Malformations of cortical development
Gene: GRIN1
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
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
PMID: 29365063 - series of 11 unrelated individuals with GRIN1 variants and polymicrogyria
Sources: Expert listCreated: 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
Tag Q3_21_rating was removed from gene: GRIN1.
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)
Mode of inheritance for gene: GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag Q3_21_rating tag was added to gene: GRIN1.
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
Publications for gene: GRIN1 were set to 29365063
Gene: grin1 has been classified as Amber List (Moderate Evidence).
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
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