### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PASK) # 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}}" "PASK" "PAS domain containing serine/threonine kinase" "2" "q37.3" "unknown" "NG_052850.1" "UD_134712047177" "" "https://www.LOVD.nl/PASK" "" "1" "17270" "23178" "607505" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-09-13 13:04:38" "00000" "2020-06-12 10:37:55" ## 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}}" "00015694" "PASK" "transcript variant 2" "003" "NM_015148.3" "" "NP_055963.2" "" "" "" "-133" "4439" "3972" "242088919" "242045514" "" "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}}" "04240" "EVR;FEVR" "vitreoretinopathy, exudative (EVR; familial FVER))" "" "" "" "" "" "00006" "2015-04-10 12:38:11" "00006" "2019-07-31 13:55:30" "05075" "EVR6" "vitreoretinopathy, exudative, type 6 (EVR-6)" "AD" "616468" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2021-12-10 21:51:32" "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 = 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}}" "00263971" "" "" "" "12" "" "03383" "{PMID:Collin 2013:23716654}" "5-generation family, 12 affected" "M" "no" "Netherlands" "" "0" "" "diathermy" "" "W05-215 III:5" "00263981" "" "" "00263971" "1" "" "03383" "{PMID:Collin 2013:23716654}" "PatV2" "F" "no" "Netherlands" "" "0" "" "" "" "W05-215 V:2" "00438658" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0461" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00263971" "04240" "00263971" "05075" "00263981" "04240" "00263981" "05075" "00438658" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04240, 05075, 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/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000201838" "04240" "00263971" "03383" "Familial, autosomal dominant" "47y" "familial exudative vitreoretinopathy (HP:0030490), left eye retinal detachment (HP:0000541)," "20y" "" "retinal detachment (HP:0000541)" "" "" "" "" "exudative vitreoretinopathy type 6 (EVR-6; familial)" "familial exudative vitreoretinopathy" "0000201839" "04240" "00263981" "03383" "Familial, autosomal dominant" "15y" "familial exudative vitreoretinopathy (HP:0030490), left eye falciform retinal fold (HP:0001493)" "" "03y" "" "" "" "" "" "exudative vitreoretinopathy type 6 (EVR-6; familial)" "familial exudative vitreoretinopathy" "0000328561" "06906" "00438658" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" ## 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}}" "0000265093" "00263971" "1" "03383" "03383" "2019-09-04 11:19:30" "" "" "SEQ-NG-S" "DNA" "peripheral blood lymphocytes" "1.22% of human genome (exome sequencing using SureSelect Human Exome Enrichment Kit V1)" "0000265095" "00263981" "1" "03383" "03383" "2019-09-04 14:30:33" "" "" "SEQ-NG-S" "DNA" "peripheral blood lymphocytes" "exome sequencing" "0000440140" "00438658" "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 = 2 "{{screeningid}}" "{{geneid}}" "0000265095" "PASK" "0000265095" "ZNF408" ## 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 = 6 "{{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}}" "0000341726" "0" "50" "2" "242054463" "242054463" "subst" "4.06105E-6" "02327" "PASK_000001" "g.242054463G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241115048G>A" "" "VUS" "" "0000595677" "10" "90" "2" "242077453" "242077453" "dup" "0" "03383" "PASK_000002" "g.242077453dup" "" "{PMID:Collins 2013:23716654}" "" "" "not in 220 control alleles tested; variant not associated with disease phenotype" "Germline" "yes" "" "0" "" "" "g.241138038dup" "" "VUS (!)" "" "0000595750" "11" "90" "2" "242077453" "242077453" "dup" "0" "03383" "PASK_000002" "g.242077453dup" "" "{PMID:Collins 2013:23716654}" "" "" "not in 220 control alleles; variant not associated with phenotype" "Germline" "yes" "" "0" "" "" "g.241138038dup" "" "VUS (!)" "" "0000936298" "0" "10" "2" "242054727" "242054727" "subst" "0" "00006" "PASK_000003" "g.242054727C>T" "" "{PMID:Hamdan 2017:29100083}" "" "NM_015148:c.G3174A (R1058R)" "" "De novo" "" "" "0" "" "" "" "" "benign" "" "0000992747" "0" "50" "2" "242047704" "242047704" "subst" "6.09414E-5" "01804" "PASK_000004" "g.242047704G>A" "" "" "" "PASK(NM_015148.3):c.3545C>T (p.(Pro1182Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992748" "0" "50" "2" "242066292" "242066292" "subst" "4.07375E-6" "01804" "PASK_000005" "g.242066292C>T" "" "" "" "PASK(NM_015148.3):c.2038G>A (p.(Ala680Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 PASK ## Count = 6 "{{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}}" "0000341726" "00015694" "50" "3328" "0" "3328" "0" "c.3328C>T" "r.(?)" "p.(Arg1110Ter)" "" "0000595677" "00015694" "90" "791" "0" "791" "0" "c.791dup" "r.(?)" "p.(Ser265Valfs*64)" "6" "0000595750" "00015694" "90" "791" "0" "791" "0" "c.791dup" "r.(?)" "p.(Ser265Valfs*64)" "6" "0000936298" "00015694" "10" "3174" "0" "3174" "0" "c.3174G>A" "r.(=)" "p.(=)" "" "0000992747" "00015694" "50" "3545" "0" "3545" "0" "c.3545C>T" "r.(?)" "p.(Pro1182Leu)" "" "0000992748" "00015694" "50" "2038" "0" "2038" "0" "c.2038G>A" "r.(?)" "p.(Ala680Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000265093" "0000595677" "0000265095" "0000595750" "0000440140" "0000936298"