GRIN2B

glutamate ionotropic receptor NMDA type subunit 2B
OMIM: 138252
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
EPILEPTIC ENCEPHALOPATHY, AUTISM 209850, MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 613970
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970, Developmental and epileptic encephalopathy 27, OMIM:616139
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970, Developmental and epileptic encephalopathy 27, OMIM:616139
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970, Developmental and epileptic encephalopathy 27, OMIM:616139
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 5.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970