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FLASH GENE
Symbol TBX20 contributors: mct/npt/pgu - updated : 04-08-2015
HGNC name T-box 20
HGNC id 11598
ASSOCIATED DISORDERS
corresponding disease(s) ASD4
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
associated with a complex spectrum of developmental and functional abnormalities, including defects in septation, valvulogenesis, and chamber growth and dilated cardiomyopathy
constitutional germinal mutation      
also associated with ASD and mitral valve disease
constitutional     --over  
in ventricular tissue from CHD patients which may cause an increased activity in cardiomyocytes
constitutional germinal mutation     gain of function
is associated with congenital atrial septal defects, patent foramen ovale and cardiac valve defects
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • Tbx20 null mouse embryos display hypoplastic hearts and die at mid-gestation