Epilepsy Plus
Gene: GRIN1EnsemblGeneIds (GRCh38): ENSG00000176884
EnsemblGeneIds (GRCh37): ENSG00000176884
OMIM: 138249, Gene2Phenotype
GRIN1 is in 6 panels
1 review
Louise Daugherty (Genomics England Curator)
Comment on mode of inheritance: Added publications to support the MOI. For NDHMSR, to date there are three unrelated consanguineous families with NDHMSR in the literature, Lemke et al. (2016) PMID: 27164704 and Rossi et al. (2017) PMID:28051072.
For NDHMSD to date there are 16 unrelated cases with NDHMSD in the literature, Lemke et al. (2016) PMID: 27164704 (a re-evaluation of some previous cases and new cases with NDHMSD) and Chen et al. (2017) PMID: 28228639Created: 5 Feb 2018, 9:32 a.m.
Comment on publications: Added new publicationsCreated: 5 Feb 2018, 9:31 a.m.
Comment on phenotypes: Added to phenotype due to update in OMIM.
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016). To date, there are 16 unrelated cases with NDHMSD in the literature, Lemke et al. (2016) PMID: 27164704 (a re-evaluation of some previous cases and new cases with NDHMSD) and Chen et al. (2017) PMID: 28228639.
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive (NDHMSR) is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development, severe intellectual disability, and involuntary movements, including stereotypic movements, spasticity, and dystonia. Affected individuals are are usually unable to walk independently and have poor or absent speech. Some patients have intractable seizures (summary by Lemke et al., 2016). The transmission pattern of NDHMSR in the families reported by Lemke et al. (2016) was consistent with autosomal recessive inheritance. PMID: 27164704. To date there are three unrelated consanguineous families with NDHMSR in the literature, Lemke et al. (2016) PMID: 27164704 and Rossi et al. (2017) PMID:28051072.Created: 5 Feb 2018, 9:30 a.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review
- Expert Review Green
- Phenotypes
-
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
- NDHMSD
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
- NDHMSR
- Mental retardation, autosomal dominant 8
- early onset epileptic encephalopathies
- involuntary movements
- severe developmental delay
- intellectual disability
- EPILEPTIC ENCEPHALOPATHY
- OMIM
- 138249
- Clinvar variants
- Variants in GRIN1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set publications
Louise Daugherty (Genomics England Curator)Publications for GRIN1 were set to 25864721; 23934111; 21376300; 28051072; 27164704; 28228639
Set publications
Louise Daugherty (Genomics England Curator)Publications for GRIN1 were set to PMID: 25864721; 23934111; 21376300; 28051072; 27164704; 28228639
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for GRIN1 were set to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant; NDHMSD; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive; NDHMSR; Mental retardation, autosomal dominant 8; early onset epileptic encephalopathies; involuntary movements; severe developmental delay; intellectual disability; EPILEPTIC ENCEPHALOPATHY
Added New Source
Ellen McDonagh (Genomics England Curator)GRIN1 was added to Epilepsy Pluspanel. Sources: Expert Review,Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)GRIN1 was created by ellenmcdonagh