### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TIAM1) # 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}}" "TIAM1" "T-cell lymphoma invasion and metastasis 1" "21" "q22.1" "unknown" "NC_000021.8" "UD_132438847627" "" "https://www.LOVD.nl/TIAM1" "" "1" "11805" "7074" "600687" "1" "1" "1" "1" "MANE select NM_001353694.2\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2022-03-22 18:32:56" "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}}" "00001209" "TIAM1" "T-cell lymphoma invasion and metastasis 1" "001" "NM_003253.2" "" "NP_003244.2" "" "" "" "-472" "6726" "4776" "32490736" "32931290" "00000" "2012-09-13 13:18:58" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "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" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" "07023" "NEDLDS" "neurodevelopmental disorder with language delay and seizures" "AR" "619908" "" "" "" "00006" "2023-09-04 11:32:02" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TIAM1" "05611" "TIAM1" "07023" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00405810" "" "" "" "4" "" "00006" "{PMID:Lu 2022:35240055}, {DOI:Lu 2022:10.1016/j.ajhg.2022.01.020}" "4-generation family, 4 affected (4M), monozygotis twins, unaffected heterozygous carrier parents/relatives" "M" "no" "" "" "0" "" "" "" "Pat1a" "00405811" "" "" "00405810" "1" "" "00006" "{PMID:Lu 2022:35240055}, {DOI:Lu 2022:10.1016/j.ajhg.2022.01.020}" "monozygotic twin Pat1a" "M" "no" "" "" "0" "" "" "" "Pat1b" "00405812" "" "" "" "3" "" "00006" "{PMID:Lu 2022:35240055}, {DOI:Lu 2022:10.1016/j.ajhg.2022.01.020}" "4-generation family, 3 affected (F,2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "" "" "0" "" "" "" "Pat2" "00405813" "" "" "" "3" "" "00006" "{PMID:Lu 2022:35240055}, {DOI:Lu 2022:10.1016/j.ajhg.2022.01.020}" "4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "M" "yes" "" "" "0" "" "" "" "Pat3" "00405814" "" "" "" "1" "" "00006" "{PMID:Lu 2022:35240055}, {DOI:Lu 2022:10.1016/j.ajhg.2022.01.020}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "no" "" "" "0" "" "" "" "Pat4" "00436381" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "268802" "00438618" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0091" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00405810" "05611" "00405811" "05611" "00405812" "05611" "00405813" "05611" "00405814" "05611" "00436381" "00198" "00438618" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 05611, 06906, 07023 ## Count = 8 "{{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}}" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000298307" "05611" "00405810" "00006" "Familial, autosomal recessive" "35y" "see paper; ..., developmental delay; intellectual disability; delayed speech; autism; attention deficit disorder, attention deficit hyperactivity disorder; seizures; hypothyroidism, Addison’s disease" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000298308" "05611" "00405811" "00006" "Familial, autosomal recessive" "35y" "see paper; ..., developmental delay; intellectual disability; delayed speech; autism; attention deficit disorder, attention deficit hyperactivity disorder; seizures; impulsive, obsessive behavior; hypothyroidism" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000298309" "05611" "00405812" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., developmental delay; delayed speech; seizures, complex febrile seizures (abnormal EEGs); MRI brain progressive macrocephaly (secondary to chronic subdural hematoma and extra-axial fluid); axial hypotonia, appendicular hypertonia; subclinical hypothyroidism; dysmorphic features; congenital heart defect (atrial and ventricular septal defects); undescended testes" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000298310" "05611" "00405813" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., developmental delay; severe intellectual disability; no speech; seizures; MRI brain diffuse cerebral atrophy, thin corpus callosum, hypomyelination, deep cortical sulcus; hypomagnesemia; poor growth (difficulty in gaining weight); undescended testis; hirsutism" "" "" "" "" "" "" "" "" "" "global developmental delay" "" "0000298311" "05611" "00405814" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., developmental delay; severe intellectual disability; severe delayed speech; severe seizures; MRI brain hypothalamic hamartoma" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000326561" "00198" "00436381" "01164" "Unknown" "11y" "Focal-onset seizure, Neurodevelopmental delay, Short stature, Delayed puberty, Anxiety, Bilateral tonic-clonic seizure, Intellectual disability, mild, Status epilepticus, EEG abnormality, Delayed speech and language development, Motor delay" "" "" "" "" "" "" "" "" "" "NEDLDS" "" "0000328521" "06906" "00438618" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000407051" "00405810" "1" "00006" "00006" "2022-03-22 19:13:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000407052" "00405811" "1" "00006" "00006" "2022-03-22 19:13:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000407053" "00405812" "1" "00006" "00006" "2022-03-22 19:13:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000407054" "00405813" "1" "00006" "00006" "2022-03-22 19:13:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000407055" "00405814" "1" "00006" "00006" "2022-03-22 19:13:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437863" "00436381" "1" "01164" "01164" "2023-09-04 10:42:00" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000440100" "00438618" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000437863" "TIAM1" ## 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}}" "0000013947" "3" "50" "21" "32810833" "32810833" "subst" "0" "00037" "TIAM1_000001" "g.32810833G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.31438520G>C" "" "VUS" "" "0000316613" "0" "50" "21" "32617876" "32617876" "subst" "0.000104574" "01943" "TIAM1_000002" "g.32617876C>T" "" "" "" "TIAM1(NM_003253.3):c.1512G>A (p.A504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31245560C>T" "" "VUS" "" "0000316614" "0" "30" "21" "32638539" "32638539" "subst" "8.12301E-6" "01943" "TIAM1_000003" "g.32638539C>G" "" "" "" "TIAM1(NM_003253.3):c.750G>C (p.G250=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31266223C>G" "" "likely benign" "" "0000843517" "11" "90" "21" "32639222" "32639222" "subst" "0.000378359" "00006" "TIAM1_000007" "g.32639222G>A" "" "{PMID:Lu 2022:35240055}, {DOI:Lu 2022:10.1016/j.ajhg.2022.01.020}" "" "" "" "Germline" "" "" "0" "" "" "g.31266906G>A" "" "pathogenic (recessive)" "" "0000843518" "11" "90" "21" "32639222" "32639222" "subst" "0.000378359" "00006" "TIAM1_000007" "g.32639222G>A" "" "{PMID:Lu 2022:35240055}, {DOI:Lu 2022:10.1016/j.ajhg.2022.01.020}" "" "" "" "Germline" "" "" "0" "" "" "g.31266906G>A" "" "pathogenic (recessive)" "" "0000843519" "3" "90" "21" "32624486" "32624486" "subst" "8.34969E-6" "00006" "TIAM1_000006" "g.32624486C>A" "" "{PMID:Lu 2022:35240055}, {DOI:Lu 2022:10.1016/j.ajhg.2022.01.020}" "" "" "" "Germline" "" "" "0" "" "" "g.31252170C>A" "" "pathogenic (recessive)" "" "0000843520" "3" "90" "21" "32492822" "32492822" "subst" "0" "00006" "TIAM1_000004" "g.32492822G>T" "" "{PMID:Lu 2022:35240055}, {DOI:Lu 2022:10.1016/j.ajhg.2022.01.020}" "" "" "" "Germline" "" "" "0" "" "" "g.31120504G>T" "" "pathogenic (recessive)" "" "0000843521" "11" "90" "21" "32624325" "32624325" "subst" "5.28344E-5" "00006" "TIAM1_000005" "g.32624325C>G" "" "{PMID:Lu 2022:35240055}, {DOI:Lu 2022:10.1016/j.ajhg.2022.01.020}" "" "" "" "Germline" "" "" "0" "" "" "g.31252009C>G" "" "pathogenic (recessive)" "" "0000895449" "0" "50" "21" "32508292" "32508292" "subst" "1.21836E-5" "02325" "TIAM1_000008" "g.32508292G>A" "" "" "" "TIAM1(NM_003253.3):c.3842C>T (p.S1281L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933288" "0" "50" "21" "32624078" "32624078" "subst" "0" "01164" "TIAM1_000010" "g.32624078T>G" "" "" "" "" "ACMG: PS2_SUP, PM2_SUP, confirmed de novo in trio exome" "De novo" "-" "" "" "" "" "g.31251762T>G" "VCV000425274.17" "VUS" "ACMG" "0000933289" "11" "50" "21" "32492772" "32492772" "subst" "1.62537E-5" "01164" "TIAM1_000009" "g.32492772C>T" "" "" "" "" "ACMG: PM2_SUP, BP4" "Germline" "?" "" "0" "" "" "g.31120454C>T" "" "VUS" "ACMG" "0000936258" "0" "50" "21" "32639011" "32639011" "subst" "8.93437E-5" "00006" "TIAM1_000011" "g.32639011C>T" "" "{PMID:Hamdan 2017:29100083}" "" "NM_003253:c.G278A (R93Q)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000951490" "0" "50" "21" "32638679" "32638679" "subst" "0.00116142" "02325" "TIAM1_000012" "g.32638679C>T" "" "" "" "TIAM1(NM_003253.3):c.610G>A (p.E204K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951491" "0" "50" "21" "32639278" "32639278" "subst" "4.5476E-5" "02325" "TIAM1_000013" "g.32639278G>A" "" "" "" "TIAM1(NM_003253.3):c.11C>T (p.A4V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983954" "0" "50" "21" "32617947" "32617947" "subst" "4.41669E-5" "02325" "TIAM1_000014" "g.32617947C>T" "" "" "" "TIAM1(NM_003253.3):c.1441G>A (p.G481S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005645" "0" "30" "21" "32575261" "32575261" "subst" "0.00030072" "01804" "TIAM1_000015" "g.32575261A>T" "" "" "" "TIAM1(NM_003253.2):c.2456T>A (p.(Leu819His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005646" "0" "50" "21" "32638353" "32638353" "subst" "0" "01804" "TIAM1_000016" "g.32638353C>T" "" "" "" "TIAM1(NM_003253.2):c.936G>A (p.(Met312Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056986" "0" "50" "21" "32624314" "32624314" "subst" "1.62612E-5" "01804" "TIAM1_000017" "g.32624314C>G" "" "" "" "TIAM1(NM_001353694.2):c.1155G>C (p.(Glu385Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056987" "0" "50" "21" "32639222" "32639222" "subst" "0.000378359" "01804" "TIAM1_000007" "g.32639222G>A" "" "" "" "TIAM1(NM_001353694.2):c.67C>T (p.(Arg23Cys))" "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 TIAM1 ## 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}}" "0000013947" "00001209" "50" "-369" "25463" "-369" "25463" "c.-369+25463C>G" "r.(=)" "p.(=)" "" "0000316613" "00001209" "50" "1512" "0" "1512" "0" "c.1512G>A" "r.(?)" "p.(Ala504=)" "" "0000316614" "00001209" "30" "750" "0" "750" "0" "c.750G>C" "r.(?)" "p.(Gly250=)" "" "0000843517" "00001209" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23Cys)" "" "0000843518" "00001209" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23Cys)" "" "0000843519" "00001209" "90" "983" "0" "983" "0" "c.983G>T" "r.(?)" "p.(Gly328Val)" "" "0000843520" "00001209" "90" "4640" "0" "4640" "0" "c.4640C>A" "r.(?)" "p.(Ala1547Glu)" "" "0000843521" "00001209" "90" "1144" "0" "1144" "0" "c.1144G>C" "r.(?)" "p.(Gly382Arg)" "" "0000895449" "00001209" "50" "3842" "0" "3842" "0" "c.3842C>T" "r.(?)" "p.(Ser1281Leu)" "" "0000933288" "00001209" "50" "1391" "0" "1391" "0" "c.1391A>C" "r.(?)" "p.(His464Pro)" "" "0000933289" "00001209" "50" "4690" "0" "4690" "0" "c.4690G>A" "r.(?)" "p.(Gly1564Arg)" "" "0000936258" "00001209" "50" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Arg93Gln)" "" "0000951490" "00001209" "50" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Glu204Lys)" "" "0000951491" "00001209" "50" "11" "0" "11" "0" "c.11C>T" "r.(?)" "p.(Ala4Val)" "" "0000983954" "00001209" "50" "1441" "0" "1441" "0" "c.1441G>A" "r.(?)" "p.(Gly481Ser)" "" "0001005645" "00001209" "30" "2456" "0" "2456" "0" "c.2456T>A" "r.(?)" "p.(Leu819His)" "" "0001005646" "00001209" "50" "936" "0" "936" "0" "c.936G>A" "r.(?)" "p.(Met312Ile)" "" "0001056986" "00001209" "50" "1155" "0" "1155" "0" "c.1155G>C" "r.(?)" "p.(Glu385Asp)" "" "0001056987" "00001209" "50" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000000210" "0000013947" "0000407051" "0000843517" "0000407052" "0000843518" "0000407053" "0000843519" "0000407054" "0000843520" "0000407055" "0000843521" "0000437863" "0000933288" "0000437863" "0000933289" "0000440100" "0000936258"