### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TCEAL1) # 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}}" "TCEAL1" "transcription elongation factor A (SII)-like 1" "X" "q22.1" "unknown" "NC_000023.10" "UD_136094563771" "" "https://www.LOVD.nl/TCEAL1" "" "1" "11616" "9338" "300237" "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/TCEAL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-11-27 10:31:55" "00000" "2024-04-19 20:27:30" ## 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}}" "00020874" "TCEAL1" "transcript variant 1" "002" "NM_004780.2" "" "NP_004771.2" "" "" "" "-174" "1037" "480" "102883892" "102885881" "" "0000-00-00 00:00:00" "" "" ## 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}}" "TCEAL1" "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}}" "00424054" "" "" "" "1" "" "00006" "{PMID:Hijazi 2022:36368327}" "" "M" "no" "United States" "" "0" "" "" "white" "Pat1" "00424055" "" "" "" "1" "" "00006" "{PMID:Hijazi 2022:36368327}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white;Europe" "Pat2" "00424056" "" "" "" "1" "" "00006" "{PMID:Hijazi 2022:36368327}" "" "M" "no" "France" "" "0" "" "" "white;Europe" "Pat3" "00424057" "" "" "" "1" "" "00006" "{PMID:Hijazi 2022:36368327}" "" "F" "" "Netherlands" "" "0" "" "" "white;Europe" "Pat4" "00424058" "" "" "" "1" "" "00006" "{PMID:Hijazi 2022:36368327}" "" "F" "no" "" "" "0" "" "" "white;China" "Pat5" "00424059" "" "" "" "1" "" "00006" "{PMID:Hijazi 2022:36368327}" "" "F" "no" "Algeria" "" "0" "" "" "" "Pat6" "00424060" "" "" "" "1" "" "00006" "{PMID:Hijazi 2022:36368327}" "" "M" "no" "" "" "0" "" "" "white;Europe" "Pat7" "00424061" "" "" "" "1" "" "00006" "{PMID:Hijazi 2022:36368327}" "" "M" "no" "" "" "0" "" "" "white;Europe" "Pat8" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00424054" "05611" "00424055" "05611" "00424056" "05611" "00424057" "05611" "00424058" "05611" "00424059" "05611" "00424060" "05611" "00424061" "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}}" "0000315262" "05611" "00424054" "00006" "Isolated (sporadic)" "5y" "maternal hemolysis, elevated liver enzymes, and low platelets; birth 37w, C-section; no postnatal complications; developmental delay (HP:0012758)/moderate intelletual disability (HP:0001249); no neurodevelopmental regression (-HP:0002376); no seizures (-HP:0001250); single words only, communication device and signs; hypotonia (HP:0001319); gait disturbance (HP:0001288); behavioral abnormalities (HP:0000708); autism/autistic-like behavior (HP:0000717); no abnormal myelination (-HP:0012447); possible mild foreshortening of corpus callosum; astigmatism (HP:0000483); nystagmus (HP:0000639); strabismus (HP:0000486); mild myopia (HP:0000545); no iris coloboma (-HP:0000612); broad forehead (HP:0000337), other dysmorphic features; abnormality of the immune system (HP:0002715), recurrent ear infections" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000315263" "05611" "00424055" "00006" "Isolated (sporadic)" "10y" "maternal pruritic urticarial papules and plaques of pregnancy; birth 41w, C-section; postnatal complications, hyperbilirubinemia; developmental delay (HP:0012758)/severe intelletual disability (HP:0001249); neurodevelopmental regression (HP:0002376) , lost single words; seizures (HP:0001250), (developed in early childhood); currently non-verbal; hypotonia (HP:0001319); gait disturbance (HP:0001288), non-ambulatory; behavioral abnormalities (HP:0000708); autism/autistic-like behavior (HP:0000717); no abnormal myelination (-HP:0012447); no structural brain anomalies; astigmatism (HP:0000483); no nystagmus (-HP:0000639); strabismus (HP:0000486), other dysmorphic features; hyperopia (HP:0000540); no iris coloboma (-HP:0000612); broad forehead (HP:0000337), other dysmorphic features; gastrointestinal abnormality (HP:0011024), GERD, constipation, G-tube; abnormality of the immune system (HP:0002715), recurrent chest infections (aspiration)" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000315264" "05611" "00424056" "00006" "Isolated (sporadic)" "17y" "no prenatal complications; birth at term; no postnatal complications; developmental delay (HP:0012758)/severe intelletual disability (HP:0001249); no neurodevelopmental regression (-HP:0002376); no seizures (-HP:0001250); non-verbal; hypotonia (HP:0001319); gait disturbance (HP:0001288), ataxic with support; behavioral abnormalities (HP:0000708); autism/autistic-like behavior (HP:0000717); astigmatism (HP:0000483), other dysmorphic features; no nystagmus (-HP:0000639); strabismus (HP:0000486); no myopia (-HP:0000545)/no hyperopia (-HP:0000540); no iris coloboma (-HP:0000612); broad forehead (HP:0000337), deep-set eyes, very bright blue eyes; gastrointestinal abnormality (HP:0011024), chewing difficulty, constipation; abnormality of the immune system (HP:0002715), recurrent ear infections; growth retardation (onset 5 y/o), no puberty onset, hyperlaxity" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000315265" "05611" "00424057" "00006" "Isolated (sporadic)" "7y" "no prenatal complications; birth 40w; difficulty feeding (short frenulum); developmental delay (HP:0012758)/moderate intelletual disability (HP:0001249); no neurodevelopmental regression (-HP:0002376); seizures (HP:0001250), (one absence with apnea); single words only, max 30 words; hypotonia (HP:0001319); gait disturbance (HP:0001288); behavioral abnormalities (HP:0000708); no autism/autistic-like behavior (-HP:0000717); abnormal myelination (HP:0012447); delayed myelinization of terminal zones of lateral ventricles, slight diminishing of white matter parietooccipital; no astigmatism (-HP:0000483); no nystagmus (-HP:0000639); no strabismus (-HP:0000486); no myopia (-HP:0000545)/no hyperopia (-HP:0000540); iris coloboma (HP:0000612); broad forehead (HP:0000337); gastrointestinal abnormality (HP:0011024), constipation; abnormality of the immune system (HP:0002715), recurrent respiratory and ear infections; not toilet trained at age 7, hypermobile fingers" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000315266" "05611" "00424058" "00006" "Isolated (sporadic)" "17y" "no prenatal complications; birth 37w; postnatal complications, hyperbilirubinemia; developmental delay (HP:0012758)/mild-moderate intelletual disability (HP:0001249); neurodevelopmental regression (HP:0002376); no seizures (-HP:0001250); single words, short sentences; gait disturbance (HP:0001288); behavioral abnormalities (HP:0000708); autism/autistic-like behavior (HP:0000717); abnormal myelination (HP:0012447); abnormal myelination for age (HP:0012447); astigmatism (HP:0000483); no nystagmus (-HP:0000639); no strabismus (-HP:0000486); no myopia (-HP:0000545)/no hyperopia (-HP:0000540); no iris coloboma (-HP:0000612); broad forehead (HP:0000337), other dysmorphic features; abnormality of the immune system (HP:0002715), oral allergy syndrome, recurrent infection; hypertriglyceridemia, microcytic anemia" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000315267" "05611" "00424059" "00006" "Isolated (sporadic)" "9y" "no prenatal complications; birth 40w; no postnatal complications; developmental delay (HP:0012758)/severe intelletual disability (HP:0001249); no neurodevelopmental regression (-HP:0002376); no seizures (-HP:0001250); single words only, ∼10 words; hypotonia (HP:0001319); no gait disturbance (-HP:0001288); behavioral abnormalities (HP:0000708); no autism/autistic-like behavior (-HP:0000717); no abnormal myelination (-HP:0012447); no structural brain anomalies; astigmatism (HP:0000483); no nystagmus (-HP:0000639); strabismus (HP:0000486); no myopia (-HP:0000545)/no hyperopia (-HP:0000540); no iris coloboma (-HP:0000612); broad forehead (HP:0000337), other dysmorphic features; gastrointestinal abnormality (HP:0011024), regurgitation; no abnormality of the immune system (HP:0002715)-" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000315268" "05611" "00424060" "00006" "Isolated (sporadic)" "6y" "no prenatal complications; birth 38w, C-section; no postnatal complications; developmental delay (HP:0012758)/mild intelletual disability (HP:0001249); no neurodevelopmental regression (-HP:0002376); seizures (HP:0001250); single words, short sentences; hypotonia (HP:0001319), lower leg spasticity; gait disturbance (HP:0001288); behavioral abnormalities (HP:0000708); no autism/autistic-like behavior (-HP:0000717); abnormal myelination (HP:0012447); no structural brain anomalies; astigmatism (HP:0000483); no nystagmus (-HP:0000639); no strabismus (-HP:0000486); no myopia (-HP:0000545)/no hyperopia (-HP:0000540); no iris coloboma (-HP:0000612); broad forehead (HP:0000337), other dysmorphic features; no gastrointestinal abnormality (HP:0011024)-; no abnormality of the immune system (HP:0002715)-; premature puberty" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000315269" "05611" "00424061" "00006" "Familial, X-linked" "12y" "no prenatal complications; birth at term; no postnatal complications; no developmental delay (-HP:0012758)/no intelletual disability (-HP:0001249); no neurodevelopmental regression (-HP:0002376); no seizures (-HP:0001250); full sentences and normal vocabulary for age; hypertonia (HP:0001276), spasticity (HP:0001257), ankle clonus; gait disturbance (HP:0001288), toe walking; no behavioral abnormalities (-HP:0000708); no autism/autistic-like behavior (-HP:0000717); no abnormal myelination (-HP:0012447); no structural brain anomalies; no astigmatism (-HP:0000483); no nystagmus (-HP:0000639); no strabismus (-HP:0000486); no myopia (-HP:0000545)/no hyperopia (-HP:0000540); no iris coloboma (-HP:0000612); no broad forehead (-HP:0000337); no gastrointestinal abnormality (HP:0011024)-; no abnormality of the immune system (HP:0002715)-; urinary incontinence" "" "" "" "" "" "" "" "neurodevelopmental delay" ## 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}}" "0000425365" "00424054" "1" "00006" "00006" "2022-11-16 15:06:22" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000425366" "00424055" "1" "00006" "00006" "2022-11-16 15:06:22" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000425367" "00424056" "1" "00006" "00006" "2022-11-16 15:06:22" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000425368" "00424057" "1" "00006" "00006" "2022-11-16 15:06:22" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000425369" "00424058" "1" "00006" "00006" "2022-11-16 15:06:22" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000425370" "00424059" "1" "00006" "00006" "2022-11-16 15:06:22" "" "" "arraySNP;SEQ" "DNA" "" "" "0000425371" "00424060" "1" "00006" "00006" "2022-11-16 15:06:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000425372" "00424061" "1" "00006" "00006" "2022-11-16 15:06:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## 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 = 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}}" "0000572741" "0" "30" "X" "102884878" "102884878" "subst" "0.00011042" "01943" "TCEAL1_000001" "g.102884878C>T" "" "" "" "TCEAL1(NM_001006640.1):c.34C>T (p.P12S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103629950C>T" "" "likely benign" "" "0000572742" "0" "50" "X" "102885112" "102885112" "subst" "0" "01804" "TCEAL1_000002" "g.102885112T>G" "" "" "" "TCEAL1(NM_001006639.1):c.268T>G (p.(Cys90Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103630184T>G" "" "VUS" "" "0000572743" "0" "50" "X" "102885190" "102885190" "subst" "5.595E-6" "01943" "TCEAL1_000003" "g.102885190G>A" "" "" "" "TCEAL1(NM_001006640.1):c.346G>A (p.D116N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103630262G>A" "" "VUS" "" "0000618725" "0" "50" "X" "102884905" "102884905" "subst" "0" "01943" "TCEAL1_000004" "g.102884905G>T" "" "" "" "TCEAL1(NM_001006640.1):c.61G>T (p.E21*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103629977G>T" "" "VUS" "" "0000902090" "0" "90" "X" "102885291" "102885291" "subst" "0" "00006" "TCEAL1_000010" "g.102885291G>A" "" "{PMID:Hijazi 2022:36368327}" "" "" "" "De novo" "" "" "0" "" "" "g.103630363G>A" "" "pathogenic (dominant)" "" "0000902091" "0" "90" "X" "102885143" "102885146" "del" "0" "00006" "TCEAL1_000009" "g.102885143_102885146del" "" "{PMID:Hijazi 2022:36368327}" "" "" "" "De novo" "" "" "0" "" "" "g.103630215_103630218del" "" "pathogenic (dominant)" "" "0000902092" "0" "90" "X" "102885103" "102885103" "subst" "0" "00006" "TCEAL1_000007" "g.102885103C>T" "" "{PMID:Hijazi 2022:36368327}" "" "" "" "De novo" "" "" "0" "" "" "g.103630175C>T" "" "pathogenic (dominant)" "" "0000902093" "0" "90" "X" "102885113" "102885113" "subst" "0" "00006" "TCEAL1_000008" "g.102885113G>A" "" "{PMID:Hijazi 2022:36368327}" "" "" "" "De novo" "" "" "0" "" "" "g.103630185G>A" "" "pathogenic (dominant)" "" "0000902094" "0" "90" "X" "102879326" "102893312" "del" "0" "00006" "TCEAL1_000005" "g.(?_102879326)_(102893312_?)del" "" "{PMID:Hijazi 2022:36368327}" "" "hg19 102879326-102893312 del" "14 kb deletion TCEAL1" "De novo" "" "" "0" "" "" "g.(?_103624398)_(103638384_?)del" "" "pathogenic (dominant)" "" "0000902095" "0" "90" "X" "102774750" "102929222" "del" "0" "00006" "TCEAL1_000005" "g.(?_102774750)_(102929222_?)del" "" "{PMID:Hijazi 2022:36368327}" "" "hg19 102774750-102929222 del" "154 kb deletion TCEAL1, TCEAL3, TCEAL4" "De novo" "" "" "0" "" "" "g.(?_103519822)_(103674294_?)del" "" "pathogenic (dominant)" "" "0000902096" "0" "90" "X" "102885013" "102885013" "del" "0" "00006" "TCEAL1_000006" "g.102885013del" "" "{PMID:Hijazi 2022:36368327}" "" "169delC" "" "De novo" "" "" "0" "" "" "g.103630085del" "" "pathogenic (dominant)" "" "0000902097" "21" "90" "X" "102885190" "102885190" "subst" "5.595E-6" "00006" "TCEAL1_000003" "g.102885190G>A" "" "{PMID:Hijazi 2022:36368327}" "" "" "" "Germline" "" "" "0" "" "" "g.103630262G>A" "" "pathogenic (dominant)" "" "0000984358" "0" "30" "X" "102883960" "102883961" "ins" "0" "01804" "TCEAL1_000011" "g.102883960_102883961insA" "" "" "" "TCEAL1(NM_004780.3):c.-113+7_-113+8insA" "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 TCEAL1 ## 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}}" "0000572741" "00020874" "30" "34" "0" "34" "0" "c.34C>T" "r.(?)" "p.(Pro12Ser)" "" "0000572742" "00020874" "50" "268" "0" "268" "0" "c.268T>G" "r.(?)" "p.(Cys90Gly)" "" "0000572743" "00020874" "50" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Asp116Asn)" "" "0000618725" "00020874" "50" "61" "0" "61" "0" "c.61G>T" "r.(?)" "p.(Glu21Ter)" "" "0000902090" "00020874" "90" "447" "0" "447" "0" "c.447G>A" "r.(?)" "p.(Trp149Ter)" "3" "0000902091" "00020874" "90" "299" "0" "302" "0" "c.299_302del" "r.(?)" "p.(Gly100AlafsTer22)" "3" "0000902092" "00020874" "90" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Gln87Ter)" "3" "0000902093" "00020874" "90" "269" "0" "269" "0" "c.269G>A" "r.(?)" "p.(Cys90Tyr)" "3" "0000902094" "00020874" "90" "" "0" "" "0" "c.-174_*557{0}" "r.0" "p.0" "_1_3_" "0000902095" "00020874" "90" "" "0" "" "0" "c.-174_*557{0}" "r.0" "p.0" "_1_3_" "0000902096" "00020874" "90" "169" "0" "169" "0" "c.169del" "r.(?)" "p.(Leu57SerfsTer36)" "3" "0000902097" "00020874" "90" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Asp116Asn)" "3" "0000984358" "00020874" "30" "-113" "7" "-113" "8" "c.-113+7_-113+8insA" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000425365" "0000902090" "0000425366" "0000902091" "0000425367" "0000902092" "0000425368" "0000902093" "0000425369" "0000902094" "0000425370" "0000902095" "0000425371" "0000902096" "0000425372" "0000902097"