### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GTF2I) # 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}}" "GTF2I" "general transcription factor IIi" "7" "q11.23" "unknown" "NC_000007.13" "UD_132085395866" "" "https://www.LOVD.nl/GTF2I" "" "1" "4659" "2969" "601679" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/GTF2I_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-12-27 14:32:22" "00000" "2026-01-20 18:57:21" ## 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}}" "00026045" "GTF2I" "transcript variant 1" "001" "NM_032999.3" "" "NP_127492.1" "" "" "" "-409" "4159" "2997" "74071991" "74175022" "00006" "2025-12-27 14:45:19" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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 = 1 "{{geneid}}" "{{diseaseid}}" "GTF2I" "05611" ## 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}}" "00471539" "" "" "" "1" "" "00006" "{PMID:Jury 2025:40962490}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "France" "" "0" "" "" "" "Pat1" "00471540" "" "" "" "1" "" "00006" "{PMID:Jury 2025:40962490}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "France" "" "0" "" "" "" "Pat2" "00471541" "" "" "" "1" "" "00006" "{PMID:Jury 2025:40962490}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "France" "" "0" "" "" "" "Pat3" "00471542" "" "" "" "1" "" "00006" "{PMID:Jury 2025:40962490}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat4" "00471543" "" "" "" "1" "" "00006" "{PMID:Jury 2025:40962490}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat5" "00471544" "" "" "" "1" "" "00006" "{PMID:Jury 2025:40962490}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat6" "00471545" "" "" "" "1" "" "00006" "{PMID:Jury 2025:40962490}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "France" "" "0" "" "" "" "Pat7" "00471546" "" "" "" "1" "" "00006" "{PMID:Jury 2025:40962490}" "patient" "M" "" "" "" "0" "" "" "" "Pat8" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00471539" "05611" "00471540" "05611" "00471541" "05611" "00471542" "05611" "00471543" "05611" "00471544" "05611" "00471545" "05611" "00471546" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000356346" "05611" "00471539" "00006" "Isolated (sporadic)" "8y9m" "see paper; ..., mild global developmental dealy (HP:0001263); no gross motor delay (-HP:0002194); no speech delay (-HP:0000750); learning or intellectual disability (HP:0001249); normal social behaviour (-HP:0012433); no autistic behaviour (-HP:0000729), no ADHD; dysmorphic facial features (HP:0001999), periorbital fullness, full lips,low set ears; congenital heart defect (HP:0001627); no seizures (-HP:0001250)" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000356347" "05611" "00471540" "00006" "Isolated (sporadic)" "5y9m" "see paper; ..., severe global developmental dealy (HP:0001263); gross motor delay (HP:0002194); speech delay (HP:0000750); learning or intellectual disability (HP:0001249); abnormal social behaviour (HP:0012433); autistic behaviour (HP:0000729)/ADHD; dysmorphic facial features (HP:0001999), bulbous nose,everted lower lip,large ears, sagging cheeks; no congenital heart defect (-HP:0001627); no seizures (-HP:0001250)" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000356348" "05611" "00471541" "00006" "Isolated (sporadic)" "5y2m" "see paper; ..., moderate global developmental dealy (HP:0001263); gross motor delay (HP:0002194); speech delay (HP:0000750); learning or intellectual disability (HP:0001249); abnormal social behaviour (HP:0012433); autistic behaviour (HP:0000729)/ADHD; dysmorphic facial features (HP:0001999), mild malar hypoplasia, overfolded pinnae with flattened helix, mild epicanthus, small chin; no congenital heart defect (-HP:0001627); no seizures (-HP:0001250)" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000356349" "05611" "00471542" "00006" "Isolated (sporadic)" "5y10m" "see paper; ..., mild global developmental dealy (HP:0001263); no gross motor delay (-HP:0002194); speech delay (HP:0000750); learning or intellectual disability (HP:0001249); normal social behaviour (-HP:0012433); no autistic behaviour (-HP:0000729), no ADHD; dysmorphic facial features (HP:0001999), prominent metopic ridge, arched eyebrows, synophrys, mildly downslanting palpebral fissures, small mouth, thin lips, high arched palate, protruding ears; no congenital heart defect (-HP:0001627); no seizures (-HP:0001250)" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000356350" "05611" "00471543" "00006" "Isolated (sporadic)" "6y" "see paper; ..., mild global developmental dealy (HP:0001263); no gross motor delay (-HP:0002194); speech delay (HP:0000750); learning or intellectual disability (HP:0001249); abnormal social behaviour (HP:0012433); autistic behaviour (HP:0000729)/ADHD; dysmorphic facial features (HP:0001999), high anterior hairline, diffusely sparse and curly hair, periorbital fullness, mild epicanthal folds, broad nasal bridge with prominent nasal tip, full lower lip; no congenital heart defect (-HP:0001627); seizures (HP:0001250)" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000356351" "05611" "00471544" "00006" "Isolated (sporadic)" "16y" "see paper; ..., mild global developmental dealy (HP:0001263); no gross motor delay (-HP:0002194); speech delay (HP:0000750); learning or intellectual disability (HP:0001249); abnormal social behaviour (HP:0012433); no autistic behaviour (-HP:0000729), no ADHD; dysmorphic facial features (HP:0001999); 4y-stellate iris, thin upperlip, high palate; no congenital heart defect (-HP:0001627); no seizures (-HP:0001250)" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000356352" "05611" "00471545" "00006" "Isolated (sporadic)" "4y" "see paper; ..., mild global developmental dealy (HP:0001263); no gross motor delay (-HP:0002194); speech delay (HP:0000750); learning or intellectual disability (HP:0001249); abnormal social behaviour (HP:0012433); autistic behaviour (HP:0000729)/ADHD; dysmorphic facial features (HP:0001999), evertedlower lip, full lower lip; no congenital heart defect (-HP:0001627); no seizures (-HP:0001250)" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000356353" "05611" "00471546" "00006" "Isolated (sporadic)" "30y" "see paper; ..., moderate global developmental dealy (HP:0001263); no gross motor delay (-HP:0002194); abnormal social behaviour (HP:0012433); autistic behaviour (HP:0000729)/ADHD; dysmorphic facial features (HP:0001999), hypertelorism, bilateral epicanthus, large mouth, thick lips, stellar iris; no congenital heart defect (-HP:0001627);" "" "" "" "" "" "" "" "Williams-Beuren syndrome" ## 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}}" "0000473209" "00471539" "1" "00006" "00006" "2025-12-27 15:29:46" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000473210" "00471540" "1" "00006" "00006" "2025-12-27 15:29:46" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000473211" "00471541" "1" "00006" "00006" "2025-12-27 15:29:46" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000473212" "00471542" "1" "00006" "00006" "2025-12-27 15:29:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473213" "00471543" "1" "00006" "00006" "2025-12-27 15:29:46" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000473214" "00471544" "1" "00006" "00006" "2025-12-27 15:29:46" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WES" "0000473215" "00471545" "1" "00006" "00006" "2025-12-27 15:29:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000473216" "00471546" "1" "00006" "00006" "2025-12-27 15:29:46" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" ## 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 = 11 "{{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}}" "0000851662" "0" "50" "7" "74146822" "74146822" "subst" "0" "01943" "GTF2I_000002" "g.74146822C>T" "" "" "" "GTF2I(NM_032999.3):c.1123C>T (p.Q375*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924752" "0" "50" "7" "74160241" "74160241" "subst" "0" "02325" "GTF2I_000003" "g.74160241T>G" "" "" "" "GTF2I(NM_032999.4):c.1954T>G (p.Y652D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977844" "0" "50" "7" "74152424" "74152424" "subst" "0.000493266" "01804" "GTF2I_000004" "g.74152424C>G" "" "" "" "GTF2I(NM_032999.4):c.1657C>G (p.(Gln553Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001062008" "0" "70" "7" "74113422" "74113422" "subst" "0" "00006" "GTF2I_000008" "g.74113422T>G" "" "{PMID:Jury 2025:40962490}" "" "" "ACMG PM2, PS2, PP2" "De novo" "" "" "0" "" "" "g.74699092T>G" "" "likely pathogenic (dominant)" "ACMG" "0001062009" "0" "90" "7" "74148324" "74148324" "subst" "0" "00006" "GTF2I_000009" "g.74148324G>A" "" "{PMID:Jury 2025:40962490}" "" "" "ACMG PM2, PS2, PVS1" "De novo" "" "" "0" "" "" "g.74733982G>A" "" "pathogenic (dominant)" "ACMG" "0001062010" "0" "70" "7" "74103562" "74103562" "subst" "0" "00006" "GTF2I_000006" "g.74103562G>T" "" "{PMID:Jury 2025:40962490}" "" "" "ACMG PM2, PS2, PM4" "De novo" "" "" "0" "" "" "g.74689228G>T" "" "likely pathogenic (dominant)" "ACMG" "0001062011" "0" "70" "7" "74157790" "74157792" "del" "0" "00006" "GTF2I_000010" "g.74157790_74157792del" "" "{PMID:Jury 2025:40962490}" "" "" "ACMG PM2, PS2" "De novo" "" "" "0" "" "" "g.74743451_74743453del" "" "likely pathogenic (dominant)" "ACMG" "0001062012" "0" "90" "7" "74146822" "74146822" "subst" "0" "00006" "GTF2I_000002" "g.74146822C>T" "" "{PMID:Jury 2025:40962490}" "" "" "ACMG PM2, PS2, PVS1" "De novo" "" "" "0" "" "" "g.74732481C>T" "" "pathogenic (dominant)" "ACMG" "0001062013" "0" "90" "7" "74104523" "74142468" "del" "0" "00006" "GTF2I_000007" "g.(?_74104523)_(74142468_?)del" "" "{PMID:Jury 2025:40962490}" "" "hg38 chr7:74690191-74728130x1" "ACMG PM2, PS2, PVS1" "De novo" "" "" "0" "" "" "g.(?_74690191)_(74728130_?)del" "" "pathogenic (dominant)" "ACMG" "0001062014" "0" "90" "7" "74167447" "74167447" "del" "0" "00006" "GTF2I_000011" "g.74167447del" "" "{PMID:Jury 2025:40962490}" "" "" "ACMG PM2, PS2, PVS1" "De novo" "" "" "0" "" "" "g.74753115del" "" "pathogenic (dominant)" "ACMG" "0001062015" "0" "70" "7" "0" "0" "" "" "00006" "EZH2_000001" "g.?" "" "{PMID:Jury 2025:40962490}" "" "" "significant GTF2I RNA down-expression" "Germline/De novo (untested)" "" "" "0" "" "" "g.?" "" "likely pathogenic (dominant)" "" ## 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 GTF2I ## Count = 11 "{{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}}" "0000851662" "00026045" "50" "1123" "0" "1123" "0" "c.1123C>T" "r.(?)" "p.(Gln375*)" "" "0000924752" "00026045" "50" "1954" "0" "1954" "0" "c.1954T>G" "r.(?)" "p.(Tyr652Asp)" "" "0000977844" "00026045" "50" "1657" "0" "1657" "0" "c.1657C>G" "r.(?)" "p.(Gln553Glu)" "" "0001062008" "00026045" "70" "370" "0" "370" "0" "c.370T>G" "r.370T>G" "p.Tyr124Asp" "" "0001062009" "00026045" "90" "1363" "1" "1363" "1" "c.1363+1G>A" "r.1305_1363del" "p.Lys435AsnfsTer11" "16i" "0001062010" "00026045" "70" "99" "1" "99" "1" "c.99+1G>T" "r.99_100ins[T;99+2_99+33]" "p.Met33_Cys34insLeuArgProSerValProSerPheHisSerTrp" "2i" "0001062011" "00026045" "70" "1681" "0" "1683" "0" "c.1681_1683del" "r.(?)" "p.(Lys561del)" "" "0001062012" "00026045" "90" "1123" "0" "1123" "0" "c.1123C>T" "r.0" "p.0" "" "0001062013" "00026045" "90" "100" "-782" "944" "-656" "c.(?_100-782)_(944-656_?)del" "r.?" "p.?" "" "0001062014" "00026045" "90" "2579" "0" "2579" "0" "c.2579del" "r.(?)" "p.(Ser860Ter)" "" "0001062015" "00026045" "70" "0" "0" "0" "0" "c.?" "r.=|red" "p.=|red" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000473209" "0001062008" "0000473210" "0001062009" "0000473211" "0001062010" "0000473212" "0001062011" "0000473213" "0001062012" "0000473214" "0001062013" "0000473215" "0001062014" "0000473216" "0001062015"