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DDG2P

Gene: GRIN2A

Green List (high evidence)

GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A)
EnsemblGeneIds (GRCh38): ENSG00000183454
EnsemblGeneIds (GRCh37): ENSG00000183454
OMIM: 138253, Gene2Phenotype
GRIN2A is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders).
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LANDAU-KLEFFNER SYNDROME 245570
  • EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS 613971
OMIM
138253
Clinvar variants
Variants in GRIN2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes LANDAU-KLEFFNER SYNDROME 245570 for gene: GRIN2A Publications for gene GRIN2A were changed from 20890276; 23033978 to 23933818

19 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: GRIN2A was added gene: GRIN2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRIN2A were set to 20890276; 23033978 Phenotypes for gene: GRIN2A were set to EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS 613971