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Research panel - Severe Paediatric Disorders

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: GRIN1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 (3) | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:20 p.m. | Last Modified: 20 Feb 2020, 5:20 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:20 p.m.
Last Modified: 20 Feb 2020, 5:20 p.m.
Panel version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254
OMIM
138249
Clinvar variants
Variants in GRIN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene GRIN1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene GRIN1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 for gene: GRIN1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 for gene: GRIN1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 for gene: GRIN1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 for gene: GRIN1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to GRIN1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to GRIN1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: GRIN1 was added gene: GRIN1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: GRIN1 was set to