Genomics England
GMS Panels
Panels
Genes and Entities

CNNM2

cyclin and CBS domain divalent metal cation transport mediator 2
OMIM: 607803
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CNNM2-related neurodevelopmental disorder with hypomagnesemia, autosomal recessive form
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypomagnesemia, seizures, and mental retardation, OMIM:616418, Hypomagnesemia, seizures, and mental retardation, MONDO:0014631
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypomagnesemia, seizures, and mental retardation, OMIM:616418, Hypomagnesemia, seizures, and mental retardation, MONDO:0014631
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.0
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
Green
in Renal tubulopathies
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R198
Signed-off version 4.18
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Hypomagnesemia 6, renal, OMIM:613882, Hypomagnesemia, seizures, and mental retardation, OMIM:616418, renal hypomagnesemia 6, MONDO:0013480, Hypomagnesemia, seizures, and mental retardation, MONDO:0014631