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GENATLAS PHENOTYPE

last update : 24/05/2006

Symbol	AVSD2
Location	3p25
Name	atrioventricular septal defect 2
Other name(s)	atrioventricular canal defect 1
Corresponding gene	CRELD1
Main clinical features	frequently observed in the 3pdel syndrome
Genetic determination	multigenic
Function/system disorder	cardiovascular
Type	susceptibility factor

Gene product

Name	cysteine-rich with EGF-like domains 1

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense			R329C, frequent mutation, with greater severity in Down syndrome