CNNM2

cyclin and CBS domain divalent metal cation transport mediator 2
OMIM: 607803
PanelMode of inheritanceDetails
3 panels
R-numbers: R59
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypomagnesemia, seizures, and mental retardation 616418
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism), Hypomagnesemia 6, renal 613882, Hypomagnesemia, seizures, and mental retardation 616418
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypomagnesemia, seizures, and mental retardation 616418