### LOVD-version 3000-250 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PEX14) # 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}}" "{{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}}" "PEX14" "peroxisomal biogenesis factor 14" "1" "p36.22" "unknown" "NG_008340.2" "UD_132118954983" "" "https://www.LOVD.nl/PEX14" "" "1" "8856" "5195" "601791" "1" "1" "1" " This database is one of the dbPEX gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PEX14_codingDNA.html" "1" "" " This database is one of the dbPEX gene variant databases.\r\n
\r\n
" "-1" "" "-1" "00000" "2006-05-05 00:00:00" "00006" "2020-09-10 16:29:03" "00000" "2020-09-15 15:50:26" ## 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}}" "00001598" "PEX14" "peroxisomal biogenesis factor 14" "001" "NM_004565.2" "" "NP_004556.1" "" "" "" "-21" "1905" "1134" "10535003" "10690815" "00000" "2012-09-13 13:41:47" "" "" ## 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" "2016-10-22 17:54:40" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-10-24 17:14:32" "03778" "PBD13A" "peroxisome biogenesis disorder, type 13A (PBD13A)" "AR" "614887" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-09-04 17:19:39" "05079" "PBD" "peroxisome biogenesis disorder (Zellweger syndrome)" "" "" "" "" "" "00006" "2015-09-25 13:40:55" "00006" "2020-09-04 17:15:58" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PEX14" "03778" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{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}}" "00000209" "" "" "" "1" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00289468" "" "" "" "12" "03575" "Faruq 2020, submitted" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289469" "" "" "" "30" "03575" "Faruq 2020, submitted" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304134" "" "" "" "1" "03575" "Faruq 2020, subitted" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309898" "" "" "" "1" "02015" "{PMID:Shimozawa 2004:15146459}" "" "" "" "Japan" "00y00m10d" "0" "" "" "" "PatK-01" "00309899" "" "" "" "1" "02015" "{PMID:Huybrechts 2008:18285423}" "" "" "yes" "Pakistan" "" "0" "" "" "" "?" "00309900" "" "" "" "1" "00006" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00289468" "00198" "00289469" "00198" "00304134" "00198" "00309898" "05079" "00309899" "05079" "00309900" "05079" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 03778, 05079 ## 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}}" "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" "" "" "" "" "" "" "" "" "" "0000235216" "05079" "00309898" "00006" "Familial, autosomal recessive" "00y00m10d" "see paper; ...,uneventful pregnancy, typical craniofacial dysmorphia including large open fontanelles, high forehead, flat occiput, low/broad nasal bridge, amicrognathia; neurologic abnormalities, including hypotonia; plasma analysis elevated very long chain fatty acids, di- and trihydroxycholestanoic acid, normal phytanic acid level; erythrocyte plasmalogens undetectable; died at 10d" "" "" "" "" "" "" "" "" "PBD13A" "Zellweger syndrome" "" "0000235217" "05079" "00309899" "00006" "Familial, autosomal recessive" "" "see paper; ...,severe cholestasis, hepatomegaly, neuronal migration defect, progressive hypotonia" "" "" "" "" "" "" "" "" "" "Zellweger 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}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000290636" "00289468" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290637" "00289469" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305263" "00304134" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000311044" "00309898" "1" "02015" "00006" "2006-05-05 10:21:00" "00006" "2020-09-06 09:41:18" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311045" "00309899" "1" "02015" "00006" "2008-01-31 08:48:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311046" "00309900" "1" "00006" "00006" "2020-09-06 09:57:17" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000311044" "PEX14" "0000311045" "PEX14" "0000311046" "PEX14" ## 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 = 16 "{{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}}" "0000011361" "3" "30" "1" "10631455" "10631455" "subst" "0" "00037" "PEX14_000004" "g.10631455C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10571398C>G" "" "likely benign" "" "0000248959" "0" "10" "1" "10678488" "10678488" "subst" "0.186529" "02325" "PEX14_000008" "g.10678488A>T" "" "" "" "PEX14(NM_004565.2):c.384+14A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10618431A>T" "" "benign" "" "0000296905" "0" "10" "1" "10596341" "10596341" "subst" "0.24927" "02325" "PEX14_000005" "g.10596341C>T" "" "" "" "PEX14(NM_004565.2):c.156C>T (p.F52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10536284C>T" "" "benign" "" "0000320532" "0" "50" "1" "10678421" "10678421" "subst" "0" "01804" "PEX14_000007" "g.10678421G>A" "" "" "" "PEX14(NM_004565.2):c.331G>A (p.(Ala111Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10618364G>A" "" "VUS" "" "0000502370" "0" "30" "1" "10683091" "10683091" "subst" "0.000153775" "02325" "PEX14_000010" "g.10683091C>G" "" "" "" "PEX14(NM_004565.2):c.400C>G (p.L134V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10623034C>G" "" "likely benign" "" "0000502371" "0" "30" "1" "10683142" "10683142" "subst" "0.000461326" "01804" "PEX14_000011" "g.10683142G>A" "" "" "" "PEX14(NM_004565.2):c.451G>A (p.(Gly151Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10623085G>A" "" "likely benign" "" "0000502372" "0" "50" "1" "10684484" "10684484" "subst" "0.000768876" "01943" "PEX14_000012" "g.10684484C>G" "" "" "" "PEX14(NM_004565.2):c.575C>G (p.A192G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10624427C>G" "" "VUS" "" "0000604629" "0" "50" "1" "10555356" "10555356" "subst" "0" "02325" "PEX14_000013" "g.10555356A>T" "" "" "" "PEX14(NM_004565.2):c.62A>T (p.N21I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10495299A>T" "" "VUS" "" "0000604630" "0" "30" "1" "10596336" "10596336" "subst" "0" "01943" "PEX14_000014" "g.10596336G>A" "" "" "" "PEX14(NM_004565.2):c.151G>A (p.A51T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10536279G>A" "" "likely benign" "" "0000647325" "1" "50" "1" "10659333" "10659333" "subst" "0.0000768876" "03575" "PEX14_000009" "g.10659333T>G" "12/2795 individuals" "Faruq 2020, submtted" "" "" "12 heterozygous, no homozygous; {DB:CLININrs77261230}" "Germline" "" "rs77261230" "0" "" "" "g.10599276T>G" "" "VUS" "" "0000647326" "1" "50" "1" "10689678" "10689678" "subst" "0.0134553" "03575" "PEX14_000015" "g.10689678G>A" "30/2795 individuals" "Faruq 2020, submtted" "" "" "conflicting interpretations of pathogenicity; 30 heterozygous; {DB:CLININrs36083022}" "Germline" "" "rs36083022" "0" "" "" "g.10629621G>A" "" "VUS" "" "0000668951" "3" "50" "1" "10689678" "10689678" "subst" "0.0134553" "03575" "PEX14_000015" "g.10689678G>A" "1/2795 individuals" "Faruq 2020, submtted" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs36083022}" "Germline" "" "rs36083022" "0" "" "" "g.10629621G>A" "" "VUS" "" "0000675389" "0" "30" "1" "10689705" "10689705" "subst" "0.00545902" "01943" "PEX14_000016" "g.10689705A>G" "" "" "" "PEX14(NM_004565.2):c.795A>G (p.S265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000686219" "3" "90" "1" "10684462" "10684462" "subst" "0" "02015" "PEX14_000001" "g.10684462C>T" "" "{PMID:Shimozawa 2004:15146459}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686220" "3" "90" "1" "10575824" "10627825" "del" "0" "02015" "PEX14_000002" "g.(10555379_10596269)_(10596355_10659294)del" "" "{PMID:Huybrechts 2008:18285423}" "" "85-?_170+?del" "41 kb deletion" "Germline" "" "" "0" "" "" "g.(10495322_10536212)_(10536298_10599237)del" "" "pathogenic (recessive)" "" "0000686221" "1" "90" "1" "10684495" "10684495" "subst" "0" "00006" "PEX14_000017" "g.10684495G>T" "" "{PMID:Ebberink 2011:21031596}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" ## 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 PEX14 ## Count = 16 "{{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}}" "0000011361" "00001598" "30" "170" "-27840" "170" "-27840" "c.170-27840C>G" "r.(?)" "p.(=)" "3i" "0000248959" "00001598" "10" "384" "14" "384" "14" "c.384+14A>T" "r.(=)" "p.(=)" "" "0000296905" "00001598" "10" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(Phe52=)" "" "0000320532" "00001598" "50" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Ala111Thr)" "" "0000502370" "00001598" "30" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Leu134Val)" "" "0000502371" "00001598" "30" "451" "0" "451" "0" "c.451G>A" "r.(?)" "p.(Gly151Ser)" "" "0000502372" "00001598" "50" "575" "0" "575" "0" "c.575C>G" "r.(?)" "p.(Ala192Gly)" "" "0000604629" "00001598" "50" "62" "0" "62" "0" "c.62A>T" "r.(?)" "p.(Asn21Ile)" "" "0000604630" "00001598" "30" "151" "0" "151" "0" "c.151G>A" "r.(?)" "p.(Ala51Thr)" "" "0000647325" "00001598" "50" "208" "0" "208" "0" "c.208T>G" "r.(?)" "p.(Ser70Ala)" "" "0000647326" "00001598" "50" "768" "0" "768" "0" "c.768G>A" "r.(=)" "p.(=)" "" "0000668951" "00001598" "50" "768" "0" "768" "0" "c.768G>A" "r.(=)" "p.(=)" "" "0000675389" "00001598" "30" "795" "0" "795" "0" "c.795A>G" "r.(?)" "p.(Ser265=)" "" "0000686219" "00001598" "90" "553" "0" "553" "0" "c.553C>T" "r.553c>u" "p.Gln185*" "" "0000686220" "00001598" "90" "85" "0" "170" "0" "c.(84+1_85-1)_(169+1_170-1)del" "r.85_169del" "p.Ile29fs" "2i_3i" "0000686221" "00001598" "90" "585" "1" "585" "1" "c.585+1G>T" "r.spl" "p.?" "7i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000000210" "0000011361" "0000290636" "0000647325" "0000290637" "0000647326" "0000305263" "0000668951" "0000311044" "0000686219" "0000311045" "0000686220" "0000311046" "0000686221"