### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PRDM5) # 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}}" "PRDM5" "PR domain containing 5" "4" "q25-q26" "unknown" "NC_000004.11" "UD_132610694116" "" "https://www.LOVD.nl/PRDM5" "" "1" "9349" "11107" "614161" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/PRDM5_codingDNA.html" "1" "" "

Ehlers Danlos Syndrome Variant Database

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" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00085" "2024-02-14 14:38:48" "00006" "2025-09-24 08:32:36" ## 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}}" "00016776" "PRDM5" "PR domain containing 5" "001" "NM_018699.2" "" "NP_061169.2" "" "" "" "-250" "2230" "1893" "121844013" "121615929" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00169" "EDS" "Ehlers-Danlos syndrome (EDS)" "" "" "" "" "" "00006" "2013-08-01 11:03:44" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01178" "AN" "aniridia (AN)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-07-12 09:10:59" "03570" "BCS2" "cornea, brittle, syndrome type 2 (BCS-2)" "AR" "614170" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31" "05352" "BCS" "cornea, brittle, syndrome (BCS)" "" "" "" "" "" "00006" "2017-11-29 08:47:50" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "PRDM5" "00169" "PRDM5" "03570" "PRDM5" "05352" ## Individuals ## Do not remove or alter this header ## ## Count = 32 "{{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}}" "00038385" "" "" "" "1" "" "00772" "{PMID:Porter 2015:26395458}" "" "F" "?" "Turkey" "" "0" "" "" "white" "Pat4" "00038386" "" "" "" "1" "" "00772" "{PMID:Porter 2015:26395458}" "" "F" "?" "Spain" "" "0" "" "" "white" "Pat5" "00051528" "" "" "" "1" "" "01404" "{PMID:Micheal 2016:27032025}, {DOI:Micheal 2016:10.1097/ICO.0000000000000824}" "sporadic patient" "M" "no" "Serbia" "" "0" "" "" "" "Pat1" "00051532" "" "" "" "4" "" "01404" "{PMID:Micheal 2016:27032025}, {DOI:Micheal 2016:10.1097/ICO.0000000000000824}" "4-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "FamPatIV5" "00143193" "" "" "" "1" "" "00006" "{PMID:Aldahmesh 2012:22122778}" "healthy first cousins parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Pat1" "00293529" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00419510" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9128" "00448060" "" "" "" "1" "" "00006" "{PMID:Burkitt Wright 2011:21664999}" "family" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam901Pat04" "00448061" "" "" "" "2" "" "00006" "{PMID:Burkitt Wright 2011:21664999}" "family, 2 affected" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam902Pat03" "00448062" "" "" "00448061" "1" "" "00006" "{PMID:Burkitt Wright 2011:21664999}" "relative" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam902Pat05" "00448063" "" "" "" "2" "" "00006" "{PMID:Burkitt Wright 2011:21664999}" "family, 2 affected" "" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam914Pat04" "00448064" "" "" "00448063" "1" "" "00006" "{PMID:Burkitt Wright 2011:21664999}" "relative" "" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam914Pat06" "00448065" "" "" "" "2" "" "00006" "{PMID:Burkitt Wright 2011:21664999}" "family, 2 affected" "" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamK921Pat03" "00448066" "" "" "00448065" "1" "" "00006" "{PMID:Burkitt Wright 2011:21664999}" "relative" "" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamK923Pat03" "00448067" "" "" "" "9" "" "00006" "{PMID:Burkitt Wright 2011:21664999}" "5-generation family, 9 affected (9F)" "F" "yes" "Pakistan" "" "0" "" "" "" "FamBCS-001PatIV4" "00448068" "" "" "00448067" "1" "" "00006" "{PMID:Burkitt Wright 2011:21664999}" "sister" "F" "yes" "Pakistan" "" "0" "" "" "" "FamBCS-001PatIV6" "00448069" "" "" "00448067" "1" "" "00006" "{PMID:Burkitt Wright 2011:21664999}" "sister" "F" "yes" "Pakistan" "" "0" "" "" "" "FamBCS-001PatIV8" "00448070" "" "" "00448067" "1" "" "00006" "{PMID:Burkitt Wright 2011:21664999}" "twin sisters" "F" "yes" "Pakistan" "" "0" "" "" "" "FamBCS-001PatIV9" "00448071" "" "" "00448067" "1" "" "00006" "{PMID:Burkitt Wright 2011:21664999}" "twin sisters" "F" "yes" "Pakistan" "" "0" "" "" "" "FamBCS-001PatIV6" "00448072" "" "" "" "4" "" "00006" "{PMID:Burkitt Wright 2011:21664999}" "5-generation family, 4 affected (2F, 2M)" "M" "yes" "Pakistan" "" "0" "" "" "" "FamBCS-002PatV1" "00448073" "" "" "00448072" "1" "" "00006" "{PMID:Burkitt Wright 2011:21664999}" "nephew" "F" "yes" "Pakistan" "" "0" "" "" "" "FamBCS-002PatV4" "00448074" "" "" "00448072" "1" "" "00006" "{PMID:Burkitt Wright 2011:21664999}" "niece" "M" "yes" "Pakistan" "" "0" "" "" "" "FamBCS-002PatV5" "00448075" "" "" "" "1" "" "00006" "{PMID:Burkitt Wright 2011:21664999}" "analysis 401 control individuals" "" "" "" "" "0" "" "" "" "controls" "00448076" "" "" "" "16" "" "00006" "{PMID:Burkitt Wright 2011:21664999}" "analysis 401 control individuals" "" "" "" "" "0" "" "" "" "controls" "00448077" "" "" "" "1" "" "00006" "{PMID:Burkitt Wright 2011:21664999}" "analysis 401 control individuals" "" "" "" "" "0" "" "" "" "controls" "00448078" "" "" "" "15" "" "00006" "{PMID:Burkitt Wright 2011:21664999}" "analysis 401 control individuals" "" "" "" "" "0" "" "" "" "controls" "00448079" "" "" "" "1" "" "00006" "{PMID:Burkitt Wright 2011:21664999}" "analysis 401 control individuals" "" "" "" "" "0" "" "" "" "controls" "00448080" "" "" "" "2" "" "00006" "{PMID:Burkitt Wright 2011:21664999}" "analysis 401 control individuals" "" "" "" "" "0" "" "" "" "controls" "00448081" "" "" "" "1" "" "00006" "{PMID:Burkitt Wright 2011:21664999}" "analysis 401 control individuals" "" "" "" "" "0" "" "" "" "controls" "00450417" "" "" "" "1" "" "00006" "{PMID:Hall 2024:38050128}" "" "" "" "" "" "0" "" "" "" "RPID75" "00465842" "" "" "" "1" "" "00006" "{PMID:Alazami 2016:27023906}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam36" "00466834" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat121" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 32 "{{individualid}}" "{{diseaseid}}" "00038385" "03570" "00038386" "03570" "00051528" "00198" "00051532" "03570" "00143193" "05352" "00293529" "00198" "00419510" "00198" "00448060" "00169" "00448061" "00169" "00448062" "00169" "00448063" "05352" "00448064" "05352" "00448065" "05352" "00448066" "05352" "00448067" "05352" "00448068" "05352" "00448069" "05352" "00448070" "05352" "00448071" "05352" "00448072" "05352" "00448073" "05352" "00448074" "05352" "00448075" "00000" "00448076" "00000" "00448077" "00000" "00448078" "00000" "00448079" "00000" "00448080" "00000" "00448081" "00000" "00450417" "01178" "00465842" "00198" "00466834" "05296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00169, 00198, 01178, 03570, 05296, 05352 ## Count = 24 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Enzyme/CreatineKinase}}" "{{Phenotype/Muscle/Electromyography}}" "{{Phenotype/Muscle/Biopsy}}" "{{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}}" "0000038126" "00198" "00051528" "01404" "Familial, autosomal recessive" "" "Brittle cornea syndrome; diagnosed with congenital hip dislocation requiring surgery; 5y-bilateral ocular trauma, sustained bilateral corneal perforations and retinal detachments in both\r\neyes, high myopia; macrocephaly, enlarged arm span, pectus carinatum, arachnodactyly, pes plani, scoliosis, hearing loss.; ECG unremarkable with\r\nnormal aortic root measurements" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038135" "03570" "00051532" "01404" "Familial, autosomal recessive" "" "see paper, brittel cornea syndrome, ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000115941" "05352" "00143193" "00006" "Familial, autosomal recessive" "02y" "see paper, ..., blue sclerae, keratoconus" "" "" "" "" "" "" "" "" "" "" "" "" "BCS2" "brittle cornea syndrome" "" "0000310791" "00198" "00419510" "02300" "Familial, autosomal recessive" "21y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000337249" "00169" "00448060" "00006" "Familial, autosomal recessive" "" "see paper; ..., corneal rupture; myopia; blue sclera; no keratoconus; keratoglobus; megalocornea; no poor healing/abnormal scarring; no soft skin/easy bruising; no treatment for developmental dysplasia hip; no femoral epiphyseal changes; scoliosis; small joint hypermobility; no fractures; no myalgia; no abnormal gait; deafness; severe scleral fragility; skin hyperelasticity" "" "" "" "" "" "" "" "" "" "" "" "" "" "Ehlers-Danlos syndrome VI" "" "0000337250" "00169" "00448061" "00006" "Familial, autosomal recessive" "" "see paper; ..., no corneal rupture; myopia; blue sclera; no keratoconus; no keratoglobus; no megalocornea; no poor healing/abnormal scarring; no soft skin/easy bruising; no treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; small joint hypermobility; no fractures; no myalgia; no abnormal gait; no deafness; sclerocornea; cornea plana" "" "" "" "" "" "" "" "" "" "" "" "" "" "Ehlers-Danlos syndrome VI" "" "0000337251" "00169" "00448062" "00006" "Familial, autosomal recessive" "" "see paper; ..., corneal rupture; myopia; blue sclera; no keratoconus; no keratoglobus; no poor healing/abnormal scarring; no soft skin/easy bruising; treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; small joint hypermobility; no fractures; no myalgia; no abnormal gait; no deafness; sclerocornea; cornea plana" "" "" "" "" "" "" "" "" "" "" "" "" "" "Ehlers-Danlos syndrome VI" "" "0000337252" "05352" "00448063" "00006" "Familial, autosomal recessive" "" "see paper; ..., corneal rupture; blue sclera; keratoconus; no keratoglobus; no megalocornea; no poor healing/abnormal scarring; no soft skin/easy bruising; no treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; no small joint hypermobility; no fractures; no myalgia; no abnormal gait; no deafness" "" "" "" "" "" "" "" "" "" "" "" "" "BCS2" "brittle cornea syndrome" "" "0000337253" "05352" "00448064" "00006" "Familial, autosomal recessive" "" "see paper; ..., corneal rupture; blue sclera; no keratoconus; no keratoglobus; no poor healing/abnormal scarring; no soft skin/easy bruising; no treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; no small joint hypermobility; no fractures; no myalgia; no abnormal gait; no deafness" "" "" "" "" "" "" "" "" "" "" "" "" "BCS2" "brittle cornea syndrome" "" "0000337254" "05352" "00448065" "00006" "Familial, autosomal recessive" "" "see paper; ..., no corneal rupture; myopia; blue sclera; no keratoconus; keratoglobus; megalocornea; no poor healing/abnormal scarring; no soft skin/easy bruising; no treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; small joint hypermobility; no fractures; myalgia; abnormal gait; no deafness; corneal opacity; hernia; generalized joint hypermobility" "" "" "" "" "" "" "" "" "" "" "" "" "BCS2" "brittle cornea syndrome" "" "0000337255" "05352" "00448066" "00006" "Familial, autosomal recessive" "" "see paper; ..., no corneal rupture; myopia; blue sclera; keratoconus; no keratoglobus; no megalocornea; no poor healing/abnormal scarring; soft skin/easy bruising; no treatment for developmental dysplasia hip; no femoral epiphyseal changes; scoliosis; small joint hypermobility; no fractures; no myalgia; abnormal gait; no deafness; hernia; skin hyperelasticity; genu vara; pes planus; tibial bowing; generalized joint hypermobility" "" "" "" "" "" "" "" "" "" "" "" "" "BCS2" "brittle cornea syndrome" "" "0000337256" "05352" "00448067" "00006" "Familial, autosomal recessive" "" "see paper; ..., corneal rupture; myopia; blue sclera; keratoconus; keratoglobus; no megalocornea; no poor healing/abnormal scarring; soft skin/easy bruising; treatment for developmental dysplasia hip; no femoral epiphyseal changes; scoliosis; small joint hypermobility; no fractures; myalgia; abnormal gait; deafness; hypercompliant tympanic membranes; primiparous cervical incompetence" "" "" "" "" "" "" "" "" "" "" "" "" "BCS2" "brittle cornea syndrome" "" "0000337257" "05352" "00448068" "00006" "Familial, autosomal recessive" "" "see paper; ..., corneal rupture; myopia; blue sclera; keratoconus; keratoglobus; no megalocornea; no poor healing/abnormal scarring; soft skin/easy bruising; no treatment for developmental dysplasia hip; femoral epiphyseal changes; no scoliosis; small joint hypermobility; no fractures; myalgia; abnormal gait; deafness; hypercompliant tympanic membranes" "" "" "" "" "" "" "" "" "" "" "" "" "BCS2" "brittle cornea syndrome" "" "0000337258" "05352" "00448069" "00006" "Familial, autosomal recessive" "" "see paper; ..., corneal rupture; myopia; blue sclera; keratoconus; keratoglobus; no megalocornea; no poor healing/abnormal scarring; soft skin/easy bruising; no treatment for developmental dysplasia hip; femoral epiphyseal changes; no scoliosis; small joint hypermobility; no fractures; no myalgia; abnormal gait; deafness; hypercompliant tympanic membranes" "" "" "" "" "" "" "" "" "" "" "" "" "BCS2" "brittle cornea syndrome" "" "0000337259" "05352" "00448070" "00006" "Familial, autosomal recessive" "" "see paper; ..., corneal rupture; myopia; blue sclera; keratoconus; keratoglobus; no megalocornea; no poor healing/abnormal scarring; soft skin/easy bruising; no treatment for developmental dysplasia hip; femoral epiphyseal changes; no scoliosis; small joint hypermobility; no fractures; no myalgia; abnormal gait; deafness; hypercompliant tympanic membranes" "" "" "" "" "" "" "" "" "" "" "" "" "BCS2" "brittle cornea syndrome" "" "0000337260" "05352" "00448071" "00006" "Familial, autosomal recessive" "" "see paper; ..., no corneal rupture; no myopia; blue sclera; no keratoconus; no keratoglobus; no megalocornea; no poor healing/abnormal scarring; no soft skin/easy bruising; no treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; small joint hypermobility; fractures; myalgia; abnormal gait; deafness; hypercompliant tympanic membranes; learning disability" "" "" "" "" "" "" "" "" "" "" "" "" "BCS2" "brittle cornea syndrome" "" "0000337261" "05352" "00448072" "00006" "Familial, autosomal recessive" "" "see paper; ..., no corneal rupture; myopia; blue sclera; keratoconus; no keratoglobus; no megalocornea; poor healing/abnormal scarring; no soft skin/easy bruising; treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; small joint hypermobility; no fractures; no myalgia; normal gait; deafness; hypercompliant tympanic membranes; hernia" "" "" "" "" "" "" "" "" "" "" "" "" "BCS2" "brittle cornea syndrome" "" "0000337262" "05352" "00448073" "00006" "Familial, autosomal recessive" "" "see paper; ..., no corneal rupture; myopia; blue sclera; no keratoconus; no keratoglobus; no megalocornea; no poor healing/abnormal scarring; no soft skin/easy bruising; treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; small joint hypermobility; fractures; no myalgia; abnormal gait; deafness; hypercompliant tympanic membranes; learning disability" "" "" "" "" "" "" "" "" "" "" "" "" "BCS2" "brittle cornea syndrome" "" "0000337263" "05352" "00448074" "00006" "Familial, autosomal recessive" "" "see paper; ..., no corneal rupture; myopia; blue sclera; no keratoconus; no keratoglobus; no megalocornea; no poor healing/abnormal scarring; no soft skin/easy bruising; no treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; small joint hypermobility; fractures; no myalgia; normal gait; deafness; no hypercompliant tympanic membranes; learning disability; cleft lip and palate; phenylketonuria" "" "" "" "" "" "" "" "" "" "" "" "" "BCS2" "brittle cornea syndrome" "" "0000337264" "03570" "00038385" "00006" "Familial, autosomal recessive" "09y" "see paper; ..., marked corneal thinning, irregular astigmatism, characteristic sclerae, arachnodactyly, joint laxity, particularly large joints upper extremities, pes planus" "" "" "" "" "" "" "" "" "" "" "" "" "BCS2" "brittle cornea syndrome" "" "0000337265" "03570" "00038386" "00006" "Familial, autosomal recessive" "" "see paper; ..., blue sclera, significant corneal thinning, high myopia with choroidal neovascularization, scoliosis, arachnodactyly, joint hypermobility" "" "" "" "" "" "" "" "" "" "" "" "" "BCS2" "brittle cornea syndrome" "" "0000339478" "01178" "00450417" "00006" "Isolated (sporadic)" "" "aniridia" "" "" "" "" "" "" "" "" "" "" "" "" "AN1" "aniridia" "" "0000351289" "00198" "00465842" "00006" "Familial, autosomal recessive" "" "see paper; ..., Marked joint laxity, blue sclera, depressed nasal bridge, mild generalized hypotonia" "" "" "" "" "" "" "" "" "" "" "" "" "" "joint laxity" "" "0000352197" "05296" "00466834" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" ## Screenings ## Do not remove or alter this header ## ## Count = 32 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000038615" "00038385" "1" "00772" "00772" "2015-05-07 15:41:16" "" "" "SEQ" "DNA" "blood" "" "0000038616" "00038386" "1" "00772" "00772" "2015-05-07 15:52:25" "" "" "SEQ" "DNA" "blood" "" "0000051475" "00051528" "1" "01404" "01404" "2015-10-01 13:27:59" "00006" "2017-11-29 08:26:11" "SEQ;SEQ-NG" "DNA" "" "" "0000051477" "00051532" "1" "01404" "01404" "2015-10-01 13:36:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000144050" "00143193" "1" "00006" "00006" "2017-11-29 09:14:51" "00006" "2017-11-29 09:23:22" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000294697" "00293529" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000420814" "00419510" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449633" "00448060" "1" "00006" "00006" "2024-02-14 13:52:54" "" "" "SEQ" "DNA" "" "" "0000449634" "00448061" "1" "00006" "00006" "2024-02-14 13:52:54" "" "" "SEQ" "DNA" "" "" "0000449635" "00448062" "1" "00006" "00006" "2024-02-14 13:52:54" "" "" "SEQ" "DNA" "" "" "0000449636" "00448063" "1" "00006" "00006" "2024-02-14 13:52:54" "" "" "SEQ" "DNA" "" "" "0000449637" "00448064" "1" "00006" "00006" "2024-02-14 13:52:54" "" "" "SEQ" "DNA" "" "" "0000449638" "00448065" "1" "00006" "00006" "2024-02-14 13:52:54" "" "" "SEQ" "DNA" "" "" "0000449639" "00448066" "1" "00006" "00006" "2024-02-14 13:52:54" "" "" "SEQ" "DNA" "" "" "0000449640" "00448067" "1" "00006" "00006" "2024-02-14 13:52:54" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000449641" "00448068" "1" "00006" "00006" "2024-02-14 13:52:54" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000449642" "00448069" "1" "00006" "00006" "2024-02-14 13:52:54" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000449643" "00448070" "1" "00006" "00006" "2024-02-14 13:52:54" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000449644" "00448071" "1" "00006" "00006" "2024-02-14 13:52:54" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000449645" "00448072" "1" "00006" "00006" "2024-02-14 13:52:54" "" "" "SEQ" "DNA" "" "" "0000449646" "00448073" "1" "00006" "00006" "2024-02-14 13:52:54" "" "" "SEQ" "DNA" "" "" "0000449647" "00448074" "1" "00006" "00006" "2024-02-14 13:52:54" "" "" "SEQ" "DNA" "" "" "0000449648" "00448075" "1" "00006" "00006" "2024-02-14 14:04:31" "" "" "SEQ" "DNA" "" "" "0000449649" "00448076" "1" "00006" "00006" "2024-02-14 14:04:31" "" "" "SEQ" "DNA" "" "" "0000449650" "00448077" "1" "00006" "00006" "2024-02-14 14:04:31" "" "" "SEQ" "DNA" "" "" "0000449651" "00448078" "1" "00006" "00006" "2024-02-14 14:04:31" "" "" "SEQ" "DNA" "" "" "0000449652" "00448079" "1" "00006" "00006" "2024-02-14 14:04:31" "" "" "SEQ" "DNA" "" "" "0000449653" "00448080" "1" "00006" "00006" "2024-02-14 14:04:31" "" "" "SEQ" "DNA" "" "" "0000449654" "00448081" "1" "00006" "00006" "2024-02-14 14:04:31" "" "" "SEQ" "DNA" "" "" "0000452014" "00450417" "1" "00006" "00006" "2024-05-26 14:07:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000467493" "00465842" "1" "00006" "00006" "2025-06-07 12:17:17" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000468498" "00466834" "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 = 27 "{{screeningid}}" "{{geneid}}" "0000038615" "PRDM5" "0000038616" "ZNF469" "0000051475" "PRDM5" "0000144050" "BCO2" "0000144050" "PRDM5" "0000449633" "PRDM5" "0000449634" "PRDM5" "0000449635" "PRDM5" "0000449636" "PRDM5" "0000449637" "PRDM5" "0000449638" "PRDM5" "0000449639" "PRDM5" "0000449640" "PRDM5" "0000449641" "PRDM5" "0000449642" "PRDM5" "0000449643" "PRDM5" "0000449644" "PRDM5" "0000449645" "PRDM5" "0000449646" "PRDM5" "0000449647" "PRDM5" "0000449648" "PRDM5" "0000449649" "PRDM5" "0000449650" "PRDM5" "0000449651" "PRDM5" "0000449652" "PRDM5" "0000449653" "PRDM5" "0000449654" "PRDM5" ## 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 = 59 "{{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}}" "0000066269" "3" "70" "4" "121774626" "121774626" "subst" "1.62583E-5" "00772" "PRDM5_000032" "g.121774626G>A" "" "{PMID:Porter 2015:26395458}" "" "" "" "Germline" "yes" "" "0" "" "" "g.120853471G>A" "" "likely pathogenic (recessive)" "" "0000066270" "3" "90" "4" "121742401" "121742401" "subst" "0" "00772" "PRDM5_000003" "g.121742401C>A" "" "{PMID:Porter 2015:26395458}" "" "" "" "Germline" "yes" "" "0" "" "" "g.120821246C>A" "" "pathogenic (recessive)" "" "0000080526" "3" "70" "4" "121843666" "121843666" "subst" "0" "01404" "PRDM5_000001" "g.121843666C>T" "" "" "" "" "homozygosity mapping" "Germline" "yes" "" "0" "" "" "g.120922511C>T" "" "likely pathogenic" "" "0000234453" "3" "90" "4" "121720872" "121720872" "del" "8.15029E-6" "00006" "PRDM5_000004" "g.121720872del" "" "{PMID:Micheal 2016:27032025}, {DOI:Micheal 2016:10.1097/ICO.0000000000000824}" "" "" "" "Germline" "" "" "0" "" "" "g.120799717del" "" "pathogenic" "" "0000234459" "3" "90" "4" "121843669" "121843669" "subst" "0" "00006" "PRDM5_000005" "g.121843669A>G" "" "{PMID:Aldahmesh 2012:22122778}" "" "" "" "Germline" "" "" "0" "" "" "g.120922514A>G" "" "pathogenic" "" "0000250092" "0" "10" "4" "121706201" "121706201" "subst" "0.21657" "02329" "PRDM5_000007" "g.121706201A>G" "" "" "" "PRDM5(NM_018699.4):c.1234T>C (p.L412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.120785046A>G" "" "benign" "" "0000250171" "0" "10" "4" "121719544" "121719544" "subst" "0.0231277" "02329" "PRDM5_000008" "g.121719544A>T" "" "" "" "PRDM5(NM_018699.4):c.1066T>A (p.S356T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.120798389A>T" "" "benign" "" "0000250426" "0" "30" "4" "121719594" "121719594" "subst" "0.000579077" "02329" "PRDM5_000010" "g.121719594A>G" "" "" "" "PRDM5(NM_018699.4):c.1031-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.120798439A>G" "" "likely benign" "" "0000299070" "0" "50" "4" "121720829" "121720829" "subst" "0" "02329" "PRDM5_000011" "g.121720829C>T" "" "" "" "PRDM5(NM_018699.4):c.1017G>A (p.M339I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.120799674C>T" "" "VUS" "" "0000299072" "0" "10" "4" "121706162" "121706162" "subst" "0.0019292" "02329" "PRDM5_000006" "g.121706162T>C" "" "" "" "PRDM5(NM_018699.4):c.1273A>G (p.I425V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.120785007T>C" "" "benign" "" "0000299073" "0" "10" "4" "121739667" "121739667" "subst" "0.0113445" "02329" "PRDM5_000017" "g.121739667T>A" "" "" "" "PRDM5(NM_018699.4):c.491A>T (p.K164I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.120818512T>A" "" "benign" "" "0000299074" "0" "10" "4" "121738070" "121738070" "subst" "0.0243045" "02329" "PRDM5_000016" "g.121738070C>T" "" "" "" "PRDM5(NM_018699.4):c.660G>A (p.(Gln220=), p.Q220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.120816915C>T" "" "benign" "" "0000299075" "0" "10" "4" "121738049" "121738049" "subst" "0.298705" "02329" "PRDM5_000015" "g.121738049T>C" "" "" "" "PRDM5(NM_018699.4):c.681A>G (p.L227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.120816894T>C" "" "benign" "" "0000299076" "0" "50" "4" "121737704" "121737704" "subst" "6.91777E-5" "02329" "PRDM5_000014" "g.121737704G>A" "" "" "" "PRDM5(NM_018699.4):c.769C>T (p.R257W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.120816549G>A" "" "VUS" "" "0000299077" "0" "10" "4" "121737624" "121737624" "subst" "0.0119894" "02329" "PRDM5_000013" "g.121737624C>T" "" "" "" "PRDM5(NM_018699.4):c.849G>A (p.Q283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.120816469C>T" "" "benign" "" "0000299078" "0" "30" "4" "121732624" "121732624" "subst" "0" "02329" "PRDM5_000012" "g.121732624C>A" "" "" "" "PRDM5(NM_018699.4):c.866-20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.120811469C>A" "" "likely benign" "" "0000521421" "0" "10" "4" "121702463" "121702463" "subst" "0.00182758" "02329" "PRDM5_000018" "g.121702463G>A" "" "" "" "PRDM5(NM_018699.3):c.1283-5C>T, PRDM5(NM_018699.4):c.1283-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120781308G>A" "" "benign" "" "0000521422" "0" "50" "4" "121706194" "121706194" "subst" "1.22111E-5" "01943" "PRDM5_000019" "g.121706194C>A" "" "" "" "PRDM5(NM_018699.3):c.1241G>T (p.R414L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120785039C>A" "" "VUS" "" "0000521423" "0" "10" "4" "121719591" "121719591" "dup" "0" "02329" "PRDM5_000020" "g.121719591dup" "" "" "" "PRDM5(NM_018699.4):c.1031-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120798436dup" "" "benign" "" "0000521424" "0" "10" "4" "121742459" "121742459" "subst" "0.00076808" "01943" "PRDM5_000021" "g.121742459T>G" "" "" "" "PRDM5(NM_018699.3):c.342A>C (p.E114D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120821304T>G" "" "benign" "" "0000521425" "0" "50" "4" "121774644" "121774644" "subst" "1.21926E-5" "01943" "PRDM5_000022" "g.121774644G>A" "" "" "" "PRDM5(NM_018699.3):c.229C>T (p.R77W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120853489G>A" "" "VUS" "" "0000521426" "0" "50" "4" "121828678" "121828678" "subst" "0.000264043" "01943" "PRDM5_000023" "g.121828678C>G" "" "" "" "PRDM5(NM_018699.3):c.128G>C (p.R43T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120907523C>G" "" "VUS" "" "0000609050" "0" "30" "4" "121702463" "121702463" "subst" "0.00182758" "01943" "PRDM5_000018" "g.121702463G>A" "" "" "" "PRDM5(NM_018699.3):c.1283-5C>T, PRDM5(NM_018699.4):c.1283-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120781308G>A" "" "likely benign" "" "0000609051" "0" "30" "4" "121738064" "121738064" "subst" "0" "01943" "PRDM5_000024" "g.121738064T>A" "" "" "" "PRDM5(NM_018699.3):c.666A>T (p.T222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120816909T>A" "" "likely benign" "" "0000651386" "1" "50" "4" "121616146" "121616146" "subst" "0" "03575" "PRDM5_000025" "g.121616146A>G" "13/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs77157999}" "Germline" "" "rs77157999" "0" "" "" "g.120694991A>G" "" "VUS" "" "0000655077" "0" "30" "4" "121706223" "121706223" "subst" "0" "01943" "PRDM5_000026" "g.121706223G>A" "" "" "" "PRDM5(NM_018699.3):c.1212C>T (p.F404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120785068G>A" "" "likely benign" "" "0000719722" "0" "30" "4" "121738102" "121738103" "del" "0" "02329" "PRDM5_000027" "g.121738102_121738103del" "" "" "" "PRDM5(NM_018699.4):c.651-21_651-20delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801483" "0" "30" "4" "121774556" "121774556" "subst" "9.7511E-5" "02329" "PRDM5_000028" "g.121774556G>A" "" "" "" "PRDM5(NM_018699.4):c.300+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850515" "0" "30" "4" "121737716" "121737716" "subst" "4.47686E-5" "01943" "PRDM5_000030" "g.121737716G>T" "" "" "" "PRDM5(NM_018699.3):c.757C>A (p.Q253K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859218" "0" "50" "4" "121631559" "121631559" "subst" "0.000929133" "01943" "PRDM5_000029" "g.121631559A>G" "" "" "" "PRDM5(NM_018699.3):c.1633T>C (p.Y545H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000881173" "3" "90" "4" "121720872" "121720872" "del" "8.15029E-6" "02300" "PRDM5_000004" "g.121720872del" "" "{PMID:Marinakis 2021:34008892}" "" "c.974delG" "ACMG PVS1, PM2, PP3, PP5" "Germline" "" "rs766853150" "0" "" "" "g.120799717del" "" "pathogenic (recessive)" "ACMG" "0000924050" "0" "30" "4" "121774621" "121774621" "subst" "3.65794E-5" "02329" "PRDM5_000031" "g.121774621G>A" "" "" "" "PRDM5(NM_018699.4):c.252C>T (p.F84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960067" "3" "90" "4" "121843670" "121843670" "subst" "0" "00006" "PRDM5_000041" "g.121843670C>T" "" "{PMID:Burkitt Wright 2011:21664999}" "" "" "" "Germline" "" "" "0" "" "" "g.120922515C>T" "" "pathogenic (recessive)" "" "0000960068" "3" "90" "4" "121742481" "121742481" "subst" "8.13054E-6" "00006" "PRDM5_000040" "g.121742481T>C" "" "{PMID:Burkitt Wright 2011:21664999}" "" "" "" "Germline" "yes" "" "0" "" "" "g.120821326T>C" "" "pathogenic (recessive)" "" "0000960069" "3" "90" "4" "121742481" "121742481" "subst" "8.13054E-6" "00006" "PRDM5_000040" "g.121742481T>C" "" "{PMID:Burkitt Wright 2011:21664999}" "" "" "" "Germline" "yes" "" "0" "" "" "g.120821326T>C" "" "pathogenic (recessive)" "" "0000960070" "3" "90" "4" "121698354" "121698364" "del" "0" "00006" "PRDM5_000035" "g.121698354_121698364del" "" "{PMID:Burkitt Wright 2011:21664999}" "" "" "1517_1527delTTCATATCCGG" "Germline" "yes" "" "0" "" "" "g.120777199_120777209del" "" "pathogenic (recessive)" "" "0000960071" "3" "90" "4" "121698354" "121698364" "del" "0" "00006" "PRDM5_000035" "g.121698354_121698364del" "" "{PMID:Burkitt Wright 2011:21664999}" "" "" "1517_1527delTTCATATCCGG" "Germline" "yes" "" "0" "" "" "g.120777199_120777209del" "" "pathogenic (recessive)" "" "0000960072" "3" "90" "4" "121738016" "121738019" "del" "0" "00006" "PRDM5_000038" "g.121738016_121738019del" "" "{PMID:Burkitt Wright 2011:21664999}" "" "" "711_714delTGTT" "Germline" "yes" "" "0" "" "" "g.120816861_120816864del" "" "pathogenic (recessive)" "" "0000960073" "3" "90" "4" "121720872" "121720872" "del" "8.15029E-6" "00006" "PRDM5_000004" "g.121720872del" "" "{PMID:Burkitt Wright 2011:21664999}" "" "" "974delG" "Germline" "yes" "" "0" "" "" "g.120799717del" "" "pathogenic (recessive)" "" "0000960074" "3" "90" "4" "121675707" "121720901" "del" "0" "00006" "PRDM5_000034" "g.(121664708_121675707)_(121720901_121732524)del" "" "{PMID:Burkitt Wright 2011:21664999}" "" "52.46kb deletion, not in 454 control chromosomes" "del ex9-14" "Germline" "yes" "" "0" "" "" "g.(120743553_120754552)_(120799746_120811369)del" "" "pathogenic (recessive)" "" "0000960075" "3" "90" "4" "121675707" "121720901" "del" "0" "00006" "PRDM5_000034" "g.(121664708_121675707)_(121720901_121732524)del" "" "{PMID:Burkitt Wright 2011:21664999}" "" "52.46kb deletion, not in 454 control chromosomes" "del ex9-14" "Germline" "yes" "" "0" "" "" "g.(120743553_120754552)_(120799746_120811369)del" "" "pathogenic (recessive)" "" "0000960076" "3" "90" "4" "121675707" "121720901" "del" "0" "00006" "PRDM5_000034" "g.(121664708_121675707)_(121720901_121732524)del" "" "{PMID:Burkitt Wright 2011:21664999}" "" "52.46kb deletion, not in 454 control chromosomes" "del ex9-14" "Germline" "yes" "" "0" "" "" "g.(120743553_120754552)_(120799746_120811369)del" "" "pathogenic (recessive)" "" "0000960077" "3" "90" "4" "121675707" "121720901" "del" "0" "00006" "PRDM5_000034" "g.(121664708_121675707)_(121720901_121732524)del" "" "{PMID:Burkitt Wright 2011:21664999}" "" "52.46kb deletion, not in 454 control chromosomes" "del ex9-14" "Germline" "yes" "" "0" "" "" "g.(120743553_120754552)_(120799746_120811369)del" "" "pathogenic (recessive)" "" "0000960078" "3" "90" "4" "121675707" "121720901" "del" "0" "00006" "PRDM5_000034" "g.(121664708_121675707)_(121720901_121732524)del" "" "{PMID:Burkitt Wright 2011:21664999}" "" "52.46kb deletion, not in 454 control chromosomes" "del ex9-14" "Germline" "yes" "" "0" "" "" "g.(120743553_120754552)_(120799746_120811369)del" "" "pathogenic (recessive)" "" "0000960079" "3" "90" "4" "121616391" "121616391" "subst" "0" "00006" "PRDM5_000033" "g.121616391G>A" "" "{PMID:Burkitt Wright 2011:21664999}" "" "" "" "Germline" "yes" "" "0" "" "" "g.120695236G>A" "" "pathogenic (recessive)" "" "0000960080" "3" "90" "4" "121616391" "121616391" "subst" "0" "00006" "PRDM5_000033" "g.121616391G>A" "" "{PMID:Burkitt Wright 2011:21664999}" "" "" "" "Germline" "yes" "" "0" "" "" "g.120695236G>A" "" "pathogenic (recessive)" "" "0000960081" "3" "90" "4" "121616391" "121616391" "subst" "0" "00006" "PRDM5_000033" "g.121616391G>A" "" "{PMID:Burkitt Wright 2011:21664999}" "" "" "" "Germline" "yes" "" "0" "" "" "g.120695236G>A" "" "pathogenic (recessive)" "" "0000960082" "1" "30" "4" "121742459" "121742459" "subst" "0.00076808" "00006" "PRDM5_000021" "g.121742459T>G" "1/401 control individuals" "{PMID:Burkitt Wright 2011:21664999}" "" "" "" "Germline" "" "" "0" "" "" "g.120821304T>G" "" "likely benign" "" "0000960083" "1" "30" "4" "121739667" "121739667" "subst" "0.0113445" "00006" "PRDM5_000017" "g.121739667T>A" "16/401 control individuals" "{PMID:Burkitt Wright 2011:21664999}" "" "" "" "Germline" "" "" "0" "" "" "g.120818512T>A" "" "likely benign" "" "0000960084" "1" "30" "4" "121739614" "121739614" "subst" "0.000247925" "00006" "PRDM5_000039" "g.121739614G>A" "1/401 control individuals" "{PMID:Burkitt Wright 2011:21664999}" "" "" "" "Germline" "" "" "0" "" "" "g.120818459G>A" "" "likely benign" "" "0000960085" "1" "30" "4" "121719544" "121719544" "subst" "0.0231277" "00006" "PRDM5_000008" "g.121719544A>T" "15/401 control individuals" "{PMID:Burkitt Wright 2011:21664999}" "" "" "" "Germline" "" "" "0" "" "" "g.120798389A>T" "" "likely benign" "" "0000960086" "1" "30" "4" "121719508" "121719508" "subst" "0" "00006" "PRDM5_000037" "g.121719508C>T" "1/401 control individuals" "{PMID:Burkitt Wright 2011:21664999}" "" "" "" "Germline" "" "" "0" "" "" "g.120798353C>T" "" "likely benign" "" "0000960087" "1" "30" "4" "121719497" "121719497" "subst" "0.000606302" "00006" "PRDM5_000036" "g.121719497G>T" "2/401 control individuals" "{PMID:Burkitt Wright 2011:21664999}" "" "" "" "Germline" "" "" "0" "" "" "g.120798342G>T" "" "likely benign" "" "0000960088" "3" "30" "4" "121739667" "121739667" "subst" "0.0113445" "00006" "PRDM5_000017" "g.121739667T>A" "1/401 control individuals" "{PMID:Burkitt Wright 2011:21664999}" "" "" "" "Germline" "" "" "0" "" "" "g.120818512T>A" "" "likely benign" "" "0000976091" "0" "30" "4" "121720919" "121720922" "del" "0" "02329" "PRDM5_000042" "g.121720919_121720922del" "" "" "" "PRDM5(NM_018699.4):c.946-20_946-17delGTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985973" "0" "70" "4" "121616280" "121616280" "subst" "0" "00006" "PRDM5_000043" "g.121616280C>T" "" "{PMID:Hall 2024:38050128}" "" "" "" "De novo" "" "" "0" "" "" "g.120695125C>T" "" "VUS" "" "0001034297" "0" "30" "4" "121738070" "121738070" "subst" "0.0243045" "01804" "PRDM5_000016" "g.121738070C>T" "" "" "" "PRDM5(NM_018699.4):c.660G>A (p.(Gln220=), p.Q220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045305" "3" "90" "4" "0" "0" "" "" "00006" "TRAPPC11_000000" "g.?" "" "{PMID:Alazami 2016:27023906}" "" "NM_018699.2:c.343+2T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0001048332" "3" "70" "4" "121843747" "121843747" "subst" "0" "00006" "PRDM5_000044" "g.121843747A>C" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.120922592A>C" "VCV000981042.1" "likely pathogenic" "" ## 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 PRDM5 ## Count = 59 "{{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}}" "0000066269" "00016776" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "" "0000066270" "00016776" "90" "400" "0" "400" "0" "c.400G>T" "r.0?" "p.(Glu134*)" "4" "0000080526" "00016776" "70" "93" "5" "93" "5" "c.93+5G>A" "r.0?" "p.0?" "1i" "0000234453" "00016776" "90" "974" "0" "974" "0" "c.974del" "r.(?)" "p.(Cys325Leufs*2)" "9" "0000234459" "00016776" "90" "93" "2" "93" "2" "c.93+2T>C" "r.0?" "p.?" "1i" "0000250092" "00016776" "10" "1234" "0" "1234" "0" "c.1234T>C" "r.(?)" "p.(Leu412=)" "" "0000250171" "00016776" "10" "1066" "0" "1066" "0" "c.1066T>A" "r.(?)" "p.(Ser356Thr)" "" "0000250426" "00016776" "30" "1031" "-15" "1031" "-15" "c.1031-15T>C" "r.(=)" "p.(=)" "" "0000299070" "00016776" "50" "1017" "0" "1017" "0" "c.1017G>A" "r.(?)" "p.(Met339Ile)" "" "0000299072" "00016776" "10" "1273" "0" "1273" "0" "c.1273A>G" "r.(?)" "p.(Ile425Val)" "" "0000299073" "00016776" "10" "491" "0" "491" "0" "c.491A>T" "r.(?)" "p.(Lys164Ile)" "" "0000299074" "00016776" "10" "660" "0" "660" "0" "c.660G>A" "r.(?)" "p.(Gln220=)" "" "0000299075" "00016776" "10" "681" "0" "681" "0" "c.681A>G" "r.(?)" "p.(Leu227=)" "" "0000299076" "00016776" "50" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Trp)" "" "0000299077" "00016776" "10" "849" "0" "849" "0" "c.849G>A" "r.(?)" "p.(Gln283=)" "" "0000299078" "00016776" "30" "866" "-20" "866" "-20" "c.866-20G>T" "r.(=)" "p.(=)" "" "0000521421" "00016776" "10" "1283" "-5" "1283" "-5" "c.1283-5C>T" "r.spl?" "p.?" "" "0000521422" "00016776" "50" "1241" "0" "1241" "0" "c.1241G>T" "r.(?)" "p.(Arg414Leu)" "" "0000521423" "00016776" "10" "1031" "-6" "1031" "-6" "c.1031-6dup" "r.(=)" "p.(=)" "" "0000521424" "00016776" "10" "342" "0" "342" "0" "c.342A>C" "r.(?)" "p.(Glu114Asp)" "" "0000521425" "00016776" "50" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Arg77Trp)" "" "0000521426" "00016776" "50" "128" "0" "128" "0" "c.128G>C" "r.(?)" "p.(Arg43Thr)" "" "0000609050" "00016776" "30" "1283" "-5" "1283" "-5" "c.1283-5C>T" "r.spl?" "p.?" "" "0000609051" "00016776" "30" "666" "0" "666" "0" "c.666A>T" "r.(?)" "p.(Thr222=)" "" "0000651386" "00016776" "50" "2013" "0" "2013" "0" "c.*120T>C" "r.(=)" "p.(=)" "" "0000655077" "00016776" "30" "1212" "0" "1212" "0" "c.1212C>T" "r.(?)" "p.(Phe404=)" "" "0000719722" "00016776" "30" "651" "-21" "651" "-20" "c.651-21_651-20del" "r.(=)" "p.(=)" "" "0000801483" "00016776" "30" "300" "17" "300" "17" "c.300+17C>T" "r.(=)" "p.(=)" "" "0000850515" "00016776" "30" "757" "0" "757" "0" "c.757C>A" "r.(?)" "p.(Gln253Lys)" "" "0000859218" "00016776" "50" "1633" "0" "1633" "0" "c.1633T>C" "r.(?)" "p.(Tyr545His)" "" "0000881173" "00016776" "90" "974" "0" "974" "0" "c.974del" "r.(?)" "p.(Cys325LeufsTer2)" "" "0000924050" "00016776" "30" "252" "0" "252" "0" "c.252C>T" "r.(?)" "p.(Phe84=)" "" "0000960067" "00016776" "90" "93" "1" "93" "1" "c.93+1G>A" "r.spl" "p.?" "" "0000960068" "00016776" "90" "320" "0" "320" "0" "c.320A>G" "r.(?)" "p.(Tyr107Cys)" "" "0000960069" "00016776" "90" "320" "0" "320" "0" "c.320A>G" "r.(?)" "p.(Tyr107Cys)" "" "0000960070" "00016776" "90" "1517" "0" "1527" "0" "c.1517_1527del" "r.(?)" "p.(Val506GlufsTer5)" "" "0000960071" "00016776" "90" "1517" "0" "1527" "0" "c.1517_1527del" "r.(?)" "p.(Val506GlufsTer5)" "" "0000960072" "00016776" "90" "713" "0" "716" "0" "c.713_716del" "r.(?)" "p.(Val238AlafsTer35)" "" "0000960073" "00016776" "90" "974" "0" "974" "0" "c.974del" "r.(?)" "p.(Cys325LeufsTer2)" "" "0000960074" "00016776" "90" "946" "-1" "1623" "1" "c.(945+1_946-1)_(1623+1_1623+11000)del" "r.(946_1623del)" "p.(Ile316_Arg541del)" "8i_14i" "0000960075" "00016776" "90" "946" "-1" "1623" "1" "c.(945+1_946-1)_(1623+1_1623+11000)del" "r.(946_1623del)" "p.(Ile316_Arg541del)" "8i_14i" "0000960076" "00016776" "90" "946" "-1" "1623" "1" "c.(945+1_946-1)_(1623+1_1623+11000)del" "r.(946_1623del)" "p.(Ile316_Arg541del)" "8i_14i" "0000960077" "00016776" "90" "946" "-1" "1623" "1" "c.(945+1_946-1)_(1623+1_1623+11000)del" "r.(946_1623del)" "p.(Ile316_Arg541del)" "8i_14i" "0000960078" "00016776" "90" "946" "-1" "1623" "1" "c.(945+1_946-1)_(1623+1_1623+11000)del" "r.(946_1623del)" "p.(Ile316_Arg541del)" "8i_14i" "0000960079" "00016776" "90" "1768" "0" "1768" "0" "c.1768C>T" "r.(?)" "p.(Arg590Ter)" "" "0000960080" "00016776" "90" "1768" "0" "1768" "0" "c.1768C>T" "r.(?)" "p.(Arg590Ter)" "" "0000960081" "00016776" "90" "1768" "0" "1768" "0" "c.1768C>T" "r.(?)" "p.(Arg590Ter)" "" "0000960082" "00016776" "30" "342" "0" "342" "0" "c.342A>C" "r.(?)" "p.(Glu114Asp)" "" "0000960083" "00016776" "30" "491" "0" "491" "0" "c.491A>T" "r.(?)" "p.(Lys164Ile)" "" "0000960084" "00016776" "30" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(Leu182Phe)" "" "0000960085" "00016776" "30" "1066" "0" "1066" "0" "c.1066T>A" "r.(?)" "p.(Ser356Thr)" "" "0000960086" "00016776" "30" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Val368Ile)" "" "0000960087" "00016776" "30" "1113" "0" "1113" "0" "c.1113C>A" "r.(?)" "p.(Ser371Arg)" "" "0000960088" "00016776" "30" "491" "0" "491" "0" "c.491A>T" "r.(?)" "p.(Lys164Ile)" "" "0000976091" "00016776" "30" "946" "-20" "946" "-17" "c.946-20_946-17del" "r.(=)" "p.(=)" "" "0000985973" "00016776" "70" "1879" "0" "1879" "0" "c.1879G>A" "r.(?)" "p.(Val627Ile)" "16" "0001034297" "00016776" "30" "660" "0" "660" "0" "c.660G>A" "r.(?)" "p.(Gln220=)" "" "0001045305" "00016776" "90" "0" "0" "0" "0" "c.?" "r.spl" "p.?" "" "0001048332" "00016776" "70" "17" "0" "17" "0" "c.17T>G" "r.(?)" "p.(Val6Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{variantid}}" "0000038615" "0000066269" "0000038616" "0000066270" "0000051475" "0000234453" "0000051477" "0000080526" "0000144050" "0000234459" "0000294697" "0000651386" "0000420814" "0000881173" "0000449633" "0000960067" "0000449634" "0000960068" "0000449635" "0000960069" "0000449636" "0000960070" "0000449637" "0000960071" "0000449638" "0000960072" "0000449639" "0000960073" "0000449640" "0000960074" "0000449641" "0000960075" "0000449642" "0000960076" "0000449643" "0000960077" "0000449644" "0000960078" "0000449645" "0000960079" "0000449646" "0000960080" "0000449647" "0000960081" "0000449648" "0000960082" "0000449649" "0000960083" "0000449650" "0000960084" "0000449651" "0000960085" "0000449652" "0000960086" "0000449653" "0000960087" "0000449654" "0000960088" "0000452014" "0000985973" "0000467493" "0001045305" "0000468498" "0001048332"