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GENATLAS PHENOTYPE
last update : 07-12-2018
Symbol HOMGSMR1
Location 10q24.32
Name hypomagnesemia, seizures, and mental retardation 1
Corresponding gene CNNM2
Other symbol(s) HOMG6
Main clinical features
  • severely lowered serum Mg values
  • hypomagnesemia, seizures, and mental retardation is characterized by onset of seizures associated with low serum magnesium in the first year of life with variable degrees of delayed psychomotor development, microcephaly, mental retardation, lack of speech, and very limited motor skills
  • urinary analysis showed abnormally high renal excretion of magnesium, and oral supplementation of magnesium failed to correct the low serum levels
    • Genetic determination autosomal dominant
    autosomal recessive
    Related entries including hypomagnesemia 6 (isolated hypomagnesemia), HOMG6
    Function/system disorder kidney and urinary tract
    Type disease
    Gene product
    Name cyclin M2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function PMID: 21397062
    frameshift   abnormal protein/loss of function PMID: 21397062
    Remark(s) heterozygous small deletion or missense deletion