526215}" "" "" "" "Germline" "" "" "0" "" "" "g.80979227C>T" "" "pathogenic (recessive)" "" "0000950447" "0" "30" "15" "81282152" "81282152" "subst" "0.00251735" "01804" "KIAA1199_000007" "g.81282152G>A" "" "" "" "MESDC2(NM_015154.1):c.-20C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967975" "0" "30" "15" "81282122" "81282122" "subst" "0.00147929" "02329" "KIAA1199_000008" "g.81282122G>A" "" "" "" "MESD(NM_015154.3):c.11C>T (p.S4F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981444" "0" "50" "15" "81274339" "81274339" "subst" "1.6269E-5" "01804" "KIAA1199_000009" "g.81274339G>A" "" "" "" "MESD(NM_015154.3):c.398C>T (p.(Thr133Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001048325" "3" "90" "15" "81271639" "81271640" "del" "0" "00006" "MESDC2_000002" "g.81271639_81271640del" "" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Germline" "" "" "0" "" "" "g.80979298_80979299del" "VCV000692264.1" "pathogenic" "" "0001055224" "0" "30" "15" "81282113" "81282113" "subst" "0" "01804" "KIAA1199_000011" "g.81282113G>A" "" "" "" "MESD(NM_015154.3):c.20C>T (p.(Ala7Val))" "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 MESDC2 ## 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}}" "0000711454" "00025692" "90" "632" "0" "632" "0" "c.632dup" "r.(?)" "p.(Lys212Glufs*19)" "" "0000711455" "00025692" "90" "631" "0" "632" "0" "c.631_632del" "r.(?)" "p.(Lys211Glufs*19)" "" "0000711456" "00025692" "90" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Arg226*)" "" "0000711457" "00025692" "90" "632" "0" "632" "0" "c.632dup" "r.(?)" "p.(Lys212Glufs*19)" "" "0000711458" "00025692" "90" "607" "0" "611" "0" "c.607_611del" "r.(?)" "p.(Thr203Alafs*26)" "" "0000892302" "00025692" "30" "630" "0" "630" "0" "c.630A>G" "r.(?)" "p.(Lys210=)" "" "0000927463" "00025692" "90" "697" "0" "697" "0" "c.697G>A" "r.(?)" "p.(Asp233Asn)" "" "0000950447" "00025692" "30" "-20" "0" "-20" "0" "c.-20C>T" "r.(?)" "p.(=)" "" "0000967975" "00025692" "30" "11" "0" "11" "0" "c.11C>T" "r.(?)" "p.(Ser4Phe)" "" "0000981444" "00025692" "50" "398" "0" "398" "0" "c.398C>T" "r.(?)" "p.(Thr133Met)" "" "0001048325" "00025692" "90" "631" "0" "632" "0" "c.631_632del" "r.(?)" "p.(Lys211GlufsTer19)" "" "0001055224" "00025692" "30" "20" "0" "20" "0" "c.20C>T" "r.(?)" "p.(Ala7Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000327662" "0000711454" "0000327663" "0000711455" "0000327664" "0000711456" "0000327665" "0000711457" "0000327666" "0000711458" "0000436454" "0000927463" "0000468491" "0001048325"