Polymicrogyria and Schizencephaly
Gene: GRIN1

GRIN1 (glutamate ionotropic receptor NMDA type subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000176884
EnsemblGeneIds (GRCh37): ENSG00000176884
OMIM: 138249, Gene2Phenotype
GRIN1 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: All variants occurred between residues 559 and 828, and there may be an association between variant location and PMG.
Created: 27 Aug 2020, 10:54 p.m. | Last Modified: 27 Aug 2020, 10:54 p.m.

Panel Version: 0.138

Created: 27 Aug 2020, 10:54 p.m.
Last Modified: 27 Aug 2020, 10:54 p.m.
Panel version: 0.138

Lauren Akesson (Royal Melbourne Hospital)

Green List (high evidence)

PMID: 29365063 - series of 11 unrelated individuals with GRIN1 variants and polymicrogyria
Created: 21 May 2020, 1:29 a.m. | Last Modified: 21 May 2020, 1:29 a.m.

Panel Version: 0.57

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
GRIN1-related neurodevelopmental disorder

Publications

PMID: 29365063

Created: 21 May 2020, 1:29 a.m.
Last Modified: 21 May 2020, 1:29 a.m.
Panel version: 0.57

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Brain Malformations Flagship

Phenotypes

Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254

OMIM

138249

Clinvar variants

Variants in GRIN1

Penetrance

None

Publications

29365063

Panels with this gene