Cerebral Palsy
Gene: GRIN1EnsemblGeneIds (GRCh38): ENSG00000176884
EnsemblGeneIds (GRCh37): ENSG00000176884
OMIM: 138249, Gene2Phenotype
GRIN1 is in 8 panels
1 review
Luisa Weiss (University of Adelaide)
3 individuals in a large CP cohort study with heterozygous mutations in GRIN1, two of which reported to be de novo. Another single patient in a large cohort study with heterozygous de novo mutation. All of these mutations are missense mutations. Note that there are other disorders associated with this gene that are due to biallelic mutations in GRIN1, however, for CP only heterozygous mutations are described so far.
Sources: LiteratureCreated: 5 Jun 2023, 2:49 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant MIM#614254 AD
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant MIM#614254 AD
- OMIM
- 138249
- Clinvar variants
- Variants in GRIN1
- 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: grin1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: grin1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: GRIN1 was added gene: GRIN1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: GRIN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GRIN1 were set to 33528536; 34788679 Phenotypes for gene: GRIN1 were set to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant MIM#614254 AD Review for gene: GRIN1 was set to GREEN