### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PER2) # 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}}" "PER2" "period circadian clock 2" "2" "q37.3" "unknown" "NG_012146.1" "UD_132084394385" "" "https://www.LOVD.nl/PER2" "" "1" "8846" "8864" "603426" "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/PER2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-02-18 08:01:16" "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}}" "00015975" "PER2" "period homolog 2 (Drosophila)" "001" "NM_022817.2" "" "NP_073728.1" "" "" "" "-237" "6105" "3768" "239197207" "239152679" "" "0000-00-00 00:00:00" "" "" ## 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" "02498" "FASPS" "sleep phase syndrome, advanced, familial" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-11-04 08:55:55" "05672" "FASPS1" "sleep phase syndrome, advanced, familial, type 1 (FASPS1)" "AD" "604348" "" "" "" "00006" "2019-11-04 08:51:33" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PER2" "02498" "PER2" "05672" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00292657" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00438616" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0089" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00292657" "00198" "00438616" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02498, 05672, 06906 ## Count = 1 "{{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}}" "0000328519" "06906" "00438616" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000293825" "00292657" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000440098" "00438616" "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 = 0 ## 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 = 13 "{{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}}" "0000305454" "0" "50" "2" "239161563" "239161563" "subst" "2.45741E-5" "01943" "PER2_000001" "g.239161563G>A" "" "" "" "PER2(NM_022817.2):c.3101C>T (p.A1034V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.238252922G>A" "" "VUS" "" "0000328233" "0" "50" "2" "239148140" "239148140" "subst" "0.000517258" "01804" "HES6_000001" "g.239148140C>T" "" "" "" "HES6(NM_001142853.1):c.232G>A (p.(Gly78Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.238239499C>T" "" "VUS" "" "0000515267" "0" "50" "2" "239169585" "239169585" "subst" "0.00183297" "01943" "PER2_000003" "g.239169585G>T" "" "" "" "PER2(NM_022817.2):c.1426C>A (p.H476N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.238260944G>T" "" "VUS" "" "0000650514" "1" "30" "2" "239160264" "239160264" "subst" "0.000706817" "03575" "PER2_000004" "g.239160264A>G" "4/2784 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs138750527}" "Germline" "" "rs138750527" "0" "" "" "g.238251623A>G" "" "likely benign" "" "0000849804" "0" "30" "2" "239161685" "239161685" "subst" "0.000378378" "01943" "PER2_000005" "g.239161685C>T" "" "" "" "PER2(NM_022817.2):c.2979G>A (p.L993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849805" "0" "50" "2" "239164504" "239164504" "subst" "0.000820365" "01943" "PER2_000006" "g.239164504G>A" "" "" "" "PER2(NM_022817.2):c.2114C>T (p.A705V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000936256" "0" "50" "2" "239186523" "239186523" "subst" "0" "00006" "PER2_000007" "g.239186523C>T" "" "{PMID:Hamdan 2017:29100083}" "" "NM_022817:c.G55A (V19M)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000992710" "0" "30" "2" "239159239" "239159239" "subst" "0.000199242" "01804" "PER2_000008" "g.239159239C>A" "" "" "" "PER2(NM_022817.2):c.3420G>T (p.(Met1140Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992711" "0" "30" "2" "239161809" "239161809" "subst" "0.000242384" "01804" "PER2_000009" "g.239161809C>T" "" "" "" "PER2(NM_022817.2):c.2855G>A (p.(Arg952Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992712" "0" "30" "2" "239161854" "239161854" "subst" "0" "01804" "PER2_000010" "g.239161854A>T" "" "" "" "PER2(NM_022817.2):c.2810T>A (p.(Leu937His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992713" "0" "30" "2" "239165697" "239165697" "subst" "4.07647E-5" "01804" "PER2_000011" "g.239165697C>T" "" "" "" "PER2(NM_022817.2):c.1931G>A (p.(Arg644His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033156" "0" "50" "2" "239168625" "239168625" "dup" "0" "01804" "PER2_000012" "g.239168625dup" "" "" "" "PER2(NM_022817.3):c.1617dup (p.(Ser540Ilefs*8))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051153" "0" "30" "2" "239161552" "239161552" "subst" "1.22996E-5" "01804" "PER2_000013" "g.239161552C>T" "" "" "" "PER2(NM_022817.3):c.3111+1G>A" "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 PER2 ## Count = 13 "{{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}}" "0000305454" "00015975" "50" "3101" "0" "3101" "0" "c.3101C>T" "r.(?)" "p.(Ala1034Val)" "" "0000328233" "00015975" "50" "10644" "0" "10644" "0" "c.*6876G>A" "r.(=)" "p.(=)" "" "0000515267" "00015975" "50" "1426" "0" "1426" "0" "c.1426C>A" "r.(?)" "p.(His476Asn)" "" "0000650514" "00015975" "30" "3250" "0" "3250" "0" "c.3250T>C" "r.(?)" "p.(Cys1084Arg)" "" "0000849804" "00015975" "30" "2979" "0" "2979" "0" "c.2979G>A" "r.(?)" "p.(Leu993=)" "" "0000849805" "00015975" "50" "2114" "0" "2114" "0" "c.2114C>T" "r.(?)" "p.(Ala705Val)" "" "0000936256" "00015975" "50" "55" "0" "55" "0" "c.55G>A" "r.(?)" "p.(Val19Met)" "" "0000992710" "00015975" "30" "3420" "0" "3420" "0" "c.3420G>T" "r.(?)" "p.(Met1140Ile)" "" "0000992711" "00015975" "30" "2855" "0" "2855" "0" "c.2855G>A" "r.(?)" "p.(Arg952Gln)" "" "0000992712" "00015975" "30" "2810" "0" "2810" "0" "c.2810T>A" "r.(?)" "p.(Leu937His)" "" "0000992713" "00015975" "30" "1931" "0" "1931" "0" "c.1931G>A" "r.(?)" "p.(Arg644His)" "" "0001033156" "00015975" "50" "1617" "0" "1617" "0" "c.1617dup" "r.(?)" "p.(Ser540Ilefs*8)" "" "0001051153" "00015975" "30" "3111" "1" "3111" "1" "c.3111+1G>A" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000293825" "0000650514" "0000440098" "0000936256"