### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PRUNE)
# 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}}"
"PRUNE" "prune homolog (Drosophila)" "1" "q21.2" "unknown" "NC_000001.10" "UD_132456060123" "" "https://www.LOVD.nl/PRUNE1" "" "1" "13420" "58497" "617413" "1" "1" "1" "1" "NOTE: gene name changed from PRUNE to PRUNE1\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/PRUNE_codingDNA.html" "1" "" "NOTE: gene name changed from PRUNE to PRUNE1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-12-13 14:38:00" "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}}"
"00016985" "PRUNE" "prune homolog (Drosophila)" "001" "NM_021222.1" "" "NP_067045.1" "" "" "" "-136" "2841" "1362" "150980973" "151008189" "" "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"
"00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25"
"06017" "NMIHBA" "Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies" "AR" "617481" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"PRUNE" "06017"
## 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}}"
"00150212" "" "" "" "1" "" "00006" "{PMID:Karaca 2015:26539891}" "2-generation family, 1 affected, unaffected heterozugous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "26539891-FamBAB3500"
"00150213" "" "" "" "1" "" "00006" "{PMID:Karaca 2015:26539891}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "family structure in paper" "" "" "26539891-FamBAB3737"
"00150214" "" "" "" "2" "" "00006" "{PMID:Karaca 2015:26539891}" "2-generation family, 1 affected, unaffected heterozugous carrier parents" "M" "yes" "Turkey" "" "0" "family structure in paper" "" "" "26539891-FamBABSZ322"
"00150215" "" "" "" "1" "" "00006" "{PMID:Karaca 2015:26539891}" "2-generation family, affected sister/brother, unaffected carrier parents" "F;M" "no" "" "" "0" "" "" "" "26539891-FamBABSZ51"
"00177008" "" "" "" "1" "" "02552" "" "" "M" "yes" "Sri Lanka" "" "0" "" "" "" "69937"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}" "{{diseaseid}}"
"00150212" "00198"
"00150213" "00198"
"00150214" "00198"
"00150215" "00198"
"00177008" "00344"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00344, 06017
## 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}}"
"0000122614" "00198" "00150212" "00006" "Unknown" "" "intellectual diability, microcephaly, cortical atrophy, CCH, cerebellar atrophy, seizures" "" "" "" "" "" "" "" "" "" "" ""
"0000122615" "00198" "00150213" "00006" "Unknown" "" "intellectual diability, microcephaly, left frontotemporal atrophy, cerebellar atrophy, seizures" "" "" "" "" "" "" "" "" "" "" ""
"0000122616" "00198" "00150214" "00006" "Unknown" "" "intellectual diability, microcephaly, left frontotemporal atrophy, cerebellar atrophy, seizures" "" "" "" "" "" "" "" "" "" "" ""
"0000122617" "00198" "00150215" "00006" "Unknown" "" "intellectual diability, microcephaly, left frontotemporal atrophy, cerebellar atrophy, seizures" "" "" "" "" "" "" "" "" "" "" ""
"0000141825" "00344" "00177008" "02552" "Familial, autosomal recessive" "" "HP:0001252\r\nHP:0001285\r\nHP:0000278\r\nHP:0011369\r\nHP:0010332" "00y06m" "" "" "" "" "" "" "" "" "" ""
## 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}}"
"0000151067" "00150212" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000151068" "00150213" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000151069" "00150214" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000151070" "00150215" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000177900" "00177008" "1" "02552" "02552" "2018-08-16 11:07:04" "" "" "SEQ-NG-I" "DNA" "blood" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}" "{{geneid}}"
"0000151067" "PRUNE"
"0000151068" "PRUNE"
"0000151069" "PRUNE"
"0000151070" "PRUNE"
## 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}}"
"0000244233" "3" "90" "1" "150991126" "150991126" "subst" "5.28507E-5" "00006" "PRUNE_000002" "g.150991126G>A" "" "{PMID:Karaca 2015:26539891}" "" "NM_021222: c.G316A; p.D106N" "" "Germline" "" "" "0" "" "" "g.151018650G>A" "" "pathogenic" ""
"0000244234" "3" "90" "1" "150991126" "150991126" "subst" "5.28507E-5" "00006" "PRUNE_000002" "g.150991126G>A" "" "{PMID:Karaca 2015:26539891}" "" "NM_021222: c.G316A; p.D106N" "" "Germline" "" "" "0" "" "" "g.151018650G>A" "" "pathogenic" ""
"0000244235" "3" "90" "1" "150990336" "150990336" "subst" "0" "00006" "PRUNE_000001" "g.150990336G>A" "" "{PMID:Karaca 2015:26539891}" "" "NM_02122: cG88A; p.D30N" "" "Germline" "" "" "0" "" "" "g.151017860G>A" "" "pathogenic" ""
"0000244236" "1" "90" "1" "150997134" "150997134" "subst" "2.03082E-5" "00006" "PRUNE_000003" "g.150997134G>A" "" "{PMID:Karaca 2015:26539891}" "" "NM_021222: c.G383A; p.R128Q" "" "Germline" "" "" "0" "" "" "g.151024658G>A" "" "pathogenic" ""
"0000244237" "2" "90" "1" "150997271" "150997271" "subst" "0" "00006" "PRUNE_000004" "g.150997271G>T" "" "{PMID:Karaca 2015:26539891}" "" "NM_021222: c.G520T; p.G174X" "" "Germline" "" "" "0" "" "" "g.151024795G>T" "" "pathogenic" ""
"0000263736" "0" "30" "1" "151010141" "151010141" "subst" "1.96223E-5" "01943" "BNIPL_000001" "g.151010141G>A" "" "" "" "BNIPL(NM_001159642.1):c.-110+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151037665G>A" "" "likely benign" ""
"0000400776" "3" "70" "1" "150991126" "150991126" "subst" "5.28507E-5" "02552" "PRUNE_000002" "g.150991126G>A" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "yes" "" "0" "" "" "g.151018650G>A" "" "likely pathogenic (recessive)" ""
"0000503108" "0" "30" "1" "150999792" "150999792" "subst" "0.000865769" "01804" "PRUNE_000005" "g.150999792A>G" "" "" "" "PRUNE(NM_021222.1):c.763A>G (p.(Met255Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151027316A>G" "" "likely benign" ""
"0000503109" "0" "30" "1" "151006406" "151006406" "subst" "0.00358161" "01804" "BNIPL_000003" "g.151006406C>G" "" "" "" "PRUNE(NM_021222.1):c.1058C>G (p.(Pro353Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151033930C>G" "" "likely benign" ""
"0000604789" "0" "30" "1" "150990292" "150990292" "subst" "0.000879107" "01804" "PRUNE_000006" "g.150990292C>T" "" "" "" "PRUNE(NM_021222.1):c.44C>T (p.(Ser15Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151017816C>T" "" "likely benign" ""
"0000604790" "0" "70" "1" "150990336" "150990336" "subst" "0" "02327" "PRUNE_000001" "g.150990336G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151017860G>A" "" "likely pathogenic" ""
"0000653661" "0" "30" "1" "150998110" "150998110" "subst" "0.000463053" "01943" "PRUNE_000007" "g.150998110A>G" "" "" "" "PRUNE1(NM_021222.2):c.640A>G (p.I214V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151025634A>G" "" "likely benign" ""
"0000856965" "0" "50" "1" "150990304" "150990304" "subst" "0.000528056" "01943" "PRUNE_000008" "g.150990304A>G" "" "" "" "PRUNE1(NM_021222.2):c.56A>G (p.H19R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000882761" "0" "30" "1" "151006691" "151006691" "subst" "0.0143588" "01804" "BNIPL_000004" "g.151006691C>T" "" "" "" "PRUNE(NM_021222.1):c.1343C>T (p.(Ala448Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001031241" "0" "90" "1" "150991126" "150991126" "subst" "5.28507E-5" "01804" "PRUNE_000002" "g.150991126G>A" "" "" "" "PRUNE1(NM_021222.3):c.316G>A (p.(Asp106Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 PRUNE
## 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}}"
"0000244233" "00016985" "90" "316" "0" "316" "0" "c.316G>A" "r.(?)" "p.(Asp106Asn)" ""
"0000244234" "00016985" "90" "316" "0" "316" "0" "c.316G>A" "r.(?)" "p.(Asp106Asn)" ""
"0000244235" "00016985" "90" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Asp30Asn)" ""
"0000244236" "00016985" "90" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Arg128Gln)" ""
"0000244237" "00016985" "90" "520" "0" "520" "0" "c.520G>T" "r.(?)" "p.(Gly174*)" ""
"0000263736" "00016985" "30" "4793" "0" "4793" "0" "c.*3431G>A" "r.(=)" "p.(=)" ""
"0000400776" "00016985" "70" "316" "0" "316" "0" "c.316G>A" "r.(?)" "p.(Asp106Asn)" ""
"0000503108" "00016985" "30" "763" "0" "763" "0" "c.763A>G" "r.(?)" "p.(Met255Val)" ""
"0000503109" "00016985" "30" "1058" "0" "1058" "0" "c.1058C>G" "r.(?)" "p.(Pro353Arg)" ""
"0000604789" "00016985" "30" "44" "0" "44" "0" "c.44C>T" "r.(?)" "p.(Ser15Phe)" ""
"0000604790" "00016985" "70" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Asp30Asn)" ""
"0000653661" "00016985" "30" "640" "0" "640" "0" "c.640A>G" "r.(?)" "p.(Ile214Val)" ""
"0000856965" "00016985" "50" "56" "0" "56" "0" "c.56A>G" "r.(?)" "p.(His19Arg)" ""
"0000882761" "00016985" "30" "1343" "0" "1343" "0" "c.1343C>T" "r.(?)" "p.(Ala448Val)" ""
"0001031241" "00016985" "90" "316" "0" "316" "0" "c.316G>A" "r.(?)" "p.(Asp106Asn)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}" "{{variantid}}"
"0000151067" "0000244233"
"0000151068" "0000244234"
"0000151069" "0000244235"
"0000151070" "0000244236"
"0000151070" "0000244237"
"0000177900" "0000400776"