### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = KIAA0391)
# 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}}"
"KIAA0391" "KIAA0391" "14" "q13.2" "unknown" "NC_000014.8" "UD_136022218939" "" "https://www.LOVD.nl/PRORP" "" "1" "19958" "9692" "609947" "1" "1" "1" "1" "NOTE: gene name changed from KIAA0391 to PRORP\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/KIAA0391_codingDNA.html" "1" "NOTE: gene name changed from KIAA0391 to PRORP" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-11-07 10:09:16" "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}}"
"00010497" "KIAA0391" "transcript variant 1" "001" "NM_014672.3" "" "NP_055487.2" "" "" "" "-609" "2264" "1752" "35591527" "35743284" "" "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}}"
"00616" "PRLTS" "Perrault syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-06 10:12:39"
"04294" "SNHL" "hearing loss, sensorineural (SNHL)" "" "" "" "" "" "00006" "2015-06-22 12:14:54" "00006" "2015-10-23 11:42:37"
"05786" "leukoencephalopathy" "leukoencephalopathy" "" "" "" "" "" "00006" "2020-07-13 16:56:51" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Individuals ## Do not remove or alter this header ##
## Count = 4
"{{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}}"
"00388711" "" "" "" "3" "" "00006" "{PMID:Hochbeg 2021:34715011}" "4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "" "" "0" "" "" "" "Fam1"
"00388712" "" "" "" "1" "" "00006" "{PMID:Hochbeg 2021:34715011}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam2"
"00388713" "" "" "" "1" "" "00006" "{PMID:Hochbeg 2021:34715011}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam3"
"00388714" "" "" "" "3" "" "00006" "{PMID:Hochbeg 2021:34715011}" "2-generation family, 3 affected (mother, son, daugther) , unaffected heterozygous carrier father" "M" "yes" "" "" "0" "" "" "" "Fam4PatII1"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{individualid}}" "{{diseaseid}}"
"00388711" "00616"
"00388712" "04294"
"00388713" "04294"
"00388714" "05786"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00616, 04294, 05786
## Count = 4
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}"
"0000282251" "00616" "00388711" "00006" "Familial, autosomal recessive" "" "sensorineural hearing loss, primary ovarian insufficiency," "" "" "" "" "" "" "" "" "Perrault syndrome"
"0000282252" "04294" "00388712" "00006" "Familial, autosomal recessive" "" "sensorineural hearing loss" "" "" "" "" "" "" "" "" "hearing loss"
"0000282253" "04294" "00388713" "00006" "Familial, autosomal recessive" "" "childhood onset sensorineural hearing loss, lactic acidosis, leukoencephalopathy" "" "" "" "" "" "" "" "" "sensorineural hearing loss"
"0000282254" "05786" "00388714" "00006" "Familial, autosomal recessive" "19y" "leukoencephalopathy; 7y-psychotic disorder, autistic traits, learning disability; 8y-brief generalized seizures consisting of loss of consciousness and generalized stiffening body and extremities, EEG normal, received treatment with levetiracetam (good response; 19y-obesity, genu valgus, talus valgus, fundoscopy papillary pallor" "" "" "" "" "" "" "" "" "leukoencephalopathy"
## Screenings ## Do not remove or alter this header ##
## Count = 4
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000389953" "00388711" "1" "00006" "00006" "2021-11-07 10:21:24" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WES"
"0000389954" "00388712" "1" "00006" "00006" "2021-11-07 10:21:24" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WES"
"0000389956" "00388713" "1" "00006" "00006" "2021-11-07 10:21:24" "00006" "2021-11-07 10:41:17" "arrayCGH;RT-PCR;SEQ;SEQ-NG" "DNA" "" "WES"
"0000389957" "00388714" "1" "00006" "00006" "2021-11-07 10:21:24" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 0
## 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 = 12
"{{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}}"
"0000306244" "0" "50" "14" "35585830" "35585830" "subst" "1.28599E-5" "01943" "PPP2R3C_000001" "g.35585830G>A" "" "" "" "PPP2R3C(NM_017917.3):c.172C>T (p.R58W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35116624G>A" "" "VUS" ""
"0000819296" "3" "90" "14" "35739636" "35739636" "subst" "0" "00006" "KIAA0391_000001" "g.35739636C>T" "" "{PMID:Hochbeg 2021:34715011}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000819297" "11" "90" "14" "35735958" "35735958" "subst" "0.000589282" "00006" "KIAA0391_000002" "g.35735958C>A" "" "{PMID:Hochbeg 2021:34715011}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000819298" "21" "90" "14" "35649943" "35649943" "subst" "0.000122069" "00006" "KIAA0391_000003" "g.35649943A>G" "" "{PMID:Hochbeg 2021:34715011}" "" "1253A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000819299" "11" "90" "14" "35649905" "35649905" "dup" "0" "00006" "KIAA0391_000004" "g.35649905dup" "" "{PMID:Hochbeg 2021:34715011}" "" "1197dupA" "nonsense-mediated decay of transcript" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000819301" "21" "90" "14" "35735991" "35735991" "subst" "2.43675E-5" "00006" "KIAA0391_000005" "g.35735991G>A" "" "{PMID:Hochbeg 2021:34715011}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000819302" "3" "90" "14" "35649969" "35649969" "subst" "0.00013874" "00006" "KIAA0391_000006" "g.35649969C>T" "" "{PMID:Hochbeg 2021:34715011}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000967485" "0" "50" "14" "35568486" "35568488" "del" "0" "02325" "KIAA0391_000007" "g.35568486_35568488del" "" "" "" "PPP2R3C(NM_017917.4):c.684_686delCTT (p.F229del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980888" "0" "30" "14" "35593137" "35593137" "subst" "0.00204383" "01804" "KIAA0391_000008" "g.35593137C>T" "" "" "" "PRORP(NM_014672.4):c.686C>T (p.(Ala229Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001015153" "0" "50" "14" "35593133" "35593133" "subst" "0.000430719" "02327" "KIAA0391_000009" "g.35593133G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039951" "0" "50" "14" "35593251" "35593251" "subst" "3.2533E-5" "01804" "KIAA0391_000010" "g.35593251A>G" "" "" "" "PRORP(NM_014672.4):c.800A>G (p.(Tyr267Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039952" "0" "50" "14" "35736029" "35736029" "subst" "0.000162429" "01804" "KIAA0391_000011" "g.35736029G>A" "" "" "" "PRORP(NM_014672.4):c.1372G>A (p.(Asp458Asn))" "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 KIAA0391
## Count = 12
"{{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}}"
"0000306244" "00010497" "50" "-6306" "0" "-6306" "0" "c.-6306G>A" "r.(?)" "p.(=)" ""
"0000819296" "00010497" "90" "1454" "0" "1454" "0" "c.1454C>T" "r.(?)" "p.(Ala485Val)" ""
"0000819297" "00010497" "90" "1301" "0" "1301" "0" "c.1301C>A" "r.(?)" "p.(Ala434Asp)" ""
"0000819298" "00010497" "90" "1235" "0" "1235" "0" "c.1235A>G" "r.(?)" "p.(Asn412Ser)" ""
"0000819299" "00010497" "90" "1197" "0" "1197" "0" "c.1197dup" "r.0" "p.0" ""
"0000819301" "00010497" "90" "1334" "0" "1334" "0" "c.1334G>A" "r.1334g>a" "p.Arg445Gln" ""
"0000819302" "00010497" "90" "1261" "0" "1261" "0" "c.1261C>T" "r.(?)" "p.(Arg421Cys)" ""
"0000967485" "00010497" "50" "-23650" "0" "-23648" "0" "c.-23650_-23648del" "r.(?)" "p.(=)" ""
"0000980888" "00010497" "30" "686" "0" "686" "0" "c.686C>T" "r.(?)" "p.(Ala229Val)" ""
"0001015153" "00010497" "50" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Glu228Lys)" ""
"0001039951" "00010497" "50" "800" "0" "800" "0" "c.800A>G" "r.(?)" "p.(Tyr267Cys)" ""
"0001039952" "00010497" "50" "1372" "0" "1372" "0" "c.1372G>A" "r.(?)" "p.(Asp458Asn)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}" "{{variantid}}"
"0000389953" "0000819296"
"0000389954" "0000819297"
"0000389954" "0000819298"
"0000389956" "0000819299"
"0000389956" "0000819301"
"0000389957" "0000819302"