Cerebral Palsy
Gene: GRIN2AEnsemblGeneIds (GRCh38): ENSG00000183454
EnsemblGeneIds (GRCh37): ENSG00000183454
OMIM: 138253, Gene2Phenotype
GRIN2A is in 8 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual with mono-allelic frameshift deletion and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Sources: LiteratureCreated: 27 May 2024, 6:03 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epilepsy, focal, with speech disorder and with or without impaired intellectual development, MIM#245570
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Epilepsy, focal, with speech disorder and with or without impaired intellectual development, MIM#245570
- OMIM
- 138253
- Clinvar variants
- Variants in GRIN2A
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: grin2a has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: grin2a has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: GRIN2A was added gene: GRIN2A was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GRIN2A were set to PMID: 38693247 Phenotypes for gene: GRIN2A were set to Epilepsy, focal, with speech disorder and with or without impaired intellectual development, MIM#245570 Review for gene: GRIN2A was set to RED