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GENATLAS PHENOTYPE

last update : 25/08/2006

Symbol	NTDS1
Location	1p36.22
Name	neural tube defects, folate- sensitive
Corresponding gene	MTHFR
Other symbol(s)	NTD
Main clinical features	mutation C677T moderate risk factor in Italy and Canada in association with polymorphism of MTRR, highly prevalent in Mexico, risk further increased in association with nutritional factors and interactions with CBS polymorphism not confirmed in Netherlands and U.K.,or may be increased with MTR polymorphism
Genetic determination	multigenic
Function/system disorder	neurology
Type	susceptibility factor

Gene product

Name	methylenetetrahydrofolate reductase

Remark(s)