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GENATLAS PHENOTYPE

last update : 06-07-2010

Symbol	HMG
Location	12p13.32
Name	hypomagnesemia
Corresponding gene	KCNA1
Main clinical features	primary hypomagnesemia is a heterogeneous group of disorders characterized by renal or intestinal magnesium (Mg2+) wasting, resulting in tetany, cardiac arrhythmias, and seizures
Genetic determination	autosomal dominant
Function/system disorder	metabolism/metal
Type	disease

Remark(s)

N255D mutation resulted in a nonfunctional channel, with a dominant negative effect on wild-type KCNA1 channel function ( Glaudemans 2009)