Angelman Rett like syndromes
Gene: GRIN2BEnsemblGeneIds (GRCh38): ENSG00000273079
EnsemblGeneIds (GRCh37): ENSG00000273079
OMIM: 138252, Gene2Phenotype
GRIN2B is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 3 individuals reported as part of Rett-like cohorts.
Sources: Expert listCreated: 14 Nov 2020, 3:11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation, autosomal dominant 6, MIM# 613970; Developmental and epileptic encephalopathy 27, MIM# 616139
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Mental retardation, autosomal dominant 6, MIM# 613970
- Developmental and epileptic encephalopathy 27, MIM# 616139
- OMIM
- 138252
- Clinvar variants
- Variants in GRIN2B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: grin2b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: grin2b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GRIN2B was added gene: GRIN2B was added to Angelman Rett like syndromes. 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 31409060; 28734458 Phenotypes for gene: GRIN2B were set to Mental retardation, autosomal dominant 6, MIM# 613970; Developmental and epileptic encephalopathy 27, MIM# 616139 Review for gene: GRIN2B was set to GREEN