Hypomagnesemia 1 (TRPM6)

Hypomagnesemia 1 is an autosomal recessive disorder caused by pathogenic variants in the gene TRPM6. The onset of this condition occurs at birth or in infancy. This disorder is characterized by painful muscle spasms that do not respond to calcium treatment, seizures, failure to thrive, restlessness, tremors, and perioral cyanosis (bluish discoloration of the skin around the mouth from poor circulation). Cardiac arrhythmia may be observed. Current treatment includes lifelong administration of magnesium. If left uncontrolled or treated too late, this condition could be fatal. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):