Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 18/07/2006

Symbol	CTHM1
Location	2q21.1
Name	conotruncal heart malformations 1
Corresponding gene	CFC1
Other symbol(s)	CTHM
Main clinical features	transposition of the great arteries and double-outlet right ventricle
Genetic determination	autosomal recessive
Function/system disorder	cardiovascular
Type	malformation

Gene product

Name	EGF-CFC gene (cryptic), cofactor for Nodal-related signals

Remark(s)