### LOVD-version 3000-260 ### 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}}" "{{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}}" "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" "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" "2021-02-08 18:36:18" ## 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" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289469" "" "" "" "30" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304134" "" "" "" "1" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "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 = 20 "{{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" "0.155224" "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" "0.295101" "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" "0.0000284854" "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" "0.00152356" "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" "0.000105953" "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" "0.000658965" "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" "0.0000121884" "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" "0.00236805" "03575" "PEX14_000009" "g.10659333T>G" "12/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous, no homozygous; {DB:CLININrs77261230}" "Germline" "" "rs77261230" "0" "" "" "g.10599276T>G" "" "VUS" "" "0000647326" "1" "50" "1" "10689678" "10689678" "subst" "0.0110936" "03575" "PEX14_000015" "g.10689678G>A" "30/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 30 heterozygous; {DB:CLININrs36083022}" "Germline" "" "rs36083022" "0" "" "" "g.10629621G>A" "" "VUS" "" "0000668951" "3" "50" "1" "10689678" "10689678" "subst" "0.0110936" "03575" "PEX14_000015" "g.10689678G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs36083022}" "Germline" "" "rs36083022" "0" "" "" "g.10629621G>A" "" "VUS" "" "0000675389" "0" "30" "1" "10689705" "10689705" "subst" "0.00343304" "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" "" "0000716650" "0" "30" "1" "10535067" "10535067" "subst" "0.00150425" "01943" "PEX14_000018" "g.10535067G>A" "" "" "" "PEX14(NM_004565.2):c.36+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716651" "0" "50" "1" "10689767" "10689767" "subst" "0" "02325" "PEX14_000019" "g.10689767C>T" "" "" "" "PEX14(NM_004565.2):c.857C>T (p.S286F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716652" "0" "30" "1" "10689920" "10689920" "subst" "0" "01943" "PEX14_000020" "g.10689920T>C" "" "" "" "PEX14(NM_004565.2):c.1010T>C (p.V337A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716653" "0" "30" "1" "10690026" "10690026" "subst" "0.000359897" "01943" "PEX14_000021" "g.10690026C>T" "" "" "" "PEX14(NM_004565.2):c.1116C>T (p.N372=)" "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 PEX14 ## Count = 20 "{{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" "0000716650" "00001598" "30" "36" "8" "36" "8" "c.36+8G>A" "r.(=)" "p.(=)" "" "0000716651" "00001598" "50" "857" "0" "857" "0" "c.857C>T" "r.(?)" "p.(Ser286Phe)" "" "0000716652" "00001598" "30" "1010" "0" "1010" "0" "c.1010T>C" "r.(?)" "p.(Val337Ala)" "" "0000716653" "00001598" "30" "1116" "0" "1116" "0" "c.1116C>T" "r.(?)" "p.(Asn372=)" "" ## 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"