All individuals with variants in gene TBC1D24

37 entries on 1 page. Showing entries 1 - 37.
Legend  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age/Death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00000370 - - - F - ? (unknown) - - - - - - - 2 1 Laurent Villard
00004090 - - - - - - Arab-Israeli - 0 - - epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy - 1 1 Philippe Campeau
00004091 - PubMed: Falace A et al 2010 Falace A et al. Am J Hum Genet 2010; 87(3): 365-70. - - - Italian - 0 - - FIME - 2 1 Philippe Campeau
00004092 - PubMed: Guven A 2013 - - - - Turkish - 0 - - epilepsy, myoclonic, dystonia, hemiparesis, autonomic signs, lethargy, progressive diffuse cerebral atrophy - 1 1 Philippe Campeau
00004093 - PubMed: Campeau et al 1 - - - - - 0 - - DOORS - 2 1 Philippe Campeau
00004094 - PubMed: Campeau et al 2a - - - - - 0 - - DOORS - 1 1 Philippe Campeau
00004095 - PubMed: Campeau et al 3 - - - - - 0 - - DOORS - 2 1 Philippe Campeau
00004096 - PubMed: Campeau et al 2b - - - - - 0 - - DOORS - 1 1 Philippe Campeau
00004097 - PubMed: Campeau et al 4 - - - - - 0 - - DOORS - 1 1 Philippe Campeau
00004098 - PubMed: Campeau et al 5a - - - - - 0 - - DOORS - 2 1 Philippe Campeau
00004099 - PubMed: Campeau et al 5b - - - - - 0 - - DOORS - 2 1 Philippe Campeau
00004100 - PubMed: Campeau et al 6 - - - - - 0 - - DOORS - 1 1 Philippe Campeau
00004101 - PubMed: Campeau et al 7 - - - - - 0 - - DOORS - 1 1 Philippe Campeau
00004102 - PubMed: Campeau et al 8 - - - - - 0 - - DOORS - 1 1 Philippe Campeau
00004103 - PubMed: Campeau et al 9 - - - - - 0 - - DOORS - 2 1 Philippe Campeau
00004158 - PubMed: Rehman et al., 2014 - F yes Pakistan - - 0 - - DFNB-86 - 1 1 Philippe Campeau
00004159 - PubMed: Rehman et al., 2014 - M yes Pakistan - - 0 - - DFNB-86 - 1 1 Philippe Campeau
00016188 24729539-Fam PubMed: Azaiez 2014 4-generation family, 13 affecteds (5F, 8M) F;M no United States Caucasian - 0 - - HL - 1 13 Hela Azaiez
00016189 - PubMed: Zhang 2014 4-generation family, 11 affected (5F, 6M) F;M no China Chinese - 0 - - DFNA nonsyndromic, bilateral, slowly progressive hearing impairment, starting mildly in high frequencies; age onset late 20s, hearing impairment gradually progressed to all frequencies later, eventually reached severe-to-profound in seventh decade; absent or abnormal otoacoustic emission, no evidence of vestibular dysfunction, no inner ear malformation observed by CT scanning 1 11 Tao Yang
00016322 - - - M no Italy - - 0 - - EE diagnosis: epileptic encephalopathy and pervasive developmental disorder 1 1 Lab Zuffardi
00017865 - - - M no Australia - - 0 - - DOORS DOORS syndrome 2 1 Philippe Campeau
00025006 - PubMed: Muona et al - F ? Afghanistan - - 0 - - myoclonus epilepsy with ataxia, progressive Onset with tonic seizures at 36 hours. Developmental delay with later regression. Myoclonus noted from 8 months. TCS from 3.5 years. Ataxia, spasticity, supranuclear gaze palsy. Visual decline. Initially regarded as an epileptic encephalopathy but florid PME pattern apparent by age 9. 1 1 Philippe Campeau
00059050 - Karen Avraham laboratory, Tel Aviv university, Israel, unpublished - - no Israel Arab - 0 - - DFNB-86 - 1 3 Zippi Brownstein
00116809 S_114:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00116855 S_20:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00116858 S_204:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00116891 S_285:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00116901 S_307:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00116970 S_478:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00116979 S_495:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00117012 S_561:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00117013 S_562:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00117019 S_569:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - 0 - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117049 S_619:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - 0 - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117056 S_63:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00163777 - - - M yes - - - 0 - - DFNB-86 - 1 1 Nada Danial-Farran
00208756 - - - F - Germany - - 0 - - - HP:0002069 (Generalized tonic-clonic seizures); HP:0002121 (Absence seizures) 1 1 Andreas Laner
Legend  

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