### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TACC2) # 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}}" "TACC2" "transforming, acidic coiled-coil containing protein 2" "10" "q26" "unknown" "NG_029948.2" "UD_132368915080" "" "https://www.LOVD.nl/TACC2" "" "1" "11523" "10579" "605302" "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/TACC2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-16 19:32:52" "00006" "2025-01-13 14:37:57" ## 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}}" "00025374" "TACC2" "transcript variant 1" "001" "NM_206862.2" "" "NP_996744.2" "" "" "" "-360" "9333" "8847" "123748689" "124014057" "00006" "2019-02-16 19:28:00" "" "" ## 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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05476" "SEMDSP" "dysplasia, spondyloepimetaphyseal, SPONASTRIME type (SEMDSP)" "AR" "271510" "" "autosomal recesive" "" "00006" "2018-10-20 03:14:40" "00006" "2020-05-19 10:37:38" "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}}" "00050476" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00225433" "" "" "" "2" "" "00006" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "no" "Korea, South (Republic)" "" "0" "" "" "" "-Fam1Pat1/2" "00426196" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "M" "yes" "Oman" "" "0" "" "" "" "10BN7500" "00459539" "" "" "" "1" "" "00006" "{PMID:Szczałuba 2018:30238967}, {PMID:Chmielewska 2024:34527963}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Poland" "" "0" "" "" "" "patient;PatB" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00050476" "00198" "00225433" "05476" "00426196" "00139" "00459539" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05476, 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/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037088" "00198" "00050476" "00006" "Unknown" "" "clinodactyly of the 5th finger, specific learning disability, joint hypermobility, lumbar hyperlordosis, gingival overgrowth" "" "" "" "" "" "" "" "" "" "" "" "0000170548" "05476" "00225433" "00006" "Familial, autosomal recessive" "7y9m" "see paper; …" "" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "" "0000317346" "00139" "00426196" "00006" "Familial, autosomal recessive" "13y" "Intellectual disability" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000347616" "05611" "00459539" "00006" "Isolated (sporadic)" "05y" "see paper; ..., pregnancy complicated by maternal kidney stones, hyperemesis; birth-37w cesarean section, weight 3580g (75th), length 56cm (50th), OFC 34cm (25th-50th); no congenital anomalies, no dysmorphic features; feeding difficulties, constipation, frequent infections, slightly raised body temperature, allergy to cow\'s milk; intellectual disability; developmental delay, autistic features; hypotonia; increased immunoglobulin E; 13m-delayed teeth eruption; neurologic sensory; MRI normal non-contrast; no muskuloskeletal anomalies; no cardiac anomalies" "" "" "" "" "" "" "" "" "" "neurodevelopmental 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}}" "0000050421" "00050476" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000226512" "00225433" "1" "00006" "00006" "2019-02-16 13:40:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000427516" "00426196" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461165" "00459539" "1" "00006" "00006" "2025-01-09 09:19:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000226512" "TONSL" ## 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 = 19 "{{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}}" "0000079401" "0" "90" "10" "123150811" "135380935" "dup" "0" "00006" "ACADSB_000015" "g.123150811_135380935dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000316187" "0" "10" "10" "123843357" "123843357" "subst" "0.00441457" "01943" "TACC2_000002" "g.123843357G>T" "" "" "" "TACC2(NM_206862.3):c.1342G>T (p.A448S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122083842G>T" "" "benign" "" "0000458820" "21" "50" "10" "123843210" "123843210" "subst" "0.00199528" "00006" "TACC2_000001" "g.123843210G>A" "" "{DOI:Reynhout 2019:10.1016/j.ajhg.2019.01.009}" "" "" "" "Germline" "" "" "0" "" "" "g.122083695G>A" "" "VUS" "" "0000458821" "11" "50" "10" "123845455" "123845455" "subst" "0.000199703" "00006" "TACC2_000003" "g.123845455C>T" "" "{DOI:Reynhout 2019:10.1016/j.ajhg.2019.01.009}" "" "" "" "Germline" "" "" "0" "" "" "g.122085940C>T" "" "VUS" "" "0000539436" "0" "30" "10" "123842510" "123842510" "subst" "0" "01943" "TACC2_000004" "g.123842510A>G" "" "" "" "TACC2(NM_206862.3):c.495A>G (p.Q165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122082995A>G" "" "likely benign" "" "0000539437" "0" "30" "10" "123903164" "123903164" "subst" "4.06105E-6" "01943" "TACC2_000005" "g.123903164G>A" "" "" "" "TACC2(NM_206862.3):c.5777G>A (p.G1926D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122143649G>A" "" "likely benign" "" "0000622350" "0" "30" "10" "123847214" "123847214" "subst" "1.635E-5" "01943" "TACC2_000006" "g.123847214C>T" "" "" "" "TACC2(NM_206862.3):c.5199C>T (p.F1733=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122087699C>T" "" "likely benign" "" "0000861847" "0" "50" "10" "123846625" "123846625" "subst" "2.08021E-5" "01943" "TACC2_000007" "g.123846625C>T" "" "" "" "TACC2(NM_206862.3):c.4610C>T (p.A1537V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000904876" "3" "70" "10" "123997042" "123997042" "subst" "2.85276E-5" "00006" "TACC2_000008" "g.123997042G>A" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "reported as candidate disease gene" "Germline" "" "rs538968585" "0" "" "" "g.122237527G>A" "" "VUS" "" "0000978930" "0" "30" "10" "123844643" "123844643" "subst" "0.000690439" "01804" "TACC2_000009" "g.123844643T>G" "" "" "" "TACC2(NM_206862.4):c.2628T>G (p.(His876Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978931" "0" "30" "10" "123846060" "123846060" "subst" "3.74146E-5" "01804" "TACC2_000010" "g.123846060A>G" "" "" "" "TACC2(NM_206862.4):c.4045A>G (p.(Thr1349Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978932" "0" "30" "10" "123846190" "123846190" "subst" "0.000747775" "01804" "TACC2_000011" "g.123846190T>G" "" "" "" "TACC2(NM_206862.4):c.4175T>G (p.(Val1392Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998172" "0" "30" "10" "123843279" "123843279" "subst" "0" "01804" "TACC2_000012" "g.123843279C>T" "" "" "" "TACC2(NM_206862.2):c.1264C>T (p.(Leu422Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998173" "0" "30" "10" "123845650" "123845650" "subst" "4.06901E-6" "01804" "TACC2_000013" "g.123845650C>G" "" "" "" "TACC2(NM_206862.2):c.3635C>G (p.(Thr1212Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998174" "0" "30" "10" "123846535" "123846535" "subst" "0.000341636" "01804" "TACC2_000014" "g.123846535G>A" "" "" "" "TACC2(NM_206862.2):c.4520G>A (p.(Arg1507Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998175" "0" "30" "10" "123971096" "123971096" "subst" "4.06243E-5" "01804" "TACC2_000015" "g.123971096A>G" "" "" "" "TACC2(NM_206862.2):c.7156A>G (p.(Lys2386Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998176" "0" "50" "10" "123989893" "123989893" "subst" "1.21819E-5" "01804" "TACC2_000016" "g.123989893A>T" "" "" "" "TACC2(NM_206862.2):c.8065A>T (p.(Ile2689Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001020729" "1" "70" "10" "123845149" "123845149" "subst" "0.00205967" "00006" "TACC2_000017" "g.123845149C>T" "" "{PMID:Szczałuba 2018:30238967}" "" "" "" "Germline" "" "rs143377886" "0" "" "" "g.122085634C>T" "" "likely benign" "" "0001020730" "2" "70" "10" "123844710" "123844710" "subst" "2.03128E-5" "00006" "TACC2_000018" "g.123844710T>A" "" "{PMID:Szczałuba 2018:30238967}" "" "" "" "Germline" "" "rs369006789" "0" "" "" "g.122085195T>A" "" "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 TACC2 ## Count = 19 "{{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}}" "0000079401" "00025374" "00" "-598238" "0" "8388607" "0" "c.-598238_*11367364dup" "r.0?" "p.0?" "" "0000316187" "00025374" "10" "1342" "0" "1342" "0" "c.1342G>T" "r.(?)" "p.(Ala448Ser)" "" "0000458820" "00025374" "50" "1195" "0" "1195" "0" "c.1195G>A" "r.(?)" "p.(Gly399Arg)" "" "0000458821" "00025374" "50" "3440" "0" "3440" "0" "c.3440C>T" "r.(?)" "p.(Pro1147Leu)" "" "0000539436" "00025374" "30" "495" "0" "495" "0" "c.495A>G" "r.(?)" "p.(Gln165=)" "" "0000539437" "00025374" "30" "5777" "0" "5777" "0" "c.5777G>A" "r.(?)" "p.(Gly1926Asp)" "" "0000622350" "00025374" "30" "5199" "0" "5199" "0" "c.5199C>T" "r.(?)" "p.(Phe1733=)" "" "0000861847" "00025374" "50" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Ala1537Val)" "" "0000904876" "00025374" "70" "8260" "0" "8260" "0" "c.8260G>A" "r.(?)" "p.(Ala2754Thr)" "" "0000978930" "00025374" "30" "2628" "0" "2628" "0" "c.2628T>G" "r.(?)" "p.(His876Gln)" "" "0000978931" "00025374" "30" "4045" "0" "4045" "0" "c.4045A>G" "r.(?)" "p.(Thr1349Ala)" "" "0000978932" "00025374" "30" "4175" "0" "4175" "0" "c.4175T>G" "r.(?)" "p.(Val1392Gly)" "" "0000998172" "00025374" "30" "1264" "0" "1264" "0" "c.1264C>T" "r.(?)" "p.(Leu422Phe)" "" "0000998173" "00025374" "30" "3635" "0" "3635" "0" "c.3635C>G" "r.(?)" "p.(Thr1212Arg)" "" "0000998174" "00025374" "30" "4520" "0" "4520" "0" "c.4520G>A" "r.(?)" "p.(Arg1507Gln)" "" "0000998175" "00025374" "30" "7156" "0" "7156" "0" "c.7156A>G" "r.(?)" "p.(Lys2386Glu)" "" "0000998176" "00025374" "50" "8065" "0" "8065" "0" "c.8065A>T" "r.(?)" "p.(Ile2689Leu)" "" "0001020729" "00025374" "70" "3134" "0" "3134" "0" "c.3134C>T" "r.(3134C>T)" "p.(Pro1045Leu)" "" "0001020730" "00025374" "70" "2695" "0" "2695" "0" "c.2695T>A" "r.(2695T>A)" "p.(Ser899Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000050421" "0000079401" "0000226512" "0000458820" "0000226512" "0000458821" "0000427516" "0000904876" "0000461165" "0001020729" "0000461165" "0001020730"