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GENATLAS PHENOTYPE

last update : 18/11/2005

Symbol	CART
Location	8p21
Name	persistent truncus arteriosus
Other name(s)	conotruncal heart malformations
Corresponding gene	NKX2-6
Other symbol(s)	CTHM
Main clinical features	common arterial trunk, attributed to incomplete septation of the truncus arteriosus
Genetic determination	autosomal recessive
Function/system disorder	cardiovascular
Type	malformation

Gene product

Name	homeobox protein NKX2-6

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function	F151L homeo domain substitution

Remark(s)