GABBR1

gamma-aminobutyric acid type B receptor subunit 1
OMIM: 603540, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green GABBR1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502

Red GABBR1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502

    Green GABBR1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502