### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TFE3) # 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}}" "TFE3" "transcription factor binding to IGHM enhancer 3" "X" "p11.22" "unknown" "NG_016297.2" "UD_132118316150" "" "https://www.LOVD.nl/TFE3" "" "1" "11752" "7030" "314310" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/TFE3_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2020-11-27 13:30:07" "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}}" "00000548" "TFE3" "transcription factor binding to IGHM enhancer 3" "001" "NM_006521.4" "" "NP_006512.2" "" "" "" "-238" "3155" "1728" "48886242" "48900990" "00000" "2012-09-13 12:31:25" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02192" "RCCX1" "carcinoma, renal cell, Xp11-associated (RCCX1)" "" "300854" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-27 09:08:23" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06976" "MRXSPF" "intellectual developmental disorder, X-linked syndromic, with pigmentary mosaicism and coarse facies" "XL" "301066" "" "" "" "00006" "2022-11-25 16:07:15" "" "" "06977" "MRX" "mental retardation, X-linked" "" "" "" "" "" "00006" "2022-11-25 16:09:05" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "TFE3" "00139" "TFE3" "02192" "TFE3" "06976" ## Individuals ## Do not remove or alter this header ## ## Count = 25 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00172659" "" "" "" "64" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172660" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00320332" "" "" "" "1" "" "00006" "{PMID:Villegas 2019:30595499}, {PMID:Lehalle 2020:32409512}" "" "F" "" "France" "" "0" "" "" "" "Pat1/Pat1" "00320333" "" "" "" "1" "" "00006" "{PMID:Villegas 2019:30595499}, {PMID:Lehalle 2020:32409512}" "" "F" "" "France" "" "0" "" "" "" "Pat5/Pat2" "00320334" "" "" "" "1" "" "00006" "{PMID:Villegas 2019:30595499}, {PMID:Lehalle 2020:32409512}" "" "F" "" "France" "" "0" "" "" "" "Pat3/Pat3" "00320335" "" "" "" "1" "" "00006" "{PMID:Lehalle 2020:32409512}" "" "F" "" "" "" "0" "" "" "Europe" "Pat4" "00320336" "" "" "" "1" "" "00006" "{PMID:Lehalle 2020:32409512}" "" "F" "" "" "" "0" "" "" "" "Pat5" "00320337" "" "" "" "1" "" "00006" "{PMID:Lehalle 2020:32409512}" "" "F" "" "Portugal" "" "0" "" "" "" "Pat6" "00320338" "" "" "" "1" "" "00006" "{PMID:Villegas 2019:30595499}, {PMID:Lehalle 2020:32409512}" "" "F" "" "France" "" "0" "" "" "" "Pat2/Pat7" "00320339" "" "" "" "1" "" "00006" "{PMID:Lehalle 2020:32409512}" "" "F" "" "" "" "0" "" "" "" "Pat8" "00320340" "" "" "" "1" "" "00006" "{PMID:Lehalle 2020:32409512}" "" "F" "" "" "" "0" "" "" "" "Pat9" "00320341" "" "" "" "1" "" "00006" "{PMID:Lehalle 2020:32409512}" "" "F" "" "" "" "0" "" "" "" "Pat10" "00320342" "" "" "" "1" "" "00006" "{PMID:Lehalle 2020:32409512}" "" "F" "" "" "" "0" "" "" "" "Pat11" "00320343" "" "" "" "1" "" "00006" "{PMID:Lehalle 2020:32409512}" "" "F" "" "" "" "0" "" "" "" "Pat12" "00320344" "" "" "" "1" "" "00006" "{PMID:Lehalle 2020:32409512}" "" "M" "" "" "" "0" "" "" "Europe" "Pat13" "00320345" "" "" "" "1" "" "00006" "{PMID:Lehalle 2020:32409512}" "" "M" "" "" "" "0" "" "" "Ashkenazi-Jewish" "Pat14" "00320346" "" "" "" "1" "" "00006" "{PMID:Lehalle 2020:32409512}" "" "M" "" "" "" "0" "" "" "Europe" "Pat15" "00320347" "" "" "" "1" "" "00006" "{PMID:Lehalle 2020:32409512}" "" "M" "" "" "" "0" "" "" "" "Pat16" "00320348" "" "" "" "1" "" "00006" "{PMID:Villegas 2019:30595499}, {PMID:Lehalle 2020:32409512}" "" "M" "" "France" "" "0" "" "" "" "{at4/Pat17" "00320349" "" "" "" "1" "" "00006" "{PMID:Diaz 2020:32409512}" "" "F" "" "United States" "" "0" "" "" "" "Pat1" "00320350" "" "" "" "1" "" "00006" "{PMID:Diaz 2020:32409512}" "" "F" "" "United States" "" "0" "" "" "" "Pat2" "00425650" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "195453" "00444505" "" "" "" "1" "" "00006" "{PMID:Riquin 2023:37495270}" "patient" "F" "" "France" "" "0" "" "" "" "Pat7" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00172659" "00187" "00172660" "00187" "00320332" "00139" "00320333" "00139" "00320334" "00139" "00320335" "00139" "00320336" "00139" "00320337" "00139" "00320338" "00139" "00320339" "00139" "00320340" "00139" "00320341" "00139" "00320342" "00139" "00320343" "00139" "00320344" "00139" "00320345" "00139" "00320346" "00139" "00320347" "00139" "00320348" "00139" "00320349" "00139" "00320350" "00139" "00425650" "06977" "00444505" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 01157, 02192, 05611, 06976, 06977 ## Count = 25 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "0000137523" "00187" "00172659" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137524" "00187" "00172660" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000242345" "00139" "00320332" "00006" "Isolated (sporadic)" "20y" "pregnancy high serum markers, normal foetal karyotype; no neonatal features; birth 36w, weight –1SD, length +0.5SD; length -4.5SD, BMI 25 (80th); severe developmental delay/intellectual disability; not walking; no speech; 7m-epilepsy; 7m-psychomotor regression; hypotonia; no behavioural issues; MRI brain normal; widely spaced eyes; bifid nose; flat nasal bridge; coarseness; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; hyperlordosis; hip dislocation; no genu valgum; no club feet; skin Blaschko’s lines; no umbilical hernia; normal eyes; no hearing loss; aortic insufficiency, body asymmetry; no recurrent infections" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000242346" "00139" "00320333" "00006" "Isolated (sporadic)" "20y" "pregnancy uncomplicated; no neonatal features; length -4SD, OFC 0SD, BMI 30 (92th); severe developmental delay/intellectual disability; 40m-walk; few words; 10y-epilepsy; 9m-psychomotor regression; hypotonia; no behavioural issues; MRI brain normal; widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness, protruding tongue; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; hyperlordosis; no hip dislocation; genu valgum; club feet; normal skeletal X-rays; normal skin pigmentation; no umbilical hernia; strabismus; no hearing loss; no recurrent infections" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000242347" "00139" "00320334" "00006" "Isolated (sporadic)" "3y2m" "pregnancy oligohydramnios, third trimester intrauterine growth retardation; neonatal hypoglycaemia; birth 41w, weight –2SD; length -1.4SD, OFC -1SD, BMI 17.5 (90th); severe developmental delay/intellectual disability; not walking; no speech; 17m-epilepsy; infancy regression; no neurological phenotype; no behavioural issues; MRI brain normal; widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; unilateral dysplasia; no genu valgum; no club feet; skin Blaschko’s lines; umbilical hernia; strabismus, impaired vision; no hearing loss; chronic upper airways infections" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000242348" "00139" "00320335" "00006" "Isolated (sporadic)" "18m" "pregnancy uncomplicated; neonatal plagiocephaly; birth 41w, weight +2SD, length >+3SD, OFC +2SD; length +1.4SD, OFC +0.7SD, BMI 19.9 (95th); severe developmental delay/intellectual disability, no interaction, low head control; not walking; no speech; no epilepsy; no developmental regression; severe truncal muscular hypotonia, distal hypertonia; autistic behaviour (stereotypic movements); MRI brain normal; high forehead; widely spaced eyes; anteverted nares; flat nasal bridge; coarseness; no hypertrichosis; no thick lips; pink and full cheeks; almond-shaped eyes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; normal skin pigmentation; no umbilical hernia; hyperopia; unconclusive hearing test; no recurrent infections" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000242349" "00139" "00320336" "00006" "Isolated (sporadic)" "10y" "pregnancy uncomplicated; neonatal jaundice, transient neonatal hepatomegaly; birth 38w, weight +1SD, length –1SD, OFC -1SD; length -4SD, OFC 0SD, BMI 19; severe developmental delay/intellectual disability; not walking; no speech; 6y-epilepsy; no developmental regression; hypotonia, lower limb spasticity; MRI brain short corpus callosum; widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; skeletal X-rays metaphyseal enlargement; skin Blaschko’s lines; no umbilical hernia; abnomality of the vep; hearing loss; clubbing of fingers" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000242350" "00139" "00320337" "00006" "Isolated (sporadic)" "29m" "pregnancy uncomplicated; neonatal feeding difficulties; birth term, weight 0SD, length +0.5SD, OFC +0.5SD; length -1SD, OFC 0SD, BMI 18 (90th); severe developmental delay/intellectual disability, head control; not walking; no speech; no epilepsy; no developmental regression; no neurological phenotype; sleep disturbance; MRI brain hydrocephaly (acqueducal stenosis); no widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness; hypertrichosis; no thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; skeletal X-rays short metacarpals and long bones; skin Blaschko’s lines; no umbilical hernia; strabismus, depigmented iridian macule; hearing loss; lateral semicircular canal dysplasia, laryngomalacia; recurrent infections" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000242351" "00139" "00320338" "00006" "Isolated (sporadic)" "4y3m" "pregnancy ureteral dilatation, gestational diabetes; neonatal hypotonia, feeding difficulties; birth 38w, weight +2SD, length 0SD, OFC 0SD; length +2.5SD, OFC 1SD, BMI 15.4 (50th); severe developmental delay/intellectual disability, 12m-sit; not walking; no speech; no epilepsy; no developmental regression; no neurological phenotype; hand stereotypies, sleep disturbance, autism; MRI brain normal; no widely spaced eyes; flat nasal bridge; anteverted nares, short nose; no coarseness; no hypertrichosis; no thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; normal skeletal X-rays; skin Blaschko’s lines; no umbilical hernia; normal eyes; no hearing loss; histiocytofibroma (4y); no recurrent infections" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000242352" "00139" "00320339" "00006" "Isolated (sporadic)" "14y" "pregnancy uncomplicated; no neonatal features; birth 39w, weight 0SD, lenght 0SD; length -3SD, OFC -0.5SD, BMI 22.4 (85th); severe developmental delay/intellectual disability; 6y-walk; no speech; 4y-epilepsy; infancy loss of words; hypotonia; happy behaviour, sleep disturbance; MRI brain normal; widely spaced eyes; flat nasal bridge; anteverted nares, short nose; coarseness; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; hyperlordosis; no hip dislocation; no genu valgum; no club feet; normal skeletal X-rays; skin Blaschko’s lines; no umbilical hernia; hyperopia; no hearing loss; patent ductus arteriosus, gastro-oesophageal reflux; no recurrent infections" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000242353" "00139" "00320340" "00006" "Isolated (sporadic)" "10y" "pregnancy uncomplicated; neonatal jaundice; birth 39w, weight +1SD; length -2.8SD, OFC +0.5SD, BMI 25 (90th); severe developmental delay/intellectual disability; 30m-walk; 3y-single words; 10y-epilepsy; no developmental regression; no neurological phenotype; autistic behaviour (stereotypies); MRI brain normal; widely spaced eyes; flat nasal bridge; anteverted nares; coarseness; no hypertrichosis; thick lips; pink and full cheeks; no almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; skin Blaschko’s lines; no umbilical hernia; normal eyes; no hearing loss; no recurrent infections" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000242354" "00139" "00320341" "00006" "Isolated (sporadic)" "22y" "pregnancy Tegretol; neonatal geeding difficulties; birth birth 36+6w, weight 0SD; length -3.5SD, BMI 21; severe developmental delay/intellectual disability; 7y-walk with assistance; no speech; 10y-epilepsy; 9m-loss of babbling; increased reflexes, tremor of the upper extremities, wide-based gait; autistic behaviour (stereotypies); MRI brain abnormal myelination; broad forehead; no widely spaced eyes; flat nasal bridge; anteverted nares, short nose; coarseness, protruding tongue; no hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; hyperlordosis; no hip dislocation; genu valgum; club feet; skin large hyperpigmented region on the abdomen; no umbilical hernia; normal eyes; no hearing loss; chronic constipation; no recurrent infections" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000242355" "00139" "00320342" "00006" "Isolated (sporadic)" "9y" "pregnancy uncomplicated; no neonatal features; birth 36+6w, weight –0.5SD, length -1SD, OFC –1.8SD; length -2.5SD, BMI 17.5; severe developmental delay/intellectual disability; not walking; no speech; 5y-seizure; no developmental regression; hypotonia, mild spasticity (left side); no behavioural issues; MRI brain normal; no widely spaced eyes; flat nasal bridge; anteverted nares, short nose; coarseness; hypertrichosis; thick lips; no pink and full cheeks; no almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; club feet left; skin Blaschko’s lines; no umbilical hernia; normal eyes; no hearing loss; body asymmetry; no recurrent infections" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000242356" "00139" "00320343" "00006" "Isolated (sporadic)" "12m" "no neonatal features; birth 39w, weight –1SD, length -1SD, OFC –1SD; length 1SD, OFC +0.5SD, BMI 95th; significant developmental delay; not walking; no speech; no epilepsy; no developmental regression; hypotonia; no behavioural issues; widely spaced eyes; flat nasal bridge; no coarseness; no hypertrichosis; thick lips; no pink and full cheeks; almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; abnormal skin pigmentation; no umbilical hernia; normal eyes; conductive hearing loss; –; no recurrent infections" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000242357" "00139" "00320344" "00006" "Isolated (sporadic)" "22y" "pregnancy gestational diabetes; 4m-hepatomegaly; birth 41w, weight –0.5SD, length -1SD, OFC –1SD; length -4SD, OFC -1SD, BMI 23; severe developmental delay/intellectual disability; not walking; no speech; <1y-epilepsy; no developmental regression; spastic tetraplegia, ataxic gait; autistic behaviour (stereotypies, self-injuries) sleep disturbance; MRI brain unspecific changes in paraventricular myelination, generalised cerebral atrophy, retrocerebellar arachnoid cyst; flat face; widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness; hypertrichosis; thick lips; full cheeks; almond-shaped eyes; thick earlobes; flat feet; hyperlordosis; hip dysplasia; genu valgum; no club feet; skeletal X-rays advanced bone age; normal skin pigmentation; umbilical hernia; strabismus, severe myopia, retinal degeneration; no hearing loss; clubbing of fingers, splenomegaly, anteriorly displaced anus, kidney asymmetry; recurrent lung infections" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000242358" "00139" "00320345" "00006" "Isolated (sporadic)" "4y5m" "pregnancy uncomplicated; no neonatal features; birth weight -1SD; length 2SD, OFC 0SD, BMI 16; severe developmental delay/intellectual disability; 30m-walk; no speech; no epilepsy; no developmental regression; hypotonia; autistic behaviour; MRI brain normal; widely spaced eyes; anteverted nares; flat nasal bridge; coarseness; hypertrichosis; no thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; no flat feet; hyperlordosis; no hip dislocation; no genu valgum; no club feet; normal skin pigmentation; no umbilical hernia; oculomotor apraxia; no hearing loss; interstitial lung disease, chronic diarrhoea; no recurrent infections" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000242359" "00139" "00320346" "00006" "Isolated (sporadic)" "6y6m" "no neonatal features; length -1SD, OFC 1SD, BMI 21.3 (>95th); severe developmental delay/intellectual disability; 3y-walk; na; no epilepsy; no developmental regression; no neurological phenotype; autism; MRI brain normal; no widely spaced eyes; no anteverted nares; flat nasal bridge; coarseness; no hypertrichosis; thick lips; pink and full cheeks; no almond-shaped eyes; no thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; normal skin pigmentation; no umbilical hernia; strabismus; no hearing loss; posterior plagiocephaly; no recurrent infections" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000242360" "00139" "00320347" "00006" "Isolated (sporadic)" "7y" "neonatal jaundice; birth 33w; length -2.63SD, OFC +1.9SD, BMI 20 (>95th); severe developmental delay/intellectual disability, 4y-sit; not walking; no speech; epilepsy; no developmental regression; hypotonia, spasticity; autistic behaviour, sleep disturbance; MRI brain arachnoid cyst, Dandy-Walker malformation; widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; club feet; skin Blaschko’s lines; cortical visual impairment, strabismus, amblyopia; hearing loss; chronic lung disease (4 m.), sleep apnoea syndrome; recurrent infections, neutropenia" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000242361" "00139" "00320348" "00006" "Isolated (sporadic)" "5y" "pregnancy uncomplicated; neonatal cholestasis, hepatomegaly, hypoglycaemia; birth at term, weight -1SD, OFC +1SD; length -4.5, OFC -0.4, BMI 16.6 (80th) ; severe developmental delay/intellectual disability; not walking; no speech; 1d-epilepsy; no developmental regression; hypotonia; sleep disturbance; MRI brain hydrocephaly, periventricular white matter lesions; prominent forehead; widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness; no hypertrichosis; no thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; hip dislocation; no club feet; normal skeletal X-rays (thorax); skin Blaschko’s lines; umbilical hernia; normal eyes; hearing loss; bronchomalacia, cardiac left ventricle dilatation, hypospadias, clubbing of fingers; recurrent infections" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000242362" "00139" "00320349" "00006" "Isolated (sporadic)" "11y5m" "no neonatal course; severe developmental delay/intellectual disability; autism spectrum disorder; 3.5y-walk; speech few words; developmental regression; hand stereotypies; no epilepsy; hypotonia; MRI brain normal; coarse facies; height -0.4SD, BMI 38.1 (obese), OFC +2.7SD; skin Blaschkoid pigmentary mosaicism; no umbilical hernia; no orthopedic anomalies; no strabismus; hepatomegaly; recurrent otitis media; clinical suspicion for lysosomal storage disorder" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000242363" "00139" "00320350" "00006" "Isolated (sporadic)" "5y6m" "no neonatal course; severe developmental delay/intellectual disability; autism spectrum disorder; 3y-walk; speech few words; developmental regression; hand stereotypies; 32m-epilepsy; hypotonia; MRI brain normal; coarse facies; height +0.16SD, BMI 18.5 (overweight), OFC +1.39SD; skin Blaschkoid pigmentary mosaicism; umbilical hernia; orthopedic anomalies; strabismus; hepatomegaly; recurrent otitis media; clinical suspicion for lysosomal storage disorder" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000316966" "06977" "00425650" "01164" "Unknown" "02y" "Delayed speech and language development, Global developmental delay, Absent speech, Broad-based gait" "" "" "" "" "" "" "" "" "MRXSPF" "mental retardation, X-linked" "0000333758" "05611" "00444505" "00006" "Isolated (sporadic)" "10y-20y" "Hypotonia, severe global developmental delay, behavior troubles, trunk hyperpigmentation, short stature -3 SD, bilateral hearing impairement, short corpus callosum" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000173542" "00172659" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000173543" "00172660" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000321518" "00320332" "1" "00006" "00006" "2020-11-27 13:30:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321519" "00320333" "1" "00006" "00006" "2020-11-27 13:30:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321520" "00320334" "1" "00006" "00006" "2020-11-27 13:30:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321521" "00320335" "1" "00006" "00006" "2020-11-27 13:30:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321522" "00320336" "1" "00006" "00006" "2020-11-27 13:30:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321523" "00320337" "1" "00006" "00006" "2020-11-27 13:30:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321524" "00320338" "1" "00006" "00006" "2020-11-27 13:30:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321525" "00320339" "1" "00006" "00006" "2020-11-27 13:30:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321526" "00320340" "1" "00006" "00006" "2020-11-27 13:30:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000321527" "00320341" "1" "00006" "00006" "2020-11-27 13:30:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321528" "00320342" "1" "00006" "00006" "2020-11-27 13:30:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321529" "00320343" "1" "00006" "00006" "2020-11-27 13:30:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321530" "00320344" "1" "00006" "00006" "2020-11-27 13:30:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321531" "00320345" "1" "00006" "00006" "2020-11-27 13:30:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321532" "00320346" "1" "00006" "00006" "2020-11-27 13:30:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321533" "00320347" "1" "00006" "00006" "2020-11-27 13:30:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321534" "00320348" "1" "00006" "00006" "2020-11-27 13:30:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321535" "00320349" "1" "00006" "00006" "2020-11-27 13:30:34" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000321536" "00320350" "1" "00006" "00006" "2020-11-27 13:30:34" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000426970" "00425650" "1" "01164" "01164" "2022-11-25 12:08:29" "" "" "SEQ-NG-I" "DNA" "" "" "0000446073" "00444505" "1" "00006" "00006" "2023-12-24 18:16:19" "" "" "SEQ-NG" "DNA" "" "WES, WGS trio" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{geneid}}" "0000173542" "CENPI" "0000173543" "CENPI" "0000321518" "TFE3" "0000321519" "TFE3" "0000321520" "TFE3" "0000321521" "TFE3" "0000321522" "TFE3" "0000321523" "TFE3" "0000321524" "TFE3" "0000321525" "TFE3" "0000321526" "TFE3" "0000321527" "TFE3" "0000321528" "TFE3" "0000321529" "TFE3" "0000321530" "TFE3" "0000321531" "TFE3" "0000321532" "TFE3" "0000321533" "TFE3" "0000321534" "TFE3" "0000321535" "TFE3" "0000321536" "TFE3" "0000426970" "TFE3" ## 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 = 56 "{{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}}" "0000006841" "20" "50" "X" "48898183" "48898183" "subst" "0" "00037" "TFE3_000002" "g.48898183C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49040656=" "" "VUS" "" "0000006842" "20" "50" "X" "48900900" "48900900" "subst" "0" "00037" "TFE3_000001" "g.48900900T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49043374=" "" "VUS" "" "0000008914" "20" "50" "X" "48898183" "48898183" "subst" "0" "00037" "TFE3_000002" "g.48898183C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49040656=" "" "VUS" "" "0000311794" "0" "10" "X" "48888074" "48888074" "subst" "0.390179" "02325" "TFE3_000008" "g.48888074T>C" "" "" "" "TFE3(NM_006521.6):c.1323A>G (p.V441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49030563T>C" "" "benign" "" "0000316481" "0" "30" "X" "48887989" "48887989" "subst" "9.0421E-5" "01943" "TFE3_000007" "g.48887989C>T" "" "" "" "TFE3(NM_006521.5):c.1408G>A (p.G470S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49030478C>T" "" "likely benign" "" "0000316482" "0" "10" "X" "48887958" "48887958" "subst" "0.00082311" "01943" "TFE3_000006" "g.48887958C>G" "" "" "" "TFE3(NM_006521.5):c.1439G>C (p.G480A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49030447C>G" "" "benign" "" "0000316483" "0" "30" "X" "48887768" "48887768" "subst" "0.000149805" "01943" "TFE3_000003" "g.48887768T>C" "" "" "" "TFE3(NM_006521.5):c.1629A>G (p.P543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49030257T>C" "" "likely benign" "" "0000316484" "0" "30" "X" "48896791" "48896791" "subst" "0" "01943" "TFE3_000011" "g.48896791C>G" "" "" "" "TFE3(NM_006521.5):c.375G>C (p.A125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49039266C>G" "" "likely benign" "" "0000316485" "0" "30" "X" "48895835" "48895835" "subst" "0.000237286" "01943" "TFE3_000009" "g.48895835C>T" "" "" "" "TFE3(NM_006521.5):c.667G>A (p.A223T), TFE3(NM_006521.6):c.667G>A (p.(Ala223Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49038310C>T" "" "likely benign" "" "0000334036" "0" "30" "X" "48887787" "48887787" "subst" "1.81082E-5" "01804" "TFE3_000004" "g.48887787G>A" "" "" "" "TFE3(NM_006521.5):c.1610C>T (p.(Ser537Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49030276G>A" "" "likely benign" "" "0000334037" "0" "50" "X" "48887947" "48887947" "subst" "0.00228838" "01804" "TFE3_000005" "g.48887947C>T" "" "" "" "TFE3(NM_006521.5):c.1450G>A (p.(Ala484Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49030436C>T" "" "VUS" "" "0000334040" "0" "30" "X" "48900727" "48900727" "subst" "0.00147043" "01804" "TFE3_000014" "g.48900727C>G" "" "" "" "TFE3(NM_006521.5):c.26G>C (p.R9P, p.(Arg9Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49043201C>G" "" "likely benign" "" "0000393401" "1" "50" "X" "48888074" "48888074" "subst" "0.390179" "00124" "TFE3_000008" "g.48888074T>C" "64/208 cases" "{PMID:Tarpey 2009:19377476}" "" "V441V" "recurrent, found 64 times; variant and/or predicted effect could not be not confirmed by curators" "Germline" "" "" "0" "" "" "g.49030563T>C" "" "VUS" "" "0000393402" "1" "50" "X" "48896750" "48896750" "subst" "6.78125E-5" "00124" "TFE3_000015" "g.48896750G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "A139V" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.49039225G>A" "" "VUS" "" "0000576297" "0" "30" "X" "48887805" "48887805" "subst" "6.30376E-5" "01943" "TFE3_000016" "g.48887805C>T" "" "" "" "TFE3(NM_006521.5):c.1592G>A (p.G531E), TFE3(NM_006521.6):c.1592G>A (p.G531E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49030294C>T" "" "likely benign" "" "0000576298" "0" "30" "X" "48887913" "48887913" "subst" "1.68867E-5" "01943" "TFE3_000017" "g.48887913G>A" "" "" "" "TFE3(NM_006521.5):c.1484C>T (p.P495L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49030402G>A" "" "likely benign" "" "0000576299" "0" "30" "X" "48887946" "48887946" "subst" "0.000264841" "01943" "TFE3_000018" "g.48887946G>A" "" "" "" "TFE3(NM_006521.5):c.1451C>T (p.A484V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49030435G>A" "" "likely benign" "" "0000576300" "0" "30" "X" "48887958" "48887958" "subst" "5.63774E-5" "01943" "TFE3_000019" "g.48887958C>T" "" "" "" "TFE3(NM_006521.5):c.1439G>A (p.G480E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49030447C>T" "" "likely benign" "" "0000576301" "0" "30" "X" "48896751" "48896751" "subst" "6.76715E-5" "01943" "TFE3_000020" "g.48896751C>T" "" "" "" "TFE3(NM_006521.5):c.415G>A (p.A139T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49039226C>T" "" "likely benign" "" "0000576302" "0" "10" "X" "48900727" "48900727" "subst" "0.00147043" "01943" "TFE3_000014" "g.48900727C>G" "" "" "" "TFE3(NM_006521.5):c.26G>C (p.R9P, p.(Arg9Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49043201C>G" "" "benign" "" "0000624640" "0" "30" "X" "48891027" "48891027" "subst" "5.60507E-5" "01943" "TFE3_000021" "g.48891027G>A" "" "" "" "TFE3(NM_006521.5):c.1089C>T (p.N363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49033512G>A" "" "likely benign" "" "0000704405" "0" "90" "X" "48896810" "48896810" "subst" "0" "00006" "TFE3_000032" "g.48896810T>G" "" "{PMID:Villegas 2019:30595499}, {PMID:Lehalle 2020:32409512}" "" "" "" "De novo" "" "" "0" "" "" "g.49039285T>G" "" "pathogenic (dominant)" "" "0000704406" "0" "90" "X" "48895945" "48895945" "subst" "0" "00006" "TFE3_000030" "g.48895945G>A" "" "{PMID:Villegas 2019:30595499}, {PMID:Lehalle 2020:32409512}" "" "" "" "De novo" "" "" "0" "" "" "g.49038420G>A" "" "pathogenic (dominant)" "" "0000704407" "0" "90" "X" "48895942" "48895942" "subst" "0" "00006" "TFE3_000027" "g.48895942G>A" "" "{PMID:Villegas 2019:30595499}, {PMID:Lehalle 2020:32409512}" "" "" "" "De novo" "" "" "0" "" "" "g.49038417G>A" "" "pathogenic (dominant)" "" "0000704408" "0" "90" "X" "48895943" "48895943" "subst" "0" "00006" "TFE3_000029" "g.48895943T>G" "" "{PMID:Lehalle 2020:32409512}" "" "" "" "De novo" "" "" "0" "" "" "g.49038418T>G" "" "pathogenic (dominant)" "" "0000704409" "0" "90" "X" "48895930" "48895930" "subst" "0" "00006" "TFE3_000024" "g.48895930A>G" "" "{PMID:Lehalle 2020:32409512}" "" "" "" "De novo" "" "" "0" "" "" "g.49038405A>G" "" "pathogenic (dominant)" "" "0000704410" "0" "90" "X" "48895930" "48895930" "subst" "0" "00006" "TFE3_000024" "g.48895930A>G" "" "{PMID:Lehalle 2020:32409512}" "" "" "" "De novo" "" "" "0" "" "" "g.49038405A>G" "" "pathogenic (dominant)" "" "0000704411" "0" "90" "X" "48895900" "48895900" "subst" "0" "00006" "TFE3_000023" "g.48895900T>G" "" "{PMID:Villegas 2019:30595499}, {PMID:Lehalle 2020:32409512}" "" "" "" "De novo" "" "" "0" "" "" "g.49038375T>G" "" "pathogenic (dominant)" "" "0000704412" "0" "90" "X" "48895942" "48895942" "subst" "0" "00006" "TFE3_000028" "g.48895942G>T" "" "{PMID:Lehalle 2020:32409512}" "" "" "" "De novo" "" "" "0" "" "" "g.49038417G>T" "" "pathogenic (dominant)" "" "0000704413" "0" "90" "X" "48895721" "48895721" "subst" "0" "00006" "TFE3_000022" "g.48895721C>T" "" "{PMID:Lehalle 2020:32409512}" "" "" "" "De novo" "" "" "0" "" "" "g.49038196C>T" "" "pathogenic (dominant)" "" "0000704414" "0" "90" "X" "48895951" "48895951" "subst" "0" "00006" "TFE3_000031" "g.48895951T>C" "" "{PMID:Lehalle 2020:32409512}" "" "" "" "De novo" "" "" "0" "" "" "g.49038426T>C" "" "pathogenic (dominant)" "" "0000704415" "0" "90" "X" "48895942" "48895942" "subst" "0" "00006" "TFE3_000027" "g.48895942G>A" "" "{PMID:Lehalle 2020:32409512}" "" "" "" "De novo" "" "" "0" "" "" "g.49038417G>A" "" "pathogenic (dominant)" "" "0000704416" "0" "90" "X" "48895932" "48895932" "subst" "0" "00006" "TFE3_000025" "g.48895932G>C" "" "{PMID:Lehalle 2020:32409512}" "" "" "" "De novo" "" "" "0" "" "" "g.49038407G>C" "" "pathogenic (dominant)" "" "0000704417" "0" "90" "X" "48895936" "48895936" "subst" "0" "00006" "TFE3_000026" "g.48895936T>C" "" "{PMID:Lehalle 2020:32409512}" "" "" "" "De novo" "" "" "0" "" "" "g.49038411T>C" "" "pathogenic (dominant)" "" "0000704418" "0" "90" "X" "48896816" "48896816" "subst" "0" "00006" "TFE3_000033" "g.48896816C>T" "" "{PMID:Lehalle 2020:32409512}" "" "" "" "De novo" "" "" "0" "" "" "g.49039291C>T" "" "pathogenic (dominant)" "" "0000704419" "0" "90" "X" "48896816" "48896816" "subst" "0" "00006" "TFE3_000033" "g.48896816C>T" "" "{PMID:Lehalle 2020:32409512}" "" "" "0.88 mosaic" "Somatic" "" "" "0" "" "" "g.49039291C>T" "" "pathogenic (dominant)" "" "0000704420" "0" "90" "X" "48895942" "48895942" "subst" "0" "00006" "TFE3_000027" "g.48895942G>A" "" "{PMID:Lehalle 2020:32409512}" "" "" "" "De novo" "" "" "0" "" "" "g.49038417G>A" "" "pathogenic (dominant)" "" "0000704421" "0" "90" "X" "48895942" "48895942" "subst" "0" "00006" "TFE3_000010" "g.48895942G>C" "" "{PMID:Villegas 2019:30595499}, {PMID:Lehalle 2020:32409512}" "" "" "0.65 mosaic" "Somatic" "" "" "0" "" "" "g.49038417G>C" "" "pathogenic (dominant)" "" "0000704422" "0" "90" "X" "48896816" "48896816" "subst" "0" "00006" "TFE3_000033" "g.48896816C>T" "" "{PMID:Diaz 2020:32409512}" "" "" "" "De novo" "" "" "0" "" "" "g.49039291C>T" "" "pathogenic (dominant)" "" "0000704423" "0" "90" "X" "48895721" "48895721" "subst" "0" "00006" "TFE3_000022" "g.48895721C>T" "" "{PMID:Diaz 2020:32409512}" "" "" "" "De novo" "" "" "0" "" "" "g.49038196C>T" "" "pathogenic (dominant)" "" "0000728973" "0" "30" "X" "48887724" "48887724" "subst" "0.00010708" "01943" "TFE3_000034" "g.48887724G>A" "" "" "" "TFE3(NM_006521.5):c.1673C>T (p.A558V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728974" "0" "70" "X" "48895942" "48895942" "subst" "0" "02329" "TFE3_000010" "g.48895942G>C" "" "" "" "TFE3(NM_006521.6):c.560C>G (p.T187R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000728975" "0" "30" "X" "48896698" "48896698" "subst" "0.000125999" "01943" "TFE3_000035" "g.48896698G>A" "" "" "" "TFE3(NM_006521.5):c.468C>T (p.G156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728976" "0" "90" "X" "48896816" "48896816" "subst" "0" "02329" "TFE3_000033" "g.48896816C>T" "" "" "" "TFE3(NM_006521.6):c.350G>A (p.R117Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000810460" "0" "50" "X" "48887875" "48887875" "subst" "1.68447E-5" "02325" "TFE3_000036" "g.48887875C>T" "" "" "" "TFE3(NM_006521.6):c.1522G>A (p.D508N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810461" "0" "90" "X" "48896816" "48896816" "subst" "0" "02325" "TFE3_000033" "g.48896816C>T" "" "" "" "TFE3(NM_006521.6):c.350G>A (p.R117Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000867417" "0" "50" "X" "48887860" "48887860" "subst" "0" "01943" "TFE3_000037" "g.48887860G>C" "" "" "" "TFE3(NM_006521.5):c.1537C>G (p.L513V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867418" "0" "30" "X" "48891729" "48891729" "subst" "0.000256936" "01943" "TFE3_000038" "g.48891729C>T" "" "" "" "TFE3(NM_006521.5):c.923G>A (p.S308N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000904123" "0" "90" "X" "48896816" "48896816" "subst" "0" "01164" "TFE3_000033" "g.48896816C>T" "" "PMID: 31833172" "" "" "ACMG: PS2, PS4_SUP, PM1, PM5, PM2_SUP" "Germline/De novo (untested)" "?" "" "" "" "" "" "VCV001064791.7" "pathogenic (dominant)" "ACMG" "0000931427" "0" "50" "X" "48887805" "48887805" "subst" "6.30376E-5" "02325" "TFE3_000016" "g.48887805C>T" "" "" "" "TFE3(NM_006521.5):c.1592G>A (p.G531E), TFE3(NM_006521.6):c.1592G>A (p.G531E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951766" "0" "90" "X" "48896816" "48896816" "subst" "0" "02327" "TFE3_000033" "g.48896816C>T" "" "" "" "TFE3(NM_006521.6):c.350G>A (p.R117Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000954331" "0" "70" "X" "48895930" "48895930" "subst" "0" "00006" "TFE3_000024" "g.48895930A>G" "" "{PMID:Riquin 2023:37495270}" "" "" "ACMG PS2, PM1, PM2, PP3; gene now linked to intellectual disability" "De novo" "" "" "0" "" "" "g.49038405A>G" "" "likely pathogenic" "ACMG" "0000971135" "0" "30" "X" "48887817" "48887819" "del" "0" "02325" "TFE3_000039" "g.48887817_48887819del" "" "" "" "TFE3(NM_006521.6):c.1589_1591delAGG (p.E530del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984723" "0" "30" "X" "48895835" "48895835" "subst" "0.000237286" "01804" "TFE3_000009" "g.48895835C>T" "" "" "" "TFE3(NM_006521.5):c.667G>A (p.A223T), TFE3(NM_006521.6):c.667G>A (p.(Ala223Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044369" "0" "30" "X" "48895647" "48895647" "subst" "0" "01804" "TFE3_000040" "g.48895647A>C" "" "" "" "TFE3(NM_006521.6):c.781-8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044370" "0" "70" "X" "48896791" "48896796" "del" "0" "01804" "TFE3_000041" "g.48896791_48896796del" "" "" "" "TFE3(NM_006521.6):c.374_379del (p.(Ala125_Gln126del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 TFE3 ## Count = 56 "{{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}}" "0000006841" "00000548" "50" "117" "-88" "117" "-88" "c.117-88G>C" "r.(=)" "p.(=)" "" "0000006842" "00000548" "50" "-148" "0" "-148" "0" "c.-148A>C" "r.(?)" "p.(=)" "" "0000008914" "00000548" "50" "117" "-88" "117" "-88" "c.117-88G>C" "r.(=)" "p.(=)" "" "0000311794" "00000548" "10" "1323" "0" "1323" "0" "c.1323A>G" "r.(?)" "p.(Val441=)" "" "0000316481" "00000548" "30" "1408" "0" "1408" "0" "c.1408G>A" "r.(?)" "p.(Gly470Ser)" "" "0000316482" "00000548" "10" "1439" "0" "1439" "0" "c.1439G>C" "r.(?)" "p.(Gly480Ala)" "" "0000316483" "00000548" "30" "1629" "0" "1629" "0" "c.1629A>G" "r.(?)" "p.(Pro543=)" "" "0000316484" "00000548" "30" "375" "0" "375" "0" "c.375G>C" "r.(?)" "p.(Ala125=)" "" "0000316485" "00000548" "30" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Ala223Thr)" "" "0000334036" "00000548" "30" "1610" "0" "1610" "0" "c.1610C>T" "r.(?)" "p.(Ser537Leu)" "" "0000334037" "00000548" "50" "1450" "0" "1450" "0" "c.1450G>A" "r.(?)" "p.(Ala484Thr)" "" "0000334040" "00000548" "30" "26" "0" "26" "0" "c.26G>C" "r.(?)" "p.(Arg9Pro)" "" "0000393401" "00000548" "50" "1323" "0" "1323" "0" "c.1323A>G" "r.(=)" "p.(=)" "" "0000393402" "00000548" "50" "416" "0" "416" "0" "c.416C>T" "r.(?)" "p.(Ala139Val)" "" "0000576297" "00000548" "30" "1592" "0" "1592" "0" "c.1592G>A" "r.(?)" "p.(Gly531Glu)" "" "0000576298" "00000548" "30" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Pro495Leu)" "" "0000576299" "00000548" "30" "1451" "0" "1451" "0" "c.1451C>T" "r.(?)" "p.(Ala484Val)" "" "0000576300" "00000548" "30" "1439" "0" "1439" "0" "c.1439G>A" "r.(?)" "p.(Gly480Glu)" "" "0000576301" "00000548" "30" "415" "0" "415" "0" "c.415G>A" "r.(?)" "p.(Ala139Thr)" "" "0000576302" "00000548" "10" "26" "0" "26" "0" "c.26G>C" "r.(?)" "p.(Arg9Pro)" "" "0000624640" "00000548" "30" "1089" "0" "1089" "0" "c.1089C>T" "r.(?)" "p.(Asn363=)" "" "0000704405" "00000548" "90" "356" "0" "356" "0" "c.356A>C" "r.(?)" "p.(Gln119Pro)" "" "0000704406" "00000548" "90" "557" "0" "557" "0" "c.557C>T" "r.(?)" "p.(Pro186Leu)" "" "0000704407" "00000548" "90" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Thr187Met)" "" "0000704408" "00000548" "90" "559" "0" "559" "0" "c.559A>C" "r.(?)" "p.(Thr187Pro)" "" "0000704409" "00000548" "90" "572" "0" "572" "0" "c.572T>C" "r.(?)" "p.(Leu191Pro)" "" "0000704410" "00000548" "90" "572" "0" "572" "0" "c.572T>C" "r.(?)" "p.(Leu191Pro)" "" "0000704411" "00000548" "90" "602" "0" "602" "0" "c.602A>C" "r.(?)" "p.(Gln201Pro)" "" "0000704412" "00000548" "90" "560" "0" "560" "0" "c.560C>A" "r.(?)" "p.(Thr187Lys)" "" "0000704413" "00000548" "90" "780" "1" "780" "1" "c.780+1G>A" "r.spl" "p.?" "" "0000704414" "00000548" "90" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Glu184Gly)" "" "0000704415" "00000548" "90" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Thr187Met)" "" "0000704416" "00000548" "90" "570" "0" "570" "0" "c.570C>G" "r.(?)" "p.(His190Gln)" "" "0000704417" "00000548" "90" "566" "0" "566" "0" "c.566A>G" "r.(?)" "p.(Tyr189Cys)" "" "0000704418" "00000548" "90" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Arg117Gln)" "" "0000704419" "00000548" "90" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Arg117Gln)" "" "0000704420" "00000548" "90" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Thr187Met)" "" "0000704421" "00000548" "90" "560" "0" "560" "0" "c.560C>G" "r.(?)" "p.(Thr187Arg)" "" "0000704422" "00000548" "90" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Arg117Gln)" "" "0000704423" "00000548" "90" "780" "1" "780" "1" "c.780+1G>A" "r.spl" "p.?" "" "0000728973" "00000548" "30" "1673" "0" "1673" "0" "c.1673C>T" "r.(?)" "p.(Ala558Val)" "" "0000728974" "00000548" "70" "560" "0" "560" "0" "c.560C>G" "r.(?)" "p.(Thr187Arg)" "" "0000728975" "00000548" "30" "468" "0" "468" "0" "c.468C>T" "r.(?)" "p.(Gly156=)" "" "0000728976" "00000548" "90" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Arg117Gln)" "" "0000810460" "00000548" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Asp508Asn)" "" "0000810461" "00000548" "90" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Arg117Gln)" "" "0000867417" "00000548" "50" "1537" "0" "1537" "0" "c.1537C>G" "r.(?)" "p.(Leu513Val)" "" "0000867418" "00000548" "30" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Ser308Asn)" "" "0000904123" "00000548" "90" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Arg117Gln)" "3" "0000931427" "00000548" "50" "1592" "0" "1592" "0" "c.1592G>A" "r.(?)" "p.(Gly531Glu)" "" "0000951766" "00000548" "90" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Arg117Gln)" "" "0000954331" "00000548" "70" "572" "0" "572" "0" "c.572T>C" "r.(?)" "p.(Leu191Pro)" "" "0000971135" "00000548" "30" "1589" "0" "1591" "0" "c.1589_1591del" "r.(?)" "p.(Glu530del)" "" "0000984723" "00000548" "30" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Ala223Thr)" "" "0001044369" "00000548" "30" "781" "-8" "781" "-8" "c.781-8T>G" "r.(=)" "p.(=)" "" "0001044370" "00000548" "70" "374" "0" "379" "0" "c.374_379del" "r.(?)" "p.(Ala125_Gln126del)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{variantid}}" "0000000209" "0000006841" "0000000209" "0000006842" "0000000210" "0000008914" "0000173542" "0000393401" "0000173543" "0000393402" "0000321518" "0000704405" "0000321519" "0000704406" "0000321520" "0000704407" "0000321521" "0000704408" "0000321522" "0000704409" "0000321523" "0000704410" "0000321524" "0000704411" "0000321525" "0000704412" "0000321526" "0000704413" "0000321527" "0000704414" "0000321528" "0000704415" "0000321529" "0000704416" "0000321530" "0000704417" "0000321531" "0000704418" "0000321532" "0000704419" "0000321533" "0000704420" "0000321534" "0000704421" "0000321535" "0000704422" "0000321536" "0000704423" "0000426970" "0000904123" "0000446073" "0000954331"