### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PLIN4) # 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}}" "PLIN4" "perilipin 4" "19" "p13.3" "unknown" "NC_000019.9" "UD_136017602022" "" "https://www.LOVD.nl/PLIN4" "" "1" "29393" "729359" "613247" "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" "2025-01-27 15:20:26" "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}}" "00025716" "PLIN4" "transcript variant 4 (removed from reference sequence) (removed from reference sequence)" "000" "NM_001367868.2" "" "NP_001354797.1" "" "" "" "-119" "6383" "4116" "1" "1" "00001" "2022-06-29 15:14:24" "" "" ## 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}}" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "07149" "MRUPAV" "myopathy with rimmed ubiquitin-positive autophagic vacuolation" "AD" "601846" "" "" "" "00006" "2025-01-27 15:19:59" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PLIN4" "00244" "PLIN4" "07149" ## 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}}" "00410467" "" "" "" "1" "" "00006" "{PMID:Ruggieri 2020:32451610}" "6-generation family, 22 affected (9F, 13M)" "F;M" "no" "Italy" "" "0" "" "" "" "family" "00460589" "" "" "" "13" "" "00006" "{PMID:Yang 2022:35499779}" "5-generation family, 13 affected (5F, 8M)" "F;M" "" "China" "" "0" "" "" "" "Fam1" "00460590" "" "" "" "6" "" "00006" "{PMID:Yang 2022:35499779}" "2-generation family, 6 affected (3F, 3M)" "F;M" "" "China" "" "0" "" "" "" "Fam2" "00460591" "" "" "" "1" "" "00006" "{PMID:Wang 2022:36151849}" "4-generation family, 10 affected (10M)" "M" "" "China" "" "0" "" "" "" "family" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00410467" "00244" "00460589" "00244" "00460590" "00244" "00460591" "05126" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00244, 05126, 07149 ## Count = 4 "{{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}}" "0000302571" "00244" "00410467" "00006" "Familial, autosomal dominant" "" "see paper; ..., progressive myopathy, rimmed ubiquitin-positive autophagic vacuolation" "" "" "" "" "" "" "" "MRUPAV" "progressive myopathy" "0000348311" "00244" "00460589" "00006" "Familial, autosomal dominant" "" "see paper; ..., slowly progressing proximal lower limb weakness beginning 45y–65y; serum creatine kinase (CK) levels normal to mildly elevated; EMF myopathic changes, myotonic discharges; some patients (III4, III5, III6) asymptomatic but showed EMG myopathic changes" "" "" "" "" "" "" "" "MRUPAV" "myopathy" "0000348312" "00244" "00460590" "00006" "Familial, autosomal dominant" "" "see paper; ..., muscle weakness beginning 20y-29y; CK levels mildly elevated; EMG myopathic changes" "" "" "" "" "" "" "" "MRUPAV" "myopathy" "0000348313" "05126" "00460591" "00006" "Familial, autosomal dominant" "" "see paper; ..., limb-girdle weakness; proximal muscle weakness lower limbs, weakness developed slowly, manifesting as muscle involvement proximal upper limb, and distal muscles partially involved" "" "" "" "" "" "" "" "MRUPAV" "limb-girdle weakness" ## 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}}" "0000411732" "00410467" "1" "00006" "00006" "2022-05-26 14:18:51" "00006" "2025-01-27 16:59:52" "RT-PCR;SEQ;SEQ-ON;SEQ-NG" "DNA;RNA" "" "WES" "0000462221" "00460589" "1" "00006" "00006" "2025-01-27 16:27:12" "" "" "PCR" "DNA" "" "" "0000462222" "00460590" "1" "00006" "00006" "2025-01-27 16:43:01" "" "" "PCR" "DNA" "" "" "0000462223" "00460591" "1" "00006" "00006" "2025-01-27 16:56:47" "" "" "SEQ-ON" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000411732" "PLIN4" "0000462221" "PLIN4" "0000462222" "PLIN4" "0000462223" "PLIN4" ## 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}}" "0000868950" "1" "90" "19" "0" "0" "" "" "00006" "PLIN4_000014" "g.4513105_4513203[10]" "" "{PMID:Ruggieri 2020:32451610}" "" "" "expansion of 31 99bp repeat units to 40 units" "Germline" "yes" "" "0" "" "" "g.4513093_4513191[10]" "" "pathogenic (dominant)" "" "0000983517" "0" "50" "19" "4508955" "4508955" "subst" "4.12538E-6" "01804" "PLIN4_000016" "g.4508955G>A" "" "" "" "PLIN4(NM_001367868.2):c.3527C>T (p.(Ala1176Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983518" "0" "30" "19" "4512169" "4512169" "subst" "0" "01804" "PLIN4_000017" "g.4512169C>G" "" "" "" "PLIN4(NM_001367868.2):c.1803G>C (p.(Val601=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983519" "0" "30" "19" "4513025" "4513025" "subst" "0" "01804" "PLIN4_000018" "g.4513025T>C" "" "" "" "PLIN4(NM_001367868.2):c.947A>G (p.(Lys316Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001021669" "1" "90" "19" "4510520" "4513574" "ins" "0" "00006" "PLIN4_000019" "g.(4510520_4513574)insN[(891_1089)]" "" "{PMID:Yang 2022:35499779}" "" "" "reduced penetrance; suggested expansion 99bp repeat unit (insertion about 1000bp)" "Germline" "yes" "" "0" "" "" "g.(4510508_4513562)insN[(891_1089)]" "" "pathogenic (!)" "" "0001021670" "1" "90" "19" "4510520" "4513574" "ins" "0" "00006" "PLIN4_000020" "g.(4510520_4513574)insN[(1881_2178)]" "" "{PMID:Yang 2022:35499779}" "" "" "suggested expansion 99bp repeat unit (insertion about 2000bp); larger repeat expansion seems to correlate with more severe proximal limb weakness and faster disease progression" "Germline" "yes" "" "0" "" "" "g.(4510508_4513562)insN[(1881_2178)]" "" "pathogenic (dominant)" "" "0001021671" "11" "90" "19" "0" "0" "" "" "00006" "PLIN4_000014" "g.4513105_4513203[10]" "" "{PMID:Wang 2022:36151849}" "" "" "expansion 29 × 99bp repeat unit to 39 (compared to NM_001080400.1)" "Germline" "yes" "" "0" "" "" "g.4513093_4513191[10]" "" "pathogenic (dominant)" "" "0001043021" "0" "30" "19" "4508906" "4508906" "subst" "0.00390354" "01804" "PLIN4_000021" "g.4508906G>A" "" "" "" "PLIN4(NM_001367868.2):c.3576C>T (p.(Phe1192=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043022" "0" "30" "19" "4510548" "4510548" "subst" "0" "01804" "PLIN4_000022" "g.4510548C>T" "" "" "" "PLIN4(NM_001367868.2):c.3424G>A (p.(Gly1142Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043023" "0" "30" "19" "4511646" "4511646" "subst" "0.000399357" "01804" "PLIN4_000023" "g.4511646A>C" "" "" "" "PLIN4(NM_001367868.2):c.2326T>G (p.(Leu776Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043024" "0" "30" "19" "4511679" "4511679" "subst" "0" "01804" "PLIN4_000024" "g.4511679C>T" "" "" "" "PLIN4(NM_001367868.2):c.2293G>A (p.(Ala765Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043025" "0" "10" "19" "4512126" "4512126" "subst" "0.00116567" "01804" "PLIN4_000025" "g.4512126C>T" "" "" "" "PLIN4(NM_001367868.2):c.1846G>A (p.(Val616Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001043026" "0" "30" "19" "4512740" "4512740" "subst" "2.51505E-5" "01804" "PLIN4_000026" "g.4512740G>A" "" "" "" "PLIN4(NM_001367868.2):c.1232C>T (p.(Ala411Val))" "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 PLIN4 ## 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}}" "{{VariantOnTranscript/Haplotype}}" "0000868950" "00025716" "90" "0" "0" "0" "0" "c.977_1075[10]" "r.977_1075[10]" "p.Ser326_Thr358[10]" "3" "" "0000983517" "00025716" "50" "3527" "0" "3527" "0" "c.3527C>T" "r.(?)" "p.(Ala1176Val)" "" "" "0000983518" "00025716" "30" "1803" "0" "1803" "0" "c.1803G>C" "r.(?)" "p.(Val601=)" "" "" "0000983519" "00025716" "30" "947" "0" "947" "0" "c.947A>G" "r.(?)" "p.(Lys316Arg)" "" "" "0001021669" "00025716" "90" "398" "0" "3452" "0" "c.(398_3452)insN[(891_1089)]" "r.?" "p.(Ser326_Thr358[(9_11)]" "" "" "0001021670" "00025716" "90" "398" "0" "3452" "0" "c.(398_3452)insN[(1881_2178)]" "r.?" "p.(Ser326_Thr358[(19_22)]" "" "" "0001021671" "00025716" "90" "0" "0" "0" "0" "c.977_1075[10]" "r.977_1075[10]" "p.Ser326_Thr358[10]" "" "" "0001043021" "00025716" "30" "3576" "0" "3576" "0" "c.3576C>T" "r.(?)" "p.(Phe1192=)" "" "" "0001043022" "00025716" "30" "3424" "0" "3424" "0" "c.3424G>A" "r.(?)" "p.(Gly1142Ser)" "" "" "0001043023" "00025716" "30" "2326" "0" "2326" "0" "c.2326T>G" "r.(?)" "p.(Leu776Val)" "" "" "0001043024" "00025716" "30" "2293" "0" "2293" "0" "c.2293G>A" "r.(?)" "p.(Ala765Thr)" "" "" "0001043025" "00025716" "10" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Val616Ile)" "" "" "0001043026" "00025716" "30" "1232" "0" "1232" "0" "c.1232C>T" "r.(?)" "p.(Ala411Val)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000411732" "0000868950" "0000462221" "0001021669" "0000462222" "0001021670" "0000462223" "0001021671"