### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SPRTN) # 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}}" "SPRTN" "SprT-like N-terminal domain" "1" "q42.12-q43" "unknown" "NC_000001.10" "UD_136019922131" "" "http://www.LOVD.nl/SPRTN" "" "1" "25356" "83932" "616086" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/SPRTN_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-05-29 13:11:32" "00000" "2022-11-01 13:01:21" ## 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}}" "00020238" "SPRTN" "transcript variant 1" "002" "NM_032018.5" "" "NP_114407.3" "" "" "" "-448" "3132" "1470" "231473682" "231490769" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "04277" "RJALS" "Ruijs-Aalfs syndrome (RJALS)" "AR" "616200" "" "" "" "00006" "2015-05-29 13:12:42" "00006" "2021-12-10 21:51:32" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SPRTN" "04277" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00038712" "" "" "" "1" "" "01296" "{PMID:Lessel 2014:25261934}, {DOI:Lessel 2014:10.1038/ng.3103}" "" "M" "yes" "Morocco" "17y" "0" "" "" "" "" "00038736" "" "" "" "2" "" "00006" "{PMID:Lessel 2014:25261934}, {DOI:Lessel 2014:10.1038/ng.3103}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "no" "Australia" "18y" "0" "" "" "European" "" "00038737" "" "" "00038736" "1" "" "00006" "{PMID:Lessel 2014:25261934}, {DOI:Lessel 2014:10.1038/ng.3103}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "no" "Australia" "" "0" "" "" "European" "" "00443879" "" "" "" "2" "" "00006" "{PMID:Chatron 2020:32282878}" "3-generation family, 2 affected brothesr, unaffected heterozygous parents/relatives" "M" "yes" "Turkey" "" "0" "" "" "" "FamEPatIII2" "00443880" "" "" "00443879" "1" "" "00006" "{PMID:Chatron 2020:32282878}" "brother" "M" "yes" "Turkey" "9d" "0" "" "" "" "FamEPatIII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00038712" "00198" "00038736" "00198" "00038737" "00198" "00443879" "06906" "00443880" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04277, 06906 ## Count = 5 "{{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}}" "0000029124" "00198" "00038712" "01296" "Isolated (sporadic)" "" "see papaer; early onset hepatocellular carcinoma, genomic instability, progeroid features, ..." "" "" "" "" "" "" "" "" "" "" "" "0000029125" "00198" "00038736" "00006" "Familial, autosomal recessive" "" "see paper; early onset hepatocellular carcinoma, genomic instability, progeroid features, ..." "" "" "" "" "" "" "" "" "" "" "" "0000029126" "00198" "00038737" "00006" "Familial, autosomal recessive" "" "see paper; early onset hepatocellular carcinoma, genomic instability, progeroid features, ..." "" "" "" "" "" "" "" "" "" "" "" "0000333156" "06906" "00443879" "00006" "Familial, autosomal recessive" "16m" "see paper; ..., 1m-epileptic spasms; 2m-seizure-free; EEG at onset hypsarrhythmic; axial hypotonia, spasticity; profound intellectual disability; pes equinovarus; no omphalocele; cleft palate; joint contractures; dysmorphic facial features; MRI brain 50d-normal, CT 2m-atlanto-axial anomaly, minimal hydrocephalus" "" "" "" "" "" "" "" "" "DEE89" "West syndrome" "" "0000333157" "06906" "00443880" "00006" "Familial, autosomal recessive" "9d" "see paper; ..., 9d-deceased; 1d-myoclonic seizure; pes equinovarus; no omphalocele; cleft palate; no joint contractures; no dysmorphic facial features; cranial ultrasound germinal matrix haemorrhage" "" "" "" "" "" "" "" "" "DEE89" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000038947" "00038712" "1" "01296" "01296" "2015-05-26 10:46:04" "" "" "SEQ" "DNA" "" "" "0000038970" "00038736" "1" "00006" "00006" "2015-05-29 13:50:26" "" "" "SEQ" "DNA" "" "" "0000038971" "00038737" "1" "00006" "00006" "2015-05-29 14:02:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000445376" "00443879" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445377" "00443880" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000038947" "SPRTN" "0000038970" "SPRTN" "0000038971" "SPRTN" ## 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 = 15 "{{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}}" "0000066771" "3" "90" "1" "231488360" "231488360" "del" "0" "01296" "SPRTN_000001" "g.231488360del" "" "{PMID:Lessel 2014:25261934}, {DOI:Lessel 2014:10.1038/ng.3103}" "" "721del" "" "Germline" "yes" "" "0" "" "" "g.231352614del" "" "pathogenic" "" "0000066799" "1" "90" "1" "231483571" "231483571" "subst" "1.62927E-5" "00006" "SPRTN_000002" "g.231483571A>G" "" "{PMID:Lessel 2014:25261934}, {DOI:Lessel 2014:10.1038/ng.3103}" "" "" "" "Germline" "yes" "" "0" "" "" "g.231347825A>G" "" "pathogenic" "" "0000066800" "2" "90" "1" "231487317" "231487320" "del" "0" "00006" "SPRTN_000003" "g.231487317_231487320del" "" "{PMID:Lessel 2014:25261934}, {DOI:Lessel 2014:10.1038/ng.3103}" "" "717_718+2delAGGT" "" "Germline" "yes" "" "0" "" "" "g.231351571_231351574del" "" "pathogenic" "" "0000066801" "1" "90" "1" "231483571" "231483571" "subst" "1.62927E-5" "00006" "SPRTN_000002" "g.231483571A>G" "" "{PMID:Lessel 2014:25261934}, {DOI:Lessel 2014:10.1038/ng.3103}" "" "" "genome-wide linkage analysis and exome sequencing" "Germline" "yes" "" "0" "" "" "g.231347825A>G" "" "pathogenic" "" "0000066802" "2" "90" "1" "231487317" "231487320" "del" "0" "00006" "SPRTN_000003" "g.231487317_231487320del" "" "{PMID:Lessel 2014:25261934}, {DOI:Lessel 2014:10.1038/ng.3103}" "" "717_718+2delAGGT" "genome-wide linkage analysis and exome sequencing" "Germline" "yes" "" "0" "" "" "g.231351571_231351574del" "" "pathogenic" "" "0000276003" "0" "30" "1" "231506343" "231506343" "subst" "0.00175099" "01943" "EGLN1_000022" "g.231506343G>A" "" "" "" "EGLN1(NM_022051.2):c.1113C>T (p.R371=), EGLN1(NM_022051.3):c.1113C>T (p.R371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.231370597G>A" "" "likely benign" "" "0000344767" "0" "70" "1" "231488610" "231488610" "subst" "0" "02327" "SPRTN_000004" "g.231488610C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.231352864C>T" "" "likely pathogenic" "" "0000505904" "0" "30" "1" "231474181" "231474181" "subst" "0" "01943" "EGLN1_000025" "g.231474181C>A" "" "" "" "SPRTN(NM_001010984.3):c.52C>A (p.Q18K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.231338435C>A" "" "likely benign" "" "0000505905" "0" "10" "1" "231502244" "231502244" "dup" "0" "01943" "EGLN1_000026" "g.231502244dup" "" "" "" "EGLN1(NM_022051.2):c.1217-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.231366498dup" "" "benign" "" "0000799163" "0" "50" "1" "231473430" "231473430" "subst" "8.46998E-6" "01943" "EGLN1_000028" "g.231473430C>A" "" "" "" "EXOC8(NM_175876.4):c.62G>T (p.G21V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848582" "0" "30" "1" "231471908" "231471908" "subst" "0.00179513" "02326" "EGLN1_000030" "g.231471908A>G" "" "" "" "EXOC8(NM_175876.5):c.1584T>C (p.H528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883216" "0" "30" "1" "231506343" "231506343" "subst" "0.00175099" "02326" "EGLN1_000022" "g.231506343G>A" "" "" "" "EGLN1(NM_022051.2):c.1113C>T (p.R371=), EGLN1(NM_022051.3):c.1113C>T (p.R371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952341" "3" "50" "1" "231488695" "231488695" "subst" "4.06514E-6" "00006" "SPRTN_000005" "g.231488695G>A" "" "{PMID:Chatron 2020:32282878}" "" "NM_032018:c.1058G>A" "" "Germline" "" "" "0" "" "" "g.231352949G>A" "" "VUS" "" "0000952354" "3" "50" "1" "231488695" "231488695" "subst" "4.06514E-6" "00006" "SPRTN_000005" "g.231488695G>A" "" "{PMID:Chatron 2020:32282878}" "" "NM_032018:c.1058G>A" "" "Germline" "" "" "0" "" "" "g.231352949G>A" "" "VUS" "" "0000990954" "0" "50" "1" "231503320" "231503320" "dup" "0" "01804" "EGLN1_000033" "g.231503320dup" "" "" "" "EGLN1(NM_022051.2):c.1211dupT (p.(Thr405fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 SPRTN ## Count = 15 "{{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}}" "0000066771" "00020238" "90" "723" "0" "723" "0" "c.723del" "r.(?)" "p.(Lys241Asnfs*9)" "5" "0000066799" "00020238" "90" "350" "0" "350" "0" "c.350A>G" "r.(?)" "p.(Tyr117Cys)" "3" "0000066800" "00020238" "90" "718" "0" "718" "3" "c.718_718+3del" "r.spl" "p.?" "4_4i" "0000066801" "00020238" "90" "350" "0" "350" "0" "c.350A>G" "r.350a>g" "p.Tyr117Cys" "3" "0000066802" "00020238" "90" "718" "0" "718" "3" "c.718_718+3del" "r.[718_719ins718+4_719-1{718_718+3del}, 451_718del]" "p.[Lys239Lysfs*7,Val151Ilefs*10]" "4_4i" "0000276003" "00020238" "30" "18706" "0" "18706" "0" "c.*17236G>A" "r.(=)" "p.(=)" "" "0000344767" "00020238" "70" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(Gln325Ter)" "" "0000505904" "00020238" "30" "52" "0" "52" "0" "c.52C>A" "r.(?)" "p.(Gln18Lys)" "" "0000505905" "00020238" "10" "14607" "0" "14607" "0" "c.*13137dup" "r.(?)" "p.(=)" "" "0000799163" "00020238" "50" "-700" "0" "-700" "0" "c.-700C>A" "r.(?)" "p.(=)" "" "0000848582" "00020238" "30" "-2222" "0" "-2222" "0" "c.-2222A>G" "r.(?)" "p.(=)" "" "0000883216" "00020238" "30" "18706" "0" "18706" "0" "c.*17236G>A" "r.(=)" "p.(=)" "" "0000952341" "00020238" "50" "1058" "0" "1058" "0" "c.1058G>A" "r.(?)" "p.(Ser353Asn)" "" "0000952354" "00020238" "50" "1058" "0" "1058" "0" "c.1058G>A" "r.(?)" "p.(Ser353Asn)" "" "0000990954" "00020238" "50" "15683" "0" "15683" "0" "c.*14213dup" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000038947" "0000066771" "0000038970" "0000066799" "0000038970" "0000066800" "0000038971" "0000066801" "0000038971" "0000066802" "0000445376" "0000952341" "0000445377" "0000952354"