### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PDE2A) # 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}}" "PDE2A" "phosphodiesterase 2A, cGMP-stimulated" "11" "q13.1-q14.1" "unknown" "NC_000011.9" "UD_136018695721" "" "https://www.LOVD.nl/PDE2A" "" "1" "8777" "5138" "602658" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PDE2A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-09-10 12:16:36" "00000" "2026-03-03 15:04:03" ## 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}}" "00015874" "PDE2A" "transcript variant 1" "001" "NM_002599.4" "" "NP_002590.1" "" "" "" "-246" "4070" "2826" "72385497" "72287184" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05335" "PNKD" "dyskinesia, nonkinesigenic, paroxysmal (PNKD)" "" "" "" "" "" "00006" "2017-10-23 16:22:11" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00264034" "" "" "" "1" "" "03418" "" "" "M" "no" "France" "" "0" "" "" "" "" "00295509" "" "" "" "1" "" "03418" "" "" "F" "yes" "Morocco" "09y" "0" "" "" "" "" "00295764" "" "" "" "1" "" "03418" "" "" "M" "yes" "Morocco" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00264034" "00198" "00295509" "05335" "00295764" "04270" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04270, 05335 ## 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}}" "0000210291" "00198" "00264034" "03418" "Complex" "" "paroxysmal dyskinesia (HP:0007166), intellectual disability moderate (HP:0001256), interictal EEG abnormallity (HP:0025373), normal MRI" "" "" "" "" "" "" "" "" "" "" "" "0000223080" "05335" "00295509" "03418" "Familial, autosomal recessive" "07y" "chorea\r\ngeneralized hypotonia\r\nmoderate intellectual disability \r\ninterictal EEG abnormality\r\nEEG abnormality" "02y05m" "" "" "" "" "" "" "" "" "" "" "0000223283" "04270" "00295764" "03418" "Familial, autosomal recessive" "00y12m" "epileptic spasms \r\nright frontal seizure\r\ntruncal hypotonia" "00y07m" "00y12m" "epileptic spasms" "" "" "" "" "" "" "epileptic spasms" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000265156" "00264034" "1" "03418" "03418" "2019-09-06 09:40:46" "" "" "SEQ-NG" "DNA" "" "" "0000296677" "00295509" "1" "03418" "03418" "2020-03-12 16:03:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000296938" "00295764" "1" "03418" "03418" "2020-03-26 14:47:46" "00006" "2020-03-28 03:47:36" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000296677" "PDE2A" "0000296938" "PDE2A" ## 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 = 8 "{{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}}" "0000595732" "21" "70" "11" "72307680" "72307680" "subst" "0" "03418" "PDE2A_000002" "g.72307680G>A" "" "" "" "419C>T (Pro140Leu)" "" "Germline" "" "" "0" "" "" "g.72596636G>A" "" "pathogenic (recessive)" "" "0000595733" "11" "70" "11" "72292916" "72292916" "subst" "0" "03418" "PDE2A_000001" "g.72292916C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.72581872C>T" "" "pathogenic (recessive)" "" "0000653370" "3" "90" "11" "72297116" "72297116" "subst" "0" "03418" "PDE2A_000003" "g.72297116G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.72586072G>A" "" "pathogenic (recessive)" "" "0000659590" "3" "90" "11" "72297116" "72297116" "subst" "0" "03418" "PDE2A_000003" "g.72297116G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.72586072G>A" "" "pathogenic (recessive)" "" "0000979877" "0" "50" "11" "72295629" "72295629" "subst" "5.76982E-5" "01804" "PDE2A_000004" "g.72295629G>A" "" "" "" "PDE2A(NM_002599.5):c.1503C>T (p.(Asn501=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999459" "0" "30" "11" "72297209" "72297209" "subst" "0.000655749" "01804" "PDE2A_000005" "g.72297209C>T" "" "" "" "PDE2A(NM_002599.4):c.1087G>A (p.(Glu363Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001065542" "0" "30" "11" "72307673" "72307673" "subst" "3.0848E-5" "02325" "PDE2A_000006" "g.72307673C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001068933" "0" "50" "11" "72293490" "72293490" "subst" "0.000244031" "03779" "PDE2A_000007" "g.72293490T>C" "" "" "" "" "" "Unknown" "" "rs117468012" "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 PDE2A ## Count = 8 "{{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}}" "0000595732" "00015874" "70" "446" "0" "446" "0" "c.446C>T" "r.(?)" "p.(Pro149Leu)" "" "0000595733" "00015874" "70" "1922" "5" "1922" "5" "c.1922+5G>A" "r.spl?" "p.?" "" "0000653370" "00015874" "90" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Gln394*)" "" "0000659590" "00015874" "90" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Gln394*)" "" "0000979877" "00015874" "50" "1503" "0" "1503" "0" "c.1503C>T" "r.(?)" "p.(=)" "" "0000999459" "00015874" "30" "1087" "0" "1087" "0" "c.1087G>A" "r.(?)" "p.(Glu363Lys)" "" "0001065542" "00015874" "30" "453" "0" "453" "0" "c.453G>A" "r.(?)" "p.(=)" "" "0001068933" "00015874" "50" "1849" "0" "1849" "0" "c.1849A>G" "r.(?)" "p.(Met617Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000265156" "0000595732" "0000265156" "0000595733" "0000296677" "0000653370" "0000296938" "0000659590"