### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PLAG1) # 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}}" "PLAG1" "pleiomorphic adenoma gene 1" "8" "q12" "unknown" "NG_023310.1" "UD_132118461603" "" "https://www.LOVD.nl/PLAG1" "" "1" "9045" "5324" "603026" "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/PLAG1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-08-14 13:21:06" "00000" "2025-05-05 21:14:00" ## 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}}" "00016287" "PLAG1" "transcript variant 1" "003" "NM_002655.2" "" "NP_002646.2" "" "" "" "-501" "6837" "1503" "57123859" "57073468" "" "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}}" "00232" "SRS;RSS" "Silver-Russell syndrome (SRS, Russell-Silver syndrome (RSS))" "AD" "180860" "" "" "" "00006" "2013-10-09 19:30:21" "00006" "2021-12-10 21:51:32" "01551" "SGPA" "adenoma, salivary gland, pleomorphic, somatic" "" "181030" "" "" "" "00006" "2014-09-25 23:29:40" "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 = 2 "{{geneid}}" "{{diseaseid}}" "PLAG1" "00232" "PLAG1" "01551" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00117200" "" "" "" "3" "" "01594" "{PMID:Abi Habib 2017:28796236}, for EUCID-SRS consortium" "2-generation family, 3 affecteds, mother PatI2" "F" "" "" "" "0" "" "" "" "28796236-FamPatI2" "00117201" "" "" "00117200" "1" "" "01594" "{PMID:Abi Habib 2017:28796236}, for EUCID-SRS consortium" "" "" "" "" "" "0" "" "" "" "28796236-FamPatII1" "00117202" "" "" "00117200" "1" "" "01594" "{PMID:Abi Habib 2017:28796236}, for EUCID-SRS consortium" "" "" "" "" "" "0" "" "" "" "28796236-PatII2" "00438715" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0780" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00117200" "00232" "00117201" "00232" "00117202" "00232" "00438715" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00232, 01551, 06906 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Head/Microcephaly}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Feeding/Problems}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Intrauterine_growth_retardation/HPO/0001511}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Growth/Retardation/Postnatal/HPO_0008897}}" "{{Phenotype/Asymmetry/Body}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000092446" "00232" "00117200" "01594" "Unknown" "" "prominent forehead (HP:0011220)" "" "nr" "" "nr" "" "" "" "small" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "SRS n/a (Netchine Harbison-Score 3/4)" "" "0000092447" "00232" "00117201" "01594" "Unknown" "" "see paper; ..., no prominent forehead (-HP:0011220)" "" "no macrocephaly congenital" "" "feeding problems" "" "" "" "small" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "unlikely SRS (Netchine Harbison-Score 3/6)" "" "0000092448" "00232" "00117202" "01594" "Unknown" "" "prominent forehead (HP:0011220)" "" "no macrocephaly congenital" "" "feeding problems" "" "" "" "small" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "unlikely SRS (Netchine Harbison-Score 4/6)" "SRS" "0000328618" "06906" "00438715" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000117661" "00117200" "1" "01594" "00006" "2017-08-14 13:21:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000117662" "00117201" "1" "01594" "00006" "2017-08-14 13:25:48" "" "" "SEQ" "DNA" "" "" "0000117663" "00117202" "1" "01594" "00006" "2017-08-14 13:29:09" "" "" "SEQ" "DNA" "" "" "0000440197" "00438715" "1" "00006" "00006" "2023-10-21 19:20:17" "00006" "2023-10-21 22:17:41" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000117661" "PLAG1" "0000117662" "PLAG1" "0000117663" "PLAG1" ## 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 = 14 "{{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}}" "0000188628" "0" "90" "8" "57079867" "57079867" "del" "0" "01594" "PLAG1_000001" "g.57079867del" "" "{PMID:Abi Habib 2017:28796236}, for EUCID-SRS consortium" "" "" "" "Germline" "" "" "0" "" "" "g.56167308del" "" "pathogenic" "" "0000188629" "21" "90" "8" "57079867" "57079867" "del" "0" "01594" "PLAG1_000001" "g.57079867del" "" "{PMID:Abi Habib 2017:28796236}, for EUCID-SRS consortium" "" "" "" "Germline" "" "" "0" "" "" "g.56167308del" "" "pathogenic" "" "0000188630" "21" "90" "8" "57079867" "57079867" "del" "0" "01594" "PLAG1_000001" "g.57079867del" "" "{PMID:Abi Habib 2017:28796236}, for EUCID-SRS consortium" "" "" "" "Germline" "" "" "0" "" "" "g.56167308del" "" "pathogenic" "" "0000803682" "0" "90" "8" "57079581" "57079581" "del" "0" "01943" "PLAG1_000002" "g.57079581del" "" "" "" "PLAG1(NM_002655.2):c.725delA (p.K242Rfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000829757" "0" "50" "8" "57080958" "57080958" "del" "0" "03779" "PLAG1_000003" "g.57080958del" "" "" "" "" "" "CLASSIFICATION record" "" "rs1023307529" "0" "" "" "" "" "VUS" "" "0000888386" "0" "70" "8" "57079992" "57079992" "del" "0" "02327" "PLAG1_000004" "g.57079992del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000924884" "0" "50" "8" "57079652" "57079652" "subst" "0" "02327" "PLAG1_000005" "g.57079652C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929459" "0" "50" "8" "57079417" "57079417" "subst" "0" "02327" "PLAG1_000006" "g.57079417C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000936485" "0" "50" "8" "57079694" "57079694" "subst" "0" "00006" "PLAG1_000007" "g.57079694A>G" "" "{PMID:Hamdan 2017:29100083}" "" "NM_002655:c.T611C (M204T)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000954005" "0" "50" "8" "57080051" "57080051" "subst" "0" "03779" "PLAG1_000008" "g.57080051G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000997228" "0" "50" "8" "57079199" "57079199" "subst" "8.12519E-6" "01804" "PLAG1_000009" "g.57079199G>T" "" "" "" "PLAG1(NM_002655.2):c.1106C>A (p.(Ser369Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997229" "0" "50" "8" "57080722" "57080722" "subst" "0" "01804" "PLAG1_000010" "g.57080722C>A" "" "" "" "PLAG1(NM_001114634.1):c.107G>T (p.(Cys36Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036993" "0" "50" "8" "57078824" "57078824" "subst" "4.32231E-6" "01804" "PLAG1_000011" "g.57078824C>T" "" "" "" "PLAG1(NM_002655.3):c.1481G>A (p.(Arg494His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036994" "0" "50" "8" "57079092" "57079092" "subst" "4.06392E-5" "01804" "PLAG1_000012" "g.57079092T>C" "" "" "" "PLAG1(NM_002655.3):c.1213A>G (p.(Ile405Val))" "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 PLAG1 ## Count = 14 "{{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}}" "0000188628" "00016287" "90" "439" "0" "439" "0" "c.439del" "r.(?)" "p.(Ser147Valfs*82)" "5" "0000188629" "00016287" "90" "439" "0" "439" "0" "c.439del" "r.(?)" "p.(Ser147Valfs*82)" "5" "0000188630" "00016287" "90" "439" "0" "439" "0" "c.439del" "r.(?)" "p.(Ser147Valfs*82)" "5" "0000803682" "00016287" "90" "725" "0" "725" "0" "c.725del" "r.(?)" "p.(Lys242Argfs*21)" "" "0000829757" "00016287" "50" "-117" "-5" "-117" "-5" "c.-117-5del" "r.(?)" "p.(?)" "" "0000888386" "00016287" "70" "313" "0" "313" "0" "c.313del" "r.(?)" "p.(Asp105Ilefs*3)" "" "0000924884" "00016287" "50" "653" "0" "653" "0" "c.653G>T" "r.(?)" "p.(Cys218Phe)" "" "0000929459" "00016287" "50" "888" "0" "888" "0" "c.888G>C" "r.(?)" "p.(Gln296His)" "" "0000936485" "00016287" "50" "611" "0" "611" "0" "c.611T>C" "r.(?)" "p.(Met204Thr)" "" "0000954005" "00016287" "50" "254" "0" "254" "0" "c.254C>T" "r.(?)" "p.(Thr85Ile)" "" "0000997228" "00016287" "50" "1106" "0" "1106" "0" "c.1106C>A" "r.(?)" "p.(Ser369Tyr)" "" "0000997229" "00016287" "50" "107" "0" "107" "0" "c.107G>T" "r.(?)" "p.(Cys36Phe)" "" "0001036993" "00016287" "50" "1481" "0" "1481" "0" "c.1481G>A" "r.(?)" "p.(Arg494His)" "" "0001036994" "00016287" "50" "1213" "0" "1213" "0" "c.1213A>G" "r.(?)" "p.(Ile405Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000117661" "0000188628" "0000117662" "0000188629" "0000117663" "0000188630" "0000440197" "0000936485"