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  2. Intellectual_disability
  3. GRIN2B
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Intellectual_disability

Gene: GRIN2B

Green List (high evidence)
GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B)
EnsemblGeneIds (GRCh38): ENSG00000273079
EnsemblGeneIds (GRCh37): ENSG00000273079
OMIM: 138252, Gene2Phenotype
GRIN2B is in 5 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Known gene (Grozeva et al, 2015)
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental Retardation, Dominant
  • Mental retardation, autosomal dominant 6, 613970
  • Intellectual disability
OMIM
138252
Clinvar variants
Variants in GRIN2B
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

GRIN2B was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

GRIN2B was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GRIN2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

GRIN2B was added to Intellectual_disabilitypanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GRIN2B was added to Intellectual_disabilitypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen