### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PNPLA4) # 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}}" "PNPLA4" "patatin-like phospholipase domain containing 4" "X" "p22.3" "unknown" "NG_016624.1" "UD_132118580335" "" "https://www.LOVD.nl/PNPLA4" "" "1" "24887" "8228" "300102" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/PNPLA4_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2017-03-30 19:57:05" "00000" "2024-08-28 13:16:32" ## 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}}" "00000367" "PNPLA4" "transcript variant 1" "003" "NM_004650.2" "" "NP_004641.1" "" "" "" "-162" "2685" "762" "7866804" "7895475" "00000" "2012-09-13 12:10:09" "" "" ## 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}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03859" "PAPA6" "polydactyly, postaxial, type A6 (PAPA-6)" "AR" "615226" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00102104" "" "" "" "1" "" "01867" "" "" "M" "yes" "Pakistan" "" "0" "" "" "Pastoon" "BD267-4" "00173340" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173592" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173690" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00395575" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-1018" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00102104" "03859" "00173340" "00187" "00173592" "00187" "00173690" "00187" "00395575" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 01157, 03859, 04214 ## Count = 7 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "0000081659" "03859" "00102104" "01867" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000138204" "00187" "00173340" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138456" "00187" "00173592" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138554" "00187" "00173690" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000288773" "04214" "00395575" "00000" "Unknown" "" "astigmatism, early onset rod-cone dystrophy, hypermetropia, strabismus, global developmental delay, tip-toe gait, talipes equinovarus, anteverted nares, broad nasal tip, depressed nasal bridge, hypertelorism, long philtrum, low anterior hairline, narrow palate, retrognathia, thin vermilion border" "" "" "" "" "" "" "" "" "Early-onset retinitis pigmentosa, deletion syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000102555" "00102104" "1" "01867" "01867" "2017-03-30 12:52:43" "" "" "SEQ-NG-I" "DNA" "" "" "0000174223" "00173340" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174475" "00173592" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174573" "00173690" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000396813" "00395575" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing | aCGH" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000102555" "MAD1L1" "0000174223" "PPP1R3F" "0000174475" "TRO" "0000174573" "GDPD2" "0000396813" "NLGN4X" ## 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 = 24 "{{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}}" "0000006257" "20" "50" "X" "7867378" "7867378" "subst" "0" "00037" "PNPLA4_000008" "g.7867378T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7899337T>C" "" "VUS" "" "0000006258" "20" "50" "X" "7867435" "7867435" "subst" "0" "00037" "PNPLA4_000006" "g.7867435G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7899394G>A" "" "VUS" "" "0000006259" "20" "50" "X" "7867668" "7867668" "subst" "0" "00037" "PNPLA4_000005" "g.7867668G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7899627G>C" "" "VUS" "" "0000006260" "20" "50" "X" "7867732" "7867732" "subst" "0" "00037" "PNPLA4_000007" "g.7867732A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7899691A>G" "" "VUS" "" "0000006261" "20" "50" "X" "7890215" "7890215" "subst" "0" "00037" "PNPLA4_000009" "g.7890215C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7922174C>T" "" "VUS" "" "0000008262" "20" "50" "X" "7867378" "7867378" "subst" "0" "00037" "PNPLA4_000008" "g.7867378T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7899337T>C" "" "VUS" "" "0000008263" "20" "50" "X" "7867435" "7867435" "subst" "0" "00037" "PNPLA4_000006" "g.7867435G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7899394G>A" "" "VUS" "" "0000008264" "20" "50" "X" "7867668" "7867668" "subst" "0" "00037" "PNPLA4_000005" "g.7867668G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7899627G>C" "" "VUS" "" "0000008265" "20" "50" "X" "7867732" "7867732" "subst" "0" "00037" "PNPLA4_000007" "g.7867732A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7899691A>G" "" "VUS" "" "0000008266" "20" "50" "X" "7890215" "7890215" "subst" "0" "00037" "PNPLA4_000009" "g.7890215C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7922174C>T" "" "VUS" "" "0000168830" "3" "10" "X" "7889828" "7889828" "subst" "0.00392809" "01867" "PNPLA4_000004" "g.7889828C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.7921787C>T" "" "benign" "" "0000306028" "0" "50" "X" "7890070" "7890070" "subst" "0.00010758" "01943" "PNPLA4_000013" "g.7890070C>T" "" "" "" "PNPLA4(NM_004650.2):c.250G>A (p.G84S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7922029C>T" "" "VUS" "" "0000306029" "0" "30" "X" "7870137" "7870137" "subst" "0.000149454" "01943" "PNPLA4_000011" "g.7870137C>T" "" "" "" "PNPLA4(NM_004650.2):c.523G>A (p.V175I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7902096C>T" "" "likely benign" "" "0000333065" "0" "30" "X" "7889852" "7889852" "subst" "1.68115E-5" "01804" "PNPLA4_000012" "g.7889852C>T" "" "" "" "PNPLA4(NM_001142389.1):c.313G>A (p.(Glu105Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7921811C>T" "" "likely benign" "" "0000339010" "0" "70" "X" "7870101" "7870101" "subst" "3.41355E-5" "02327" "PNPLA4_000014" "g.7870101G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7902060G>A" "" "likely pathogenic" "" "0000401243" "1" "30" "X" "7890077" "7890077" "subst" "0.000395997" "00124" "PNPLA4_000016" "g.7890077T>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "V81V" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.7922036T>C" "" "likely benign" "" "0000401244" "1" "50" "X" "7870085" "7870085" "subst" "0.00014806" "00124" "PNPLA4_000010" "g.7870085G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "P192L" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.7902044G>A" "" "VUS" "" "0000401245" "1" "50" "X" "7870176" "7870176" "subst" "0" "00124" "PNPLA4_000015" "g.7870176C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "V162M" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.7902135C>T" "" "VUS" "" "0000577607" "0" "30" "X" "7868758" "7868758" "subst" "0" "01943" "PNPLA4_000017" "g.7868758T>G" "" "" "" "PNPLA4(NM_004650.2):c.731A>C (p.K244T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7900717T>G" "" "likely benign" "" "0000577610" "0" "50" "X" "7893994" "7893994" "subst" "3.42507E-5" "01804" "PNPLA4_000018" "g.7893994G>A" "" "" "" "PNPLA4(NM_001142389.1):c.167C>T (p.(Pro56Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7925953G>A" "" "VUS" "" "0000659465" "0" "30" "X" "7870154" "7870154" "subst" "3.51453E-5" "01804" "PNPLA4_000019" "g.7870154G>A" "" "" "" "PNPLA4(NM_001142389.1):c.506C>T (p.(Ala169Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7902113G>A" "" "likely benign" "" "0000828495" "0" "50" "X" "5748782" "10477366" "del" "0" "00000" "NLGN4X_000080" "g.5748782_10477366del" "" "{PMID:Perea-Romero 2021:34448047}" "" "chrX, g.5748782_10477366del, arr[GRCh37] Xp22.32p22.2(5748782-10477366)x1, heterozygous | heterozygous" "no gene indicated in publication!" "Germline" "yes" "" "0" "" "" "g.5830745_10559329del" "" "VUS" "ACMG" "0000856814" "0" "30" "X" "7870085" "7870085" "subst" "0.00014806" "01943" "PNPLA4_000010" "g.7870085G>A" "" "" "" "PNPLA4(NM_004650.2):c.575C>T (p.P192L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006984" "0" "30" "X" "7894048" "7894048" "subst" "0" "01804" "PNPLA4_000020" "g.7894048G>A" "" "" "" "PNPLA4(NM_004650.2):c.113C>T (p.(Ala38Val))" "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 PNPLA4 ## Count = 24 "{{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}}" "0000006257" "00000367" "50" "2111" "0" "2111" "0" "c.*1349A>G" "r.(=)" "p.(=)" "" "0000006258" "00000367" "50" "2054" "0" "2054" "0" "c.*1292C>T" "r.(=)" "p.(=)" "" "0000006259" "00000367" "50" "1821" "0" "1821" "0" "c.*1059C>G" "r.(=)" "p.(=)" "" "0000006260" "00000367" "50" "1757" "0" "1757" "0" "c.*995T>C" "r.(=)" "p.(=)" "" "0000006261" "00000367" "50" "181" "-76" "181" "-76" "c.181-76G>A" "r.(=)" "p.(=)" "" "0000008262" "00000367" "50" "2111" "0" "2111" "0" "c.*1349A>G" "r.(=)" "p.(=)" "" "0000008263" "00000367" "50" "2054" "0" "2054" "0" "c.*1292C>T" "r.(=)" "p.(=)" "" "0000008264" "00000367" "50" "1821" "0" "1821" "0" "c.*1059C>G" "r.(=)" "p.(=)" "" "0000008265" "00000367" "50" "1757" "0" "1757" "0" "c.*995T>C" "r.(=)" "p.(=)" "" "0000008266" "00000367" "50" "181" "-76" "181" "-76" "c.181-76G>A" "r.(=)" "p.(=)" "" "0000168830" "00000367" "10" "337" "0" "337" "0" "c.337G>A" "r.(?)" "p.(Val113Ile)" "4" "0000306028" "00000367" "50" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.(Gly84Ser)" "" "0000306029" "00000367" "30" "523" "0" "523" "0" "c.523G>A" "r.(?)" "p.(Val175Ile)" "" "0000333065" "00000367" "30" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Glu105Lys)" "" "0000339010" "00000367" "70" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Arg187Ter)" "" "0000401243" "00000367" "30" "243" "0" "243" "0" "c.243A>G" "r.(?)" "p.(=)" "3" "0000401244" "00000367" "50" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Pro192Leu)" "6" "0000401245" "00000367" "50" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Val162Met)" "6" "0000577607" "00000367" "30" "731" "0" "731" "0" "c.731A>C" "r.(?)" "p.(Lys244Thr)" "" "0000577610" "00000367" "50" "167" "0" "167" "0" "c.167C>T" "r.(?)" "p.(Pro56Leu)" "" "0000659465" "00000367" "30" "506" "0" "506" "0" "c.506C>T" "r.(?)" "p.(Ala169Val)" "" "0000828495" "00000367" "50" "-2582053" "0" "2120707" "0" "c.-2582053_*2119945del" "r.0?" "p.0?" "" "0000856814" "00000367" "30" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Pro192Leu)" "" "0001006984" "00000367" "30" "113" "0" "113" "0" "c.113C>T" "r.(?)" "p.(Ala38Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000000209" "0000006257" "0000000209" "0000006258" "0000000209" "0000006259" "0000000209" "0000006260" "0000000209" "0000006261" "0000000210" "0000008262" "0000000210" "0000008263" "0000000210" "0000008264" "0000000210" "0000008265" "0000000210" "0000008266" "0000102555" "0000168830" "0000174223" "0000401243" "0000174475" "0000401244" "0000174573" "0000401245" "0000396813" "0000828495"