### LOVD-version 3000-270 ### 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" "2021-09-17 14:40:49" ## 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 = 5 "{{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" "04214" "retinal disease" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00006" "2020-08-25 10:54:40" "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 = 8 "{{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}}" "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" "00390029" "" "" "" "1" "" "00000" "{PMID:Ruberto 2020:32507954}" "" "?" "" "Italy" "" "0" "" "" "" "16" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00289468" "00198" "00289469" "00198" "00304134" "00198" "00309898" "05079" "00309899" "05079" "00309900" "05079" "00390029" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 03778, 04214, 05079 ## Count = 4 "{{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" "" "0000283569" "04214" "00390029" "00000" "Unknown" "" "Very pale optic disk, chorioretinal atrophy in macular area, highly altered fundus" "" "" "" "" "" "" "" "" "Retinal dystrophy" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{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" "" "" "0000391270" "00390029" "1" "00000" "03840" "2021-11-08 12:01:50" "" "" "arrayCGH" "DNA" "" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000311044" "PEX14" "0000311045" "PEX14" "0000311046" "PEX14" "0000391270" "NMNAT1" ## 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 = 21 "{{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_004565.3):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_004565.3):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_004565.3):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_004565.3):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_004565.3):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" "" "0000821006" "0" "90" "1" "9200001" "12700000" "del" "0" "00000" "MTHFR_000084" "g.9200001_12700000del" "" "{PMID:Ruberto 2020:32507954}" "" "CGH array deletion in Cr1p36.22 involving NMNAT1 gene," "am apparent homozygous NMNAT1 mutation was found, probably on the other allele" "Unknown" "?" "" "0" "" "" "g.9100001_12500000del" "" "likely 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 = 21 "{{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=)" "" "0000821006" "00001598" "90" "-21" "-1335002" "1905" "2009185" "c.-1335023_*2009956del" "r.0?" "p.0?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000000210" "0000011361" "0000290636" "0000647325" "0000290637" "0000647326" "0000305263" "0000668951" "0000311044" "0000686219" "0000311045" "0000686220" "0000311046" "0000686221" "0000391270" "0000821006"