All individuals with variants in gene TOR1AIP1

10 entries on 1 page. Showing entries 1 - 10.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00103978 - - - - no - (not applicable) - - 0 - - ? - 2 1 Davor Lessel
00103987 24856141-Fam PubMed: Kayman-Kurekci 2014, Journal: Kayman-Kurekci 2014 4-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents/sibs F;M yes Turkey - - 0 - - LGMD-2Y see paper; ..., proximal/distal weakness/atrophy, rigid spine, contractures proximal/distal interphalangeal hand joints, cardiomyopathy, respiratory involvement 1 3 Johan den Dunnen
00103988 25425325-FamPatV1 PubMed: Dorboz 2014, Journal: Dorboz 2014 5-generation family, 1 affected, unaffected heterozygous carrier parents/sibs M yes Morocco - - 0 - - ? see paper; ..., rapidly progressing dystonia, progressive cerebellar atrophy, dilated cardiomyopathy 1 1 Johan den Dunnen
00208776 - - - - - Israel Arab Muslim - 0 - - CCTRCT congenital cataract congenital heart defects profound infantile onset neurological impairment growth retardation congenital hypotonia deafness microcephaly facial dysmorphism 1 7 Ronen Spiegel
00265906 PatD4 PubMed: Cummings 2017 - - - - - - 0 - - MD - 2 1 Johan den Dunnen
00289605 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00289606 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 49 Mohammed Faruq
00289607 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 5 Mohammed Faruq
00295550 - - - M - - - - 0 - - ? Myofibrillar myopathy (HP:0003715) 1 1 Andreas Laner
00304167 - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
Legend