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  2. BRIDGE_SPEED_NEURO_20170705
  3. GRIN2B
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BRIDGE_SPEED_NEURO_20170705

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

2 reviews

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known;in_omim_20150205_epilepsies . Main mutation mechanism : Loss of function; All missense/in frame
Created: 28 Jul 2017, 9:22 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Created: 2 Aug 2017, 3:51 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 12:04 p.m.
Created: 31 Jul 2017, 12:04 p.m.

Panel version: 0.75

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Mental retardation, autosomal dominant 6, 613970
  • Epileptic encephalopathy, early infantile, 27, 616139
OMIM
138252
Clinvar variants
Variants in GRIN2B
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for GRIN2B were set to Mental retardation, autosomal dominant 6, 613970; Epileptic encephalopathy, early infantile, 27, 616139

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GRIN2B was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

GRIN2B was created by LouiseD