### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PUS7) # 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}}" "PUS7" "pseudouridylate synthase 7 homolog (S. cerevisiae)" "7" "q22.3" "unknown" "NC_000007.13" "UD_133490699259" "" "https://www.LOVD.nl/PUS7" "" "1" "26033" "54517" "616261" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/PUS7_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-31 12:15:36" "00000" "2025-11-01 13:22:20" ## 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}}" "00017196" "PUS7" "pseudouridylate synthase 7 homolog (S. cerevisiae)" "001" "NM_019042.3" "" "NP_061915.2" "" "" "" "-219" "3265" "1986" "105162685" "105096958" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "05533" "MR;ID" "mental retardation (MR, intellectual disability (ID))" "" "" "" "" "" "00006" "2018-12-18 09:22:07" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06765" "IDDABS" "Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature" "AR" "618342" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PUS7" "06765" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00211173" "" "" "" "4" "" "00006" "{PMID:de Brouwer 2018:30526862}" "2-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents" "F" "yes" "Pakistan" "" "0" "" "" "" "30526862-FamPKMR215PatIV2" "00211174" "" "" "00211173" "1" "" "00006" "{PMID:de Brouwer 2018:30526862}" "brother PatIV3" "M" "yes" "Pakistan" "" "0" "" "" "" "30526862-FamPKMR215PatIV3" "00211175" "" "" "00211173" "1" "" "00006" "{PMID:de Brouwer 2018:30526862}" "brother PatIV4" "M" "yes" "Pakistan" "" "0" "" "" "" "30526862-FamPKMR215PatIV4" "00211176" "" "" "" "2" "" "00006" "{PMID:de Brouwer 2018:30526862}" "4-generation family, affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Syria" "" "0" "" "" "" "30526862-FamMR046PatIV1" "00211177" "" "" "00211176" "1" "" "00006" "{PMID:de Brouwer 2018:30526862}" "brother PatIV2" "M" "yes" "Syria" "" "0" "" "" "" "30526862-FamMR046PatIV2" "00211178" "" "" "" "1" "" "00006" "{PMID:de Brouwer 2018:30526862}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Netherlands" "" "0" "" "" "Moroccan" "30526862-FamR14-22173" "00318035" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "yes" "Pakistan" "" "0" "" "" "Siraiki" "PKMR215" "00387788" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "" "" "0" "" "" "Zaboli" "M8600480" "00412468" "" "" "" "1" "" "00006" "{PMID:Velmans 2012:34321323}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat17" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00211173" "05533" "00211174" "05533" "00211175" "05533" "00211176" "05533" "00211177" "05533" "00211178" "05533" "00318035" "00139" "00387788" "00139" "00412468" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 05533, 05611, 06765 ## Count = 9 "{{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}}" "0000159656" "05533" "00211173" "00006" "Familial, autosomal recessive" "18y" "height 140cm (<3.9SD), weight 37kg (-3.6SD), head circumference 50cm (-4.0 SD), moderate intellectual disability, no motor delay, speech delay, aggressive behaviour, no seizures, smooth philtrum, full lips (+/-), everted lower lip, hypodontia, no conical shaped teeth" "" "" "" "" "" "" "" "" "intellectual disability" "0000159657" "05533" "00211174" "00006" "Familial, autosomal recessive" "14y" "height 137cm (-3.5SD), weight 29.5kg (-3.2SD), head circumference 49cm (-3.6SD), moderate intellectual disability, no motor delay, speech delay, aggressive behaviour, no seizures, smooth philtrum, full lips (+/-), everted lower lip, no hypodontia, no conical shaped teeth" "" "" "" "" "" "" "" "" "intellectual disability" "0000159658" "05533" "00211175" "00006" "Familial, autosomal recessive" "07y" "moderate intellectual disability, no motor delay, speech delay, aggressive behaviour, no seizures" "" "" "" "" "" "" "" "" "intellectual disability" "0000159659" "05533" "00211176" "00006" "Familial, autosomal recessive" "08y" "height 104cm (-4.0SD), head circumference 46.5cm (-4.5SD), moderate intellectual disability, motor delay, speech delay, aggressive behaviour, no seizures, smooth philtrum, no full lips, no everted lower lip, no hypodontia, no conical shaped teeth, hepatomegaly; MRI brain generalized atrophy, enlargement of ventricles" "" "" "" "" "" "" "" "" "intellectual disability" "0000159660" "05533" "00211177" "00006" "Familial, autosomal recessive" "02y" "height 80cm (-2.2SD), head circumference 46cm (-2.5SD), moderate intellectual disability, motor delay, speech delay, no seizures, smooth philtrum, no full lips, no everted lower lip, no hypodontia, no conical shaped teeth" "" "" "" "" "" "" "" "" "intellectual disability" "0000159661" "05533" "00211178" "00006" "Familial, autosomal recessive" "03y03m" "height 95.5cm (-2.2SD), weight 11.5kg (-3.0SD), head circumference 46.3cm (-2.5SD), intellectual disability, motor delay, speech delay, aggressive behaviour, no seizures, smooth philtrum, full lips, everted lower lip, hypodontia, conical shaped teeth; MRI brain normal" "" "" "" "" "" "" "" "" "intellectual disability" "0000241819" "00139" "00318035" "00006" "Familial, autosomal recessive" "" "Moderate ID with speech delay and aggressive behaviour." "" "" "" "" "" "" "" "" "intellectual disability" "0000281356" "00139" "00387788" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly (SD-7.5)" "" "" "" "" "" "" "" "" "intellectual disability" "0000304470" "05611" "00412468" "00006" "Isolated (sporadic)" "10y" "macrocephaly (infancy), OFC Z+1.8; no dolichocephaly; large forehead; no epicanthal folds; deep-set eyes; no prominent nasolabial folds; full cheeks; no small ears; no finger/toe clinodactyly; developmental motor delay; developmental speech delay; no developmental regression; intellectual disability, VIQ:71, PIQ:63; no autism spectrum disorder; EEG normal; no epilepsy; no febrile seizures; no muscular hypotonia; no ADHD; no stereotypical behavior; no self-injurious behavior; no aggressive behavior; sleep disturbances; no corpus callosum hypoplasia; no ventriculomegaly; no reduced brain volume; cerebral cysts; no delayed myelination; no constipation; no gastroesophageal reflux; no vomiting; everted lower lip, low-hanging columella, pervasive developmental disorder" "" "" "" "" "" "" "" "ODLURO" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000212251" "00211173" "1" "00006" "00006" "2018-12-31 09:58:10" "00006" "2018-12-31 10:04:21" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212252" "00211174" "1" "00006" "00006" "2018-12-31 10:02:28" "" "" "SEQ" "DNA" "" "" "0000212253" "00211175" "1" "00006" "00006" "2018-12-31 10:09:11" "" "" "SEQ" "DNA" "" "" "0000212254" "00211176" "1" "00006" "00006" "2018-12-31 10:13:02" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000212255" "00211177" "1" "00006" "00006" "2018-12-31 10:19:07" "" "" "SEQ" "DNA" "" "" "0000212256" "00211178" "1" "00006" "00006" "2018-12-31 10:26:17" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000319217" "00318035" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000389019" "00387788" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000413738" "00412468" "1" "00006" "00006" "2022-06-29 09:24:48" "" "" "arrayCGH" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000212251" "PUS7" "0000212252" "PUS7" "0000212253" "PUS7" "0000212254" "PUS7" "0000212255" "PUS7" "0000212256" "PUS7" "0000319217" "PUS7" "0000389019" "PUS7" ## 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 = 18 "{{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}}" "0000443895" "3" "90" "7" "105148871" "105148872" "del" "0" "00006" "PUS7_000002" "g.105148871_105148872del" "" "{PMID:de Brouwer 2018:30526862}" "" "" "" "Germline" "yes" "" "0" "" "" "g.105508424_105508425del" "" "pathogenic (recessive)" "" "0000443896" "3" "90" "7" "105148871" "105148872" "del" "0" "00006" "PUS7_000002" "g.105148871_105148872del" "" "{PMID:de Brouwer 2018:30526862}" "" "" "" "Germline" "yes" "" "0" "" "" "g.105508424_105508425del" "" "pathogenic (recessive)" "" "0000443897" "3" "90" "7" "105148871" "105148872" "del" "0" "00006" "PUS7_000002" "g.105148871_105148872del" "" "{PMID:de Brouwer 2018:30526862}" "" "" "" "Germline" "yes" "" "0" "" "" "g.105508424_105508425del" "" "pathogenic (recessive)" "" "0000443898" "3" "90" "7" "105111185" "105111185" "subst" "4.06666E-6" "00006" "PUS7_000003" "g.105111185G>A" "" "{PMID:de Brouwer 2018:30526862}" "" "" "" "Germline" "yes" "" "0" "" "" "g.105470738G>A" "" "pathogenic (recessive)" "" "0000443899" "3" "90" "7" "105111185" "105111185" "subst" "4.06666E-6" "00006" "PUS7_000003" "g.105111185G>A" "" "{PMID:de Brouwer 2018:30526862}" "" "" "" "Germline" "yes" "" "0" "" "" "g.105470738G>A" "" "pathogenic (recessive)" "" "0000443900" "3" "90" "7" "105099614" "105099707" "del" "0" "00006" "PUS7_000004" "g.(105098365_105099614)_(105099707_105103067)del" "" "{PMID:de Brouwer 2018:30526862}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000530309" "0" "30" "7" "105148593" "105148593" "subst" "0.0162156" "01804" "PUS7_000006" "g.105148593G>A" "" "" "" "PUS7(NM_019042.3):c.367C>T (p.(His123Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105508146G>A" "" "likely benign" "" "0000677923" "0" "10" "7" "105122907" "105122907" "dup" "0" "02325" "PUS7_000008" "g.105122907dup" "" "" "" "PUS7(NM_019042.5):c.921-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000701881" "3" "50" "7" "105148871" "105148872" "del" "0" "00006" "PUS7_000002" "g.105148871_105148872del" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.105508424_105508425del" "" "VUS" "" "0000721175" "0" "30" "7" "105142896" "105142896" "subst" "5.27893E-5" "01943" "PUS7_000009" "g.105142896T>A" "" "" "" "PUS7(NM_019042.5):c.701A>T (p.Y234F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817812" "3" "90" "7" "105096960" "105148992" "del" "0" "00006" "PUS7_000010" "g.(?_105096960)_(105148992_105162498)del" "" "{PMID:Hu 2019:29302074}" "" "g.105096960_105148991del" "novel candidate disease gene" "Germline" "" "" "0" "" "" "g.(?_105456513)_(105508545_105522051)del" "" "likely pathogenic (recessive)" "" "0000871253" "0" "90" "7" "104696686" "105407628" "del" "0" "00006" "MLL5_000066" "g.(?_104696686)_(105407628_?)del" "" "{PMID:Velmans 2012:34321323}" "" "" "711 kb deletion incl. PUS7 and RINT1" "De novo" "" "" "0" "" "arr(hg19)7q22.3 (104,696,686–105,407,628) x1" "" "" "pathogenic (dominant)" "ACMG" "0000977451" "0" "50" "7" "105148577" "105148577" "subst" "0" "01804" "PUS7_000011" "g.105148577C>G" "" "" "" "PUS7(NM_019042.5):c.383G>C (p.(Gly128Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030190" "0" "70" "7" "105148698" "105148698" "dup" "0" "03779" "PUS7_000012" "g.105148698dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001036039" "0" "50" "7" "105103086" "105103086" "subst" "0.000272344" "01804" "PUS7_000013" "g.105103086C>T" "" "" "" "PUS7(NM_019042.5):c.1739G>A (p.(Arg580His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036040" "0" "30" "7" "105103202" "105103202" "subst" "0" "01804" "PUS7_000014" "g.105103202T>A" "" "" "" "PUS7(NM_019042.5):c.1628-5A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036041" "0" "30" "7" "105143006" "105143006" "subst" "4.06739E-6" "01804" "PUS7_000015" "g.105143006G>A" "" "" "" "PUS7(NM_019042.5):c.591C>T (p.(Ile197=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052778" "0" "30" "7" "105111304" "105111304" "subst" "0" "01804" "PUS7_000016" "g.105111304G>T" "" "" "" "PUS7(NM_019042.5):c.1238-9C>A" "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 PUS7 ## Count = 18 "{{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}}" "0000443895" "00017196" "90" "89" "0" "90" "0" "c.89_90del" "r.(?)" "p.(Thr30Lysfs*20)" "" "0000443896" "00017196" "90" "89" "0" "90" "0" "c.89_90del" "r.(?)" "p.(Thr30Lysfs*20)" "" "0000443897" "00017196" "90" "89" "0" "90" "0" "c.89_90del" "r.(?)" "p.(Thr30Lysfs*20)" "" "0000443898" "00017196" "90" "1348" "0" "1348" "0" "c.1348C>T" "r.(?)" "p.(Arg450*)" "" "0000443899" "00017196" "90" "1348" "0" "1348" "0" "c.1348C>T" "r.(?)" "p.(Arg450*)" "" "0000443900" "00017196" "90" "1758" "-1" "1849" "1" "c.(1757+1_1758-1)_(1849+1_1859-1)del" "r.1758_1849del" "p.Trp586*" "14i_15i" "0000530309" "00017196" "30" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(His123Tyr)" "" "0000677923" "00017196" "10" "921" "-5" "921" "-5" "c.921-5dup" "r.spl?" "p.?" "" "0000701881" "00017196" "50" "89" "0" "90" "0" "c.89_90del" "r.(?)" "p.(Thr30Lysfs*20)" "" "0000721175" "00017196" "30" "701" "0" "701" "0" "c.701A>T" "r.(?)" "p.(Tyr234Phe)" "" "0000817812" "00017196" "90" "0" "0" "0" "0" "c.(-33+1_-32-1)_*1277{0}" "r.?" "p.0?" "" "0000871253" "00017196" "90" "0" "0" "0" "0" "c.-219_*1279{0}" "r.0" "p.0" "_1_16_" "0000977451" "00017196" "50" "383" "0" "383" "0" "c.383G>C" "r.(?)" "p.(Gly128Ala)" "" "0001030190" "00017196" "70" "263" "0" "263" "0" "c.263dup" "r.(?)" "p.(Leu89ThrfsTer23)" "" "0001036039" "00017196" "50" "1739" "0" "1739" "0" "c.1739G>A" "r.(?)" "p.(Arg580His)" "" "0001036040" "00017196" "30" "1628" "-5" "1628" "-5" "c.1628-5A>T" "r.spl?" "p.?" "" "0001036041" "00017196" "30" "591" "0" "591" "0" "c.591C>T" "r.(?)" "p.(=)" "" "0001052778" "00017196" "30" "1238" "-9" "1238" "-9" "c.1238-9C>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000212251" "0000443896" "0000212252" "0000443895" "0000212253" "0000443897" "0000212254" "0000443898" "0000212255" "0000443899" "0000212256" "0000443900" "0000319217" "0000701881" "0000389019" "0000817812" "0000413738" "0000871253"