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GENATLAS PHENOTYPE

last update :

Symbol	CTHMG
Location	19p13.11
Name	conotruncal heart malformations
Corresponding gene	GDF1
Main clinical features	heterozygous loss-of-function mutation contribute to cardiac defects ranging from tetralogy of Fallot to transposition of the great arteries
Genetic determination	autosomal dominant
Function/system disorder	cardiovascular
Type	malformation

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
various types		abnormal protein/loss of function

Remark(s)