### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PIGP) # 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}}" "PIGP" "phosphatidylinositol glycan anchor biosynthesis, class P" "21" "q22.2" "unknown" "NC_000021.8" "UD_132439006533" "" "https://www.LOVD.nl/PIGP" "" "1" "3046" "51227" "605938" "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/PIGP_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-03-09 09:04:47" "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}}" "00016155" "PIGP" "transcript variant 1" "003" "NM_153681.2" "" "NP_710148.1" "" "" "" "-216" "695" "477" "38445103" "38437664" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05404" "EIEE55;GPIBD14" "encephalopathy, epileptic, early infantile, type 55 (EIEE-55, glycosylphosphatidylinositol deficiency, type 14 (GPIBD-14))" "AR" "617599" "" "autosomal recessive" "" "00006" "2018-03-09 09:06:38" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PIGP" "05404" ## 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}}" "00155011" "" "" "" "2" "" "00081" "{PMID:Johnstone 2017:28334793}" "" "M" "no" "" "" "0" "" "" "French-Irish" "" "00155012" "" "" "00155011" "1" "" "00081" "{PMID:Johnstone 2017:28334793}" "" "F" "no" "" "" "0" "" "" "French-Irish" "" "00246132" "" "" "" "4" "" "01232" "" "" "M" "yes" "Italy" "12y" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00246132" "05404" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05404 ## Count = 0 ## 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}}" "0000155874" "00155011" "1" "00081" "00081" "2018-03-09 00:17:01" "" "" "SEQ-NG" "DNA" "Blood" "WES" "0000155875" "00155012" "1" "00081" "00081" "2018-03-09 00:29:13" "" "" "SEQ-NG" "DNA" "Blood" "WES" "0000247244" "00246132" "1" "01232" "01232" "2019-07-12 12:35:08" "" "" "SEQ-NG" "DNA" "blood" "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}}" "0000357613" "21" "70" "21" "38444814" "38444814" "subst" "2.84241E-5" "00081" "PIGP_000001" "g.38444814A>G" "" "{PMID:Johnstone et al. 2017:28334793}" "" "" "" "Germline" "" "" "0" "" "" "g.37072514A>G" "" "likely pathogenic" "" "0000357614" "0" "70" "21" "38437905" "38437905" "del" "0" "00081" "PIGP_000002" "g.38437905del" "" "{PMID:Johnstone et al. 2017:28334793}" "" "" "" "Germline" "" "" "0" "" "" "g.37065605del" "" "likely pathogenic" "" "0000357615" "21" "70" "21" "38444814" "38444814" "subst" "2.84241E-5" "00081" "PIGP_000001" "g.38444814A>G" "" "{PMID:Johnstone et al. 2017:28334793}" "" "" "" "Germline" "" "" "0" "" "" "g.37072514A>G" "" "likely pathogenic" "" "0000357616" "0" "70" "21" "38437905" "38437905" "del" "0" "00081" "PIGP_000002" "g.38437905del" "" "{PMID:Johnstone et al. 2017:28334793}" "" "" "" "Germline" "" "" "0" "" "" "g.37065605del" "" "likely pathogenic" "" "0000500090" "3" "70" "21" "38437976" "38437976" "del" "0" "01232" "PIGP_000003" "g.38437976del" "" "" "" "38437903" "" "Germline" "yes" "" "0" "" "" "g.37065676del" "" "pathogenic" "" "0000570646" "0" "50" "21" "38437905" "38437905" "del" "0" "02327" "PIGP_000002" "g.38437905del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37065605del" "" "VUS" "" "0001043574" "0" "30" "21" "38444614" "38444614" "subst" "0" "01804" "TTC3_000008" "g.38444614A>G" "" "" "" "PIGP(NM_016430.4):c.-162-4T>C" "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 PIGP ## Count = 7 "{{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}}" "0000357613" "00016155" "70" "74" "0" "74" "0" "c.74T>C" "r.(?)" "p.(Met25Thr)" "" "0000357614" "00016155" "70" "456" "0" "456" "0" "c.456del" "r.(?)" "p.(Glu153Asnfs*34)" "" "0000357615" "00016155" "70" "74" "0" "74" "0" "c.74T>C" "r.(?)" "p.(Met25Thr)" "" "0000357616" "00016155" "70" "456" "0" "456" "0" "c.456del" "r.(?)" "p.(Glu153Asnfs*34)" "" "0000500090" "00016155" "70" "384" "0" "384" "0" "c.384del" "r.(?)" "p.(Glu129Argfs*7)" "" "0000570646" "00016155" "50" "456" "0" "456" "0" "c.456del" "r.(?)" "p.(Glu153AsnfsTer34)" "" "0001043574" "00016155" "30" "154" "120" "154" "120" "c.154+120T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000155874" "0000357613" "0000155874" "0000357614" "0000155875" "0000357615" "0000155875" "0000357616" "0000247244" "0000500090"