### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PNPLA8) # 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}}" "PNPLA8" "patatin-like phospholipase domain containing 8" "7" "q31" "unknown" "NC_000007.13" "UD_136023353210" "" "https://www.LOVD.nl/PNPLA8" "" "1" "28900" "50640" "612123" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PNPLA8_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-10-10 15:41:46" "00006" "2026-03-06 17:26:39" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00016455" "PNPLA8" "transcript variant 1" "006" "NM_015723.3" "" "NP_056538.1" "" "" "" "-531" "4328" "2349" "108166762" "108110866" "" "0000-00-00 00:00:00" "" "" "00026018" "PNPLA8" "transcript variant 2 (expired, new version available) (expired, new version available)" "005" "NM_001256007.2" "" "NP_001242936.1" "" "" "" "-419" "4328" "2349" "108166762" "108110866" "00006" "2025-10-10 15:42:33" "" "" ## 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" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "04617" "MMLA" "myopathy, mitochondrial?, with lactic acidosis (MMLA)" "AR" "251950" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PNPLA8" "04617" ## 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}}" "00024128" "" "" "" "1" "" "00811" "{PMID:Saunders 2015:25512002}, {DOI:Saunders 2015:10.1002/humu.22743}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United States" "" "0" "" "" "" "" "00467285" "" "" "" "1" "" "00006" "{PMID:Soden 2014:25473036}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "CMH193" "00473134" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam101236Pat268" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00024128" "00244" "00467285" "00198" "00473134" "05113" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 04617, 05113 ## Count = 3 "{{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}}" "0000078456" "00244" "00024128" "00006" "Familial, autosomal recessive" "07y" "suspected mitochondrial myopathy manifested as progressive muscle weakness, hypotonia, seizures, poor weight gain, lactic acidosis" "02y" "" "toe-walking, Gowers sign" "" "" "" "" "" "" "" "" "0000352492" "00198" "00467285" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000357929" "05113" "00473134" "00006" "Familial, autosomal recessive" "52y" "onset 8y with feet weakness; Difficulty running & climbing steps; Muscle weakness, distal > proximal, lower > upper limbs; Muscle wasting, atrophy of thenar & hypothenar; Speech problem; Swallowing & chewing difficulty; Claw finger/toe deformity; Pes cavus, bilateral; Wheelchair bound since 45y, EMG-NCV: chronic axonal sensorimotor polyneuropathy." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" ## 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}}" "0000024115" "00024128" "1" "00811" "00811" "2014-10-28 17:58:10" "" "" "SEQ-NG-I" "DNA" "" "" "0000468948" "00467285" "1" "00006" "00006" "2025-10-10 16:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000474803" "00473134" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## 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 = 7 "{{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}}" "0000046551" "1" "90" "7" "108155302" "108155305" "del" "0" "00811" "PNPLA8_000001" "g.108155302_108155305del" "" "{PMID:Saunders 2015:25512002}, {DOI:Saunders 2015:10.1002/humu.22743}, {OMIM612123:0001}" "" "NM_001256011.1:c.334_337delAATT" "" "Germline" "yes" "rs786205882" "0" "" "" "g.108514858_108514861del" "" "pathogenic" "" "0000046552" "2" "90" "7" "108112920" "108112921" "del" "0" "00811" "PNPLA8_000002" "g.108112920_108112921del" "" "{PMID:Saunders 2015:25512002}, {DOI:Saunders 2015:10.1002/humu.22743}, {OMIM612123:0002}" "" "NM_001256011.1:c.1975_1976delAG" "" "Germline" "yes" "rs774184465" "0" "" "" "g.108472476_108472477del" "" "pathogenic" "" "0000530417" "0" "50" "7" "108113027" "108113027" "subst" "4.0804E-6" "01943" "PNPLA8_000003" "g.108113027G>A" "" "" "" "PNPLA8(NM_015723.4):c.2167C>T (p.R723*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108472583G>A" "" "VUS" "" "0000887545" "0" "30" "7" "108154659" "108154659" "subst" "0.0035516" "02326" "PNPLA8_000004" "g.108154659A>C" "" "" "" "PNPLA8(NM_015723.5):c.1135T>G (p.C379G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049042" "1" "90" "7" "108155302" "108155305" "del" "0" "00006" "PNPLA8_000001" "g.108155302_108155305del" "" "{PMID:Soden 2014:25473036}" "" "ref?:c.334_337delAATT" "" "Germline" "" "" "0" "" "" "g.108514858_108514861del" "" "pathogenic (recessive)" "" "0001049072" "2" "90" "7" "0" "0" "" "" "00006" "EZH2_000001" "g.?" "" "{PMID:Soden 2014:25473036}" "" "ref?:c.1975_1976delAG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0001069201" "3" "70" "7" "108154879" "108154879" "subst" "0" "00006" "PNPLA8_000005" "g.108154879C>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1_str, PM2" "Germline" "" "" "0" "" "" "g.108514435C>T" "SCV006075140" "likely pathogenic" "ACMG" ## 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 PNPLA8 ## Count = 9 "{{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}}" "0000046551" "00016455" "90" "634" "0" "637" "0" "c.634_637del" "r.(?)" "p.(Asn212Hisfs*29)" "4" "0000046552" "00016455" "90" "2275" "0" "2276" "0" "c.2275_2276del" "r.(?)" "p.(Leu759Alafs*4)" "12" "0000530417" "00016455" "50" "2167" "0" "2167" "0" "c.2167C>T" "r.(?)" "p.(Arg723Ter)" "" "0000530417" "00026018" "50" "2167" "0" "2167" "0" "c.2167C>T" "r.(?)" "p.(Arg723Ter)" "" "0000887545" "00016455" "30" "1135" "0" "1135" "0" "c.1135T>G" "r.(?)" "p.(Cys379Gly)" "" "0000887545" "00026018" "30" "1135" "0" "1135" "0" "c.1135T>G" "r.(?)" "p.(Cys379Gly)" "" "0001049042" "00016455" "90" "634" "0" "637" "0" "c.634_637del" "r.(?)" "p.(Asn212HisfsTer29)" "" "0001049072" "00016455" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0001069201" "00026018" "70" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000024115" "0000046551" "0000024115" "0000046552" "0000468948" "0001049042" "0000468948" "0001049072" "0000474803" "0001069201"