### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PDS5A) # 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}}" "PDS5A" "PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)" "4" "p14" "unknown" "NG_021172.1" "UD_132085379719" "" "https://www.LOVD.nl/PDS5A" "" "1" "29088" "23244" "613200" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PDS5A_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2010-03-01 00:00:00" "00006" "2018-08-22 08:40:11" "00000" "2024-04-19 20:27:30" ## 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}}" "00001431" "PDS5A" "transcript variant 1" "001" "NM_001100399.1" "" "NP_001093869.1" "" "" "" "-540" "6636" "4014" "39824483" "39979576" "00000" "2012-09-13 13:32:56" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04281" "CDLS" "Cornelia de Lange syndrome (CDLS)" "" "" "" "" "" "00006" "2015-06-15 14:50:45" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00179540" "" "" "" "14" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" "00179541" "" "" "" "85" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" "00179542" "" "" "" "62" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" "00179543" "" "" "" "3" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" "00179544" "" "" "" "18" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" "00179545" "" "" "" "18" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" "00179546" "" "" "" "1" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" "00179547" "" "" "" "1" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" "00179548" "" "" "" "3" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" "00179549" "" "" "" "1" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" "00179550" "" "" "" "1" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" "00179551" "" "" "" "1" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" "00436301" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "" "F" "" "" "" "0" "" "" "" "Pat13" "00438566" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0009" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00179540" "04281" "00179541" "04281" "00179542" "04281" "00179543" "04281" "00179544" "04281" "00179545" "04281" "00179546" "04281" "00179547" "04281" "00179548" "04281" "00179549" "04281" "00179550" "04281" "00179551" "04281" "00436301" "00198" "00438566" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 04281, 06906 ## Count = 3 "{{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}}" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000326481" "00198" "00436301" "00006" "Unknown" "2y6m" "no synophrys; depressed nasal bridge, high palate; developmental delay, intellectual disability; gastroesophageal reflux; failure to thrive; weight <2nd, length 3rd, OFC <2nd; short stature; microcephaly; motor delay; speech delay; no autism spectrum disorder; no seizures; hypertonia; no hypotonia; no brachycephaly; no ptosis; no hypertelorism; no anteverted nares; depressed/broad nasal bridge; no bulbous nasal tip; no low-set ears; no microtia; no dysmorphic ears; no long/smooth philtrum; high arched palate; no thin upper lip; no downturned mouth; no cleft lip/palate; no widely spaced teeth; no late-erupting teeth; no micrognathia; no short neck; no hypoplastic nails; no hirsutism; no hairline; no cutis marmorata; no strabismus; no hearing loss; no low-pitched, growling cry in infancy; no congenital heart defect; no congenital diaphragmatic hernia; no pulmonary hypoplasia; no recurrent infections; no small nipples; gastroesophageal reflux; no structural anomalies renal tract; no scoliosis; no rib fusion; no vertebral anomalies; no limited elbow extension; no radioulnar abnormalities; no micromelia; no phocomelia; no brachydactyly; no fifth finger clinodactyly; no single transverse palmar crease; no 2-3 toe syndactyly; MRI brain cerebellar tonsillar ectopy, o/w normal; ECG patent foramen ovale vs atrial septal defect;, o/w normal" "" "" "" "" "" "" "" "" "cohesinopathy" "" "" "0000328469" "06906" "00438566" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" ## 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}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000180443" "00179540" "1" "00006" "00006" "2010-04-09 14:18:57" "" "" "SEQ" "DNA" "" "" "0000180444" "00179541" "1" "00006" "00006" "2010-04-09 14:18:57" "" "" "SEQ" "DNA" "" "" "0000180445" "00179542" "1" "00006" "00006" "2010-04-09 14:18:57" "" "" "SEQ" "DNA" "" "" "0000180446" "00179543" "1" "00006" "00006" "2010-04-09 14:18:57" "" "" "SEQ" "DNA" "" "" "0000180447" "00179544" "1" "00006" "00006" "2010-04-09 14:18:57" "" "" "SEQ" "DNA" "" "" "0000180448" "00179545" "1" "00006" "00006" "2010-04-09 14:18:57" "" "" "SEQ" "DNA" "" "" "0000180449" "00179546" "1" "00006" "00006" "2010-04-09 14:18:57" "" "" "SEQ" "DNA" "" "" "0000180450" "00179547" "1" "00006" "00006" "2010-04-09 14:18:57" "" "" "SEQ" "DNA" "" "" "0000180451" "00179548" "1" "00006" "00006" "2010-04-09 14:18:57" "" "" "SEQ" "DNA" "" "" "0000180452" "00179549" "1" "00006" "00006" "2010-04-09 14:18:57" "" "" "SEQ" "DNA" "" "" "0000180453" "00179550" "1" "00006" "00006" "2010-04-09 14:18:57" "" "" "SEQ" "DNA" "" "" "0000180454" "00179551" "1" "00006" "00006" "2010-04-09 14:18:57" "" "" "SEQ" "DNA" "" "" "0000437784" "00436301" "1" "00006" "00006" "2023-08-31 23:02:18" "" "" "SEQ-NG" "DNA" "" "" "0000440048" "00438566" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000180443" "PDS5A" "0000180444" "PDS5A" "0000180445" "PDS5A" "0000180446" "PDS5A" "0000180447" "PDS5A" "0000180448" "PDS5A" "0000180449" "PDS5A" "0000180450" "PDS5A" "0000180451" "PDS5A" "0000180452" "PDS5A" "0000180453" "PDS5A" "0000180454" "PDS5A" ## 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 = 21 "{{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}}" "0000011960" "0" "30" "4" "39974809" "39974809" "subst" "0" "00037" "PDS5A_000014" "g.39974809T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.39973189T>C" "" "likely benign" "" "0000343776" "0" "50" "4" "39902120" "39902120" "subst" "0" "02327" "PDS5A_000016" "g.39902120T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39900500T>C" "" "VUS" "" "0000403927" "0" "10" "4" "39922042" "39922042" "subst" "0.0510815" "00006" "PDS5A_000002" "g.39922042A>C" "14/228" "{PMID:Zhang 2009:19412548}" "" "535-23T>G" "" "Germline" "" "" "0" "" "" "g.39920422A>C" "" "benign" "" "0000403928" "0" "10" "4" "39921942" "39921942" "subst" "0.409989" "00006" "PDS5A_000003" "g.39921942A>G" "85/228" "{PMID:Zhang 2009:19412548}" "" "612T>C" "" "Germline" "" "" "0" "" "" "g.39920322A>G" "" "benign" "" "0000403929" "0" "10" "4" "39915454" "39915454" "subst" "0" "00006" "PDS5A_000004" "g.39915454G>C" "62/228" "{PMID:Zhang 2009:19412548}" "" "757-108C>G" "" "Germline" "" "" "0" "" "" "g.39913834G>C" "" "benign" "" "0000403930" "0" "10" "4" "39904104" "39904104" "subst" "0.00191271" "00006" "PDS5A_000006" "g.39904104A>T" "3/228" "{PMID:Zhang 2009:19412548}" "" "1266-24T>A" "" "Germline" "" "" "0" "" "" "g.39902484A>T" "" "benign" "" "0000403931" "0" "10" "4" "39903924" "39903924" "subst" "0.0786004" "00006" "PDS5A_000007" "g.39903924G>A" "18/228" "{PMID:Zhang 2009:19412548}" "" "1379+43C>T" "" "Germline" "" "" "0" "" "" "g.39902304G>A" "" "benign" "" "0000403932" "0" "10" "4" "39875874" "39875874" "subst" "0.0496199" "00006" "PDS5A_000005" "g.39875874G>A" "18/228" "{PMID:Zhang 2009:19412548}" "" "2157+35C>T" "" "Germline" "" "" "0" "" "" "g.39874254G>A" "" "benign" "" "0000403933" "0" "10" "4" "39864688" "39864688" "subst" "5.29277E-5" "00006" "PDS5A_000008" "g.39864688C>T" "1/228" "{PMID:Zhang 2009:19412548}" "" "2652G>A" "" "Germline" "" "" "0" "" "" "g.39863068C>T" "" "benign" "" "0000403934" "0" "10" "4" "39850578" "39850578" "subst" "3.91908E-5" "00006" "PDS5A_000009" "g.39850578C>T" "1/228" "{PMID:Zhang 2009:19412548}" "" "3112G>A" "" "Germline" "" "" "0" "" "" "g.39848958C>T" "" "benign" "" "0000403935" "0" "10" "4" "39850444" "39850444" "subst" "0" "00006" "PDS5A_000010" "g.39850444T>C" "3/228" "{PMID:Zhang 2009:19412548}" "" "3219+27A>G" "" "Germline" "" "" "0" "" "" "g.39848824T>C" "" "benign" "" "0000403936" "0" "10" "4" "39846475" "39846475" "subst" "0" "00006" "PDS5A_000011" "g.39846475T>C" "1/228" "{PMID:Zhang 2009:19412548}" "" "3283-54A>G" "" "Germline" "" "" "0" "" "" "g.39844855T>C" "" "benign" "" "0000403937" "0" "10" "4" "39827128" "39827128" "subst" "0.00243748" "00006" "PDS5A_000012" "g.39827128C>T" "1/228" "{PMID:Zhang 2009:19412548}" "" "3891-20G>A" "" "Germline" "" "" "0" "" "" "g.39825508C>T" "" "benign" "" "0000403938" "0" "10" "4" "39826901" "39826901" "subst" "0" "00006" "PDS5A_000013" "g.39826901C>G" "1/228" "{PMID:Zhang 2009:19412548}" "" "*204G>C" "" "Germline" "" "" "0" "" "" "g.39825281C>G" "" "benign" "" "0000403960" "0" "10" "4" "39978005" "39978005" "subst" "0" "00006" "PDS5A_000017" "g.39978005A>G" "" "" "" "18+55T>C" "" "Germline" "" "rs35426579" "0" "" "" "g.39976385A>G" "" "benign" "" "0000403961" "0" "10" "4" "39922042" "39922042" "subst" "0.0510815" "00006" "PDS5A_000002" "g.39922042A>C" "" "" "" "535-23T>G" "" "Germline" "" "rs28419175" "0" "" "" "g.39920422A>C" "" "benign" "" "0000403962" "0" "10" "4" "39921942" "39921942" "subst" "0.409989" "00006" "PDS5A_000003" "g.39921942A>G" "" "" "" "612T>C" "" "Germline" "" "rs28449663" "0" "" "" "g.39920322A>G" "" "benign" "" "0000403963" "0" "10" "4" "39915454" "39915454" "subst" "0" "00006" "PDS5A_000004" "g.39915454G>C" "" "" "" "757-108C>G" "" "Germline" "" "rs11725674" "0" "" "" "g.39913834G>C" "" "benign" "" "0000403964" "0" "10" "4" "39875874" "39875874" "subst" "0.0496199" "00006" "PDS5A_000005" "g.39875874G>A" "" "" "" "2157+35C>T" "" "Germline" "" "rs28546862" "0" "" "" "g.39874254G>A" "" "benign" "" "0000933200" "0" "90" "4" "39875911" "39875911" "subst" "0" "00006" "PDS5A_000020" "g.39875911C>A" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.39874291C>A" "" "pathogenic (dominant)" "" "0000936206" "0" "50" "4" "39868539" "39868539" "subst" "0" "00006" "PDS5A_000021" "g.39868539G>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_001100399:c.C2584T (R862W)" "" "De novo" "" "" "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 PDS5A ## Count = 21 "{{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}}" "0000011960" "00001431" "30" "138" "3251" "138" "3251" "c.138+3251A>G" "r.(?)" "p.(=)" "2i" "0000343776" "00001431" "50" "1507" "0" "1507" "0" "c.1507A>G" "r.(?)" "p.(Asn503Asp)" "" "0000403927" "00001431" "10" "655" "-23" "655" "-23" "c.655-23T>G" "r.(?)" "p.(=)" "6i" "0000403928" "00001431" "10" "732" "0" "732" "0" "c.732T>C" "r.(?)" "p.(=)" "7" "0000403929" "00001431" "10" "877" "-108" "877" "-108" "c.877-108C>G" "r.(?)" "p.(=)" "8i" "0000403930" "00001431" "10" "1386" "-24" "1386" "-24" "c.1386-24T>A" "r.(?)" "p.(=)" "12i" "0000403931" "00001431" "10" "1499" "43" "1499" "43" "c.1499+43C>T" "r.(?)" "p.(=)" "13i" "0000403932" "00001431" "10" "2277" "35" "2277" "35" "c.2277+35C>T" "r.(?)" "p.(=)" "20i" "0000403933" "00001431" "10" "2772" "0" "2772" "0" "c.2772G>A" "r.(?)" "p.(=)" "25" "0000403934" "00001431" "10" "3232" "0" "3232" "0" "c.3232G>A" "r.(?)" "p.(Val1038Ile)" "28" "0000403935" "00001431" "10" "3339" "27" "3339" "27" "c.3339+27A>G" "r.(?)" "p.(=)" "28i" "0000403936" "00001431" "10" "3403" "-54" "3403" "-54" "c.3403-54A>G" "r.(?)" "p.(=)" "29i" "0000403937" "00001431" "10" "4011" "-20" "4011" "-20" "c.4011-20G>A" "r.(?)" "p.(=)" "32i" "0000403938" "00001431" "10" "4218" "0" "4218" "0" "c.*204G>C" "r.(?)" "p.(=)" "33" "0000403960" "00001431" "10" "138" "55" "138" "55" "c.138+55T>C" "r.(?)" "p.(=)" "2i" "0000403961" "00001431" "10" "655" "-23" "655" "-23" "c.655-23T>G" "r.(?)" "p.(=)" "6i" "0000403962" "00001431" "10" "732" "0" "732" "0" "c.732T>C" "r.(?)" "p.(=)" "7" "0000403963" "00001431" "10" "877" "-108" "877" "-108" "c.877-108C>G" "r.(?)" "p.(=)" "8i" "0000403964" "00001431" "10" "2277" "35" "2277" "35" "c.2277+35C>T" "r.(?)" "p.(=)" "20i" "0000933200" "00001431" "90" "2275" "0" "2275" "0" "c.2275G>T" "r.(?)" "p.(Glu759*)" "" "0000936206" "00001431" "50" "2584" "0" "2584" "0" "c.2584C>T" "r.(?)" "p.(Arg862Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000000210" "0000011960" "0000180443" "0000403927" "0000180444" "0000403928" "0000180445" "0000403929" "0000180446" "0000403930" "0000180447" "0000403931" "0000180448" "0000403932" "0000180449" "0000403933" "0000180450" "0000403934" "0000180451" "0000403935" "0000180452" "0000403936" "0000180453" "0000403937" "0000180454" "0000403938" "0000437784" "0000933200" "0000440048" "0000936206"