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  3. GRIN1
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Malformations of cortical development

Gene: GRIN1

Green List (high evidence)
GRIN1 (glutamate ionotropic receptor NMDA type subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000176884
EnsemblGeneIds (GRCh37): ENSG00000176884
OMIM: 138249, Gene2Phenotype
GRIN1 is in 6 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 11:35 a.m. | Last Modified: 1 Feb 2023, 11:35 a.m.
Panel Version: 3.11
Created: 1 Feb 2023, 11:35 a.m.
Last Modified: 1 Feb 2023, 11:35 a.m.
Panel version: 3.11

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: Although the MOI could be listed as "both mono and biallelic" in order to agree with the MOI listed in OMIM:138249, this was not done on this panel, as the phenotypes of malformation of cortical development have not been reported with biallelic variants.
Created: 14 Sep 2021, 5:27 p.m. | Last Modified: 14 Sep 2021, 5:27 p.m.
Panel Version: 2.90
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen, although there is a confirmed association with epileptic encephalopathy in Gen2Phen. Nine de novo GRIN1 variants in eleven cases of bilateral polymicrogyria have been reported by Fry et al (PMID: 29365063), analysis of available samples from parents confirmed the de novo occurance of these GRIN1 variants.
Created: 14 Sep 2021, 4:58 p.m. | Last Modified: 14 Sep 2021, 4:58 p.m.
Panel Version: 2.89
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 14 Sep 2021, 1:50 p.m. | Last Modified: 14 Sep 2021, 1:50 p.m.
Panel Version: 2.87

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 14 Sep 2021, 1:50 p.m.
Last Modified: 14 Sep 2021, 1:50 p.m.
Panel version: 2.89

Zornitza Stark (Australian Genomics)

Green List (high evidence)

PMID: 29365063 - series of 11 unrelated individuals with GRIN1 variants and polymicrogyria
Sources: Expert list
Created: 27 Aug 2020, 10:49 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 27 Aug 2020, 10:49 p.m.

Panel version: 2.13

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254
  • intellectual disability, autosomal dominant 8 MONDO:0013655
OMIM
138249
Clinvar variants
Variants in GRIN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_rating was removed from gene: GRIN1.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to GRIN1. Source NHS GMS was added to GRIN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Sep 2021, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

14 Sep 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: GRIN1.

14 Sep 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GRIN1 were changed from Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, OMIM:614254 to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254; intellectual disability, autosomal dominant 8 MONDO:0013655

14 Sep 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GRIN1 were set to 29365063

14 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: grin1 has been classified as Amber List (Moderate Evidence).

14 Sep 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: GRIN1 were changed from Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254 to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, OMIM:614254

27 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: GRIN1 was added gene: GRIN1 was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: GRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GRIN1 were set to 29365063 Phenotypes for gene: GRIN1 were set to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254 Review for gene: GRIN1 was set to GREEN gene: GRIN1 was marked as current diagnostic