### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = OTUD7A) # 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}}" "OTUD7A" "OTU domain containing 7A" "15" "q13.1" "unknown" "NC_000015.9" "UD_132319888114" "" "https://www.LOVD.nl/OTUD7A" "" "1" "20718" "161725" "612024" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-08-11 09:13:38" "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}}" "00025728" "OTUD7A" "transcript variant 3" "000" "NM_001382637.1" "" "NP_001369566.1" "" "" "" "-266" "10698" "2802" "32162876" "31767601" "00006" "2022-08-11 09:12:36" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00212" "SCZD" "schizophrenia (SCZD)" "AD" "181500" "" "" "" "00006" "2013-09-24 21:08:12" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## 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}}" "00415293" "" "" "" "1" "" "00006" "{PMID:Kozlova 2022:35931052}, {DOI:Kozlova 2022:10.1016/j.ajhg.2022.07.001}" "" "F" "" "United States" "" "0" "" "" "" "06C58462" "00415294" "" "" "" "1" "" "00006" "{PMID:Kozlova 2022:35931052}, {DOI:Kozlova 2022:10.1016/j.ajhg.2022.07.001}" "" "M" "" "United States" "" "0" "" "" "" "06C55679" "00415295" "" "" "" "1" "" "00006" "{PMID:Kozlova 2022:35931052}, {DOI:Kozlova 2022:10.1016/j.ajhg.2022.07.001}" "" "M" "" "United States" "" "0" "" "" "" "05C51954" "00415305" "" "" "" "1" "" "00006" "{PMID:Suzuki 2021:33381903}, {DOI:Suzuki 2021:10.1002/ajmg.a.62054}" "2 generation family, 1 affected, unaffected non carrier parents" "M" "no" "Japan" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00415293" "00212" "00415294" "00212" "00415295" "00212" "00415305" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00212, 05611 ## 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}}" "0000307089" "00212" "00415293" "00006" "Unknown" "54y" "schizophrenia, depressive disorder NOS; completed 9th grade; COPD; hypothyroidism; migraines; stomach ulcers; unspecified learning disorder or hyperactivity" "20y" "" "schizophrenia" "" "" "" "" "" "" "0000307091" "00212" "00415294" "00006" "Unknown" "52y" "schizophrenia; bipolar disorder NOS, amphetamine abuse; completed 12th grade, high school graduate; insulin dependent diabetes mellitus, hepatitis C, hypercholesterolemia, hypothyroidism" "22y" "" "schizophrenia" "" "" "" "" "" "schizophrenia" "0000307092" "00212" "00415295" "00006" "Unknown" "53y" "schizophrenia; alcohol dependence, cocaine dependence; completed 10th grade, later got a GED; hepatitis C, appendectomy, pancreatitis, hernia, born Rh factor positive" "19y" "" "schizophrenia" "" "" "" "" "" "schizophrenia" "0000307102" "05611" "00415305" "00006" "Isolated (sporadic)" "03y" "see paper; ..., muscular hypotonia, severe intellectual disability, seizures" "" "" "" "" "" "" "" "" "global developmental delay" ## 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}}" "0000416573" "00415293" "1" "00006" "00006" "2022-08-11 09:29:56" "" "" "SEQ" "DNA" "" "" "0000416575" "00415294" "1" "00006" "00006" "2022-08-11 09:34:23" "" "" "SEQ" "DNA" "" "" "0000416576" "00415295" "1" "00006" "00006" "2022-08-11 09:38:05" "" "" "SEQ" "DNA" "" "" "0000416586" "00415305" "1" "00006" "00006" "2022-08-11 10:30:52" "" "" "SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000416573" "OTUD7A" "0000416575" "OTUD7A" "0000416576" "OTUD7A" ## 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 = 13 "{{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}}" "0000874712" "0" "90" "15" "31862287" "31862287" "subst" "8.12321E-6" "00006" "OTUD7A_000003" "g.31862287G>A" "" "{PMID:Kozlova 2022:35931052}, {DOI:Kozlova 2022:10.1016/j.ajhg.2022.07.001}" "" "" "" "Germline/De novo (untested)" "" "rs757148409" "0" "" "" "g.31570084G>A" "" "likely pathogenic" "" "0000874713" "0" "90" "15" "31851316" "31851316" "subst" "0" "00006" "OTUD7A_000004" "g.31851316C>A" "" "{PMID:Kozlova 2022:35931052}, {DOI:Kozlova 2022:10.1016/j.ajhg.2022.07.001}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31559113C>A" "" "likely pathogenic" "" "0000874714" "0" "70" "15" "31776817" "31776825" "del" "0" "00006" "OTUD7A_000005" "g.31776817_31776825del" "" "{PMID:Kozlova 2022:35931052}, {DOI:Kozlova 2022:10.1016/j.ajhg.2022.07.001}" "" "1465_1469delAACGG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31484614_31484622del" "" "likely pathogenic" "" "0000874728" "0" "90" "15" "31793919" "31793919" "del" "0" "00006" "OTUD7A_000006" "g.31793919del" "" "{PMID:Suzuki 2021:33381903}, {DOI:Suzuki 2021:10.1002/ajmg.a.62054}" "" "g.31793918del, p.(Glu375Aspfs*11)" "" "De novo" "" "" "0" "" "" "g.31501716del" "" "pathogenic" "" "0000874729" "0" "90" "15" "30921917" "32539666" "del" "0" "00006" "OTUD7A_000007" "g.(30900000_30921917)_(32539666_32600000)del" "" "{PMID:Suzuki 2021:33381903}, {DOI:Suzuki 2021:10.1002/ajmg.a.62054}" "" "hg19 30,921,917_32,539,666del" "1.6Mb deletion of 15q13.3 incl. OTUD7A" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000891998" "0" "70" "15" "31775773" "31775800" "del" "0" "02327" "OTUD7A_000008" "g.31775773_31775800del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000891999" "0" "50" "15" "31776276" "31776276" "subst" "0" "02325" "OTUD7A_000009" "g.31776276C>T" "" "" "" "OTUD7A(NM_130901.3):c.2002G>A (p.E668K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925954" "0" "50" "15" "31851176" "31851176" "subst" "0" "02325" "OTUD7A_000010" "g.31851176C>G" "" "" "" "OTUD7A(NM_130901.3):c.546G>C (p.Q182H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981148" "0" "30" "15" "31793796" "31793796" "dup" "0" "01804" "OTUD7A_000011" "g.31793796dup" "" "" "" "OTUD7A(NM_001329907.2):c.1274dup (p.(*426Leufs*?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981149" "0" "30" "15" "31793850" "31793850" "subst" "1.63204E-5" "01804" "OTUD7A_000012" "g.31793850C>G" "" "" "" "OTUD7A(NM_001329907.2):c.1214G>C (p.(Trp405Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001283" "0" "50" "15" "31776185" "31776185" "subst" "0" "01804" "OTUD7A_000013" "g.31776185G>A" "" "" "" "OTUD7A(NM_130901.1):c.2093C>T (p.(Pro698Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040266" "0" "50" "15" "31775920" "31775920" "del" "0" "01804" "OTUD7A_000014" "g.31775920del" "" "" "" "OTUD7A(NM_001382637.1):c.2380del (p.(Ala794Profs*193))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040267" "0" "50" "15" "31823009" "31823009" "subst" "0.000236422" "01804" "OTUD7A_000015" "g.31823009G>A" "" "" "" "OTUD7A(NM_001382637.1):c.553C>T (p.(Arg185Cys))" "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 OTUD7A ## Count = 13 "{{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}}" "0000874712" "00025728" "90" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(Arg89Ter)" "" "0000874713" "00025728" "90" "406" "0" "406" "0" "c.406G>T" "r.(?)" "p.(Glu136Ter)" "" "0000874714" "00025728" "70" "1474" "0" "1482" "0" "c.1474_1482del" "r.(?)" "p.(Ser492_Ser494del)" "" "0000874728" "00025728" "90" "1146" "0" "1146" "0" "c.1146del" "r.(?)" "p.(Glu382Aspfs*11)" "" "0000874729" "00025728" "90" "0" "0" "0" "0" "c.-266_*7896{0}" "r.0" "p.0" "_1_13_" "0000891998" "00025728" "70" "2505" "0" "2532" "0" "c.2505_2532del" "r.(?)" "p.(Ala836Argfs*142)" "" "0000891999" "00025728" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Glu675Lys)" "" "0000925954" "00025728" "50" "546" "0" "546" "0" "c.546G>C" "r.(?)" "p.(Gln182His)" "" "0000981148" "00025728" "30" "1171" "103" "1171" "103" "c.1171+103dup" "r.(=)" "p.(=)" "" "0000981149" "00025728" "30" "1171" "43" "1171" "43" "c.1171+43G>C" "r.(=)" "p.(=)" "" "0001001283" "00025728" "50" "2114" "0" "2114" "0" "c.2114C>T" "r.(?)" "p.(Pro705Leu)" "" "0001040266" "00025728" "50" "2380" "0" "2380" "0" "c.2380del" "r.(?)" "p.(Ala794Profs*193)" "" "0001040267" "00025728" "50" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Arg185Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000416573" "0000874712" "0000416575" "0000874713" "0000416576" "0000874714" "0000416586" "0000874728" "0000416586" "0000874729"