Malformations of cortical development
Gene: GRIN2BEnsemblGeneIds (GRCh38): ENSG00000273079
EnsemblGeneIds (GRCh37): ENSG00000273079
OMIM: 138252, Gene2Phenotype
GRIN2B is in 5 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 11:35 a.m. | Last Modified: 1 Feb 2023, 11:35 a.m.
Panel Version: 3.11
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 6 Dec 2021, 3:59 p.m. | Last Modified: 6 Dec 2021, 3:59 p.m.
Panel Version: 2.108
Zornitza Stark (Australian Genomics)
PMID: 28377535 - Neuroimaging was performed in 44 of 58 individuals: six unrelated individuals (6/44, 14%) showed a consistent MCD intermediate between typical polymicrogyria (PMG) and the cortical appearance of tubulinopathies, consisting of mixed large and small gyri separated by shallow sulci, a smooth grey-white border and little infolding. These individuals also had hypoplastic corpus callosum of varying degrees, enlarged and mildly dysplastic basal ganglia, hippocampal dysplasia with thick leaves and open hilus as well as enlarged tecta. One had no septum pellucidum. Generalised cerebral volume loss, compatible with cerebral atrophy, was described in four additional patients (4/44; 9%).
Sources: Expert listCreated: 27 Aug 2020, 11:11 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation, autosomal dominant 6, MIM# 613970
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970
- OMIM
- 138252
- Clinvar variants
- Variants in GRIN2B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_21_rating was removed from gene: GRIN2B.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to GRIN2B. Source NHS GMS was added to GRIN2B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: grin2b has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_rating tag was added to gene: GRIN2B.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: GRIN2B were changed from Mental retardation, autosomal dominant 6, MIM# 613970 to Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: GRIN2B was added gene: GRIN2B was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: GRIN2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GRIN2B were set to 28377535 Phenotypes for gene: GRIN2B were set to Mental retardation, autosomal dominant 6, MIM# 613970 Review for gene: GRIN2B was set to GREEN