GRIN1

glutamate ionotropic receptor NMDA type subunit 1
OMIM: 138249, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green GRIN1 in Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.23
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Cerebral malformation
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254
    • intellectual disability, autosomal dominant 8 MONDO:0013655
    Red GRIN1 in Autism


    Version 0.36

    review Not set
    Sources
    • Expert Review Red
    • SFARI
    Green GRIN1 in Fetal anomalies


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254
    • intellectual disability, autosomal dominant 8 MONDO:0013655
    • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820
    • neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629
    Green GRIN1 in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254
    • intellectual disability, autosomal dominant 8 MONDO:0013655
    Green GRIN1 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.175
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Expert Review
    • Expert Review Green
    Phenotypes
    • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254
    • intellectual disability, autosomal dominant 8 MONDO:0013655
    • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820
    • neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629
    Green GRIN1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.477
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254
    • intellectual disability, autosomal dominant 8 MONDO:0013655
    • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820
    • neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629
    Green GRIN1 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.71
    Latest signed off version: v3.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254
    • intellectual disability, autosomal dominant 8 MONDO:0013655
    • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820
    • neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629
    Green GRIN1 in Severe Paediatric Disorders


    Version 1.182

    review 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