GNB2

G protein subunit beta 2
OMIM: 139390, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red GNB2 in Mosaic skin disorders - deep sequencing


Version 1.23
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Sturge-Weber syndrome, somatic, mosaic, OMIM:185300
Tags
  • somatic

Red GNB2 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.572
Latest signed off version: v2.2 (13 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Sturge-Weber syndrome, somatic, mosaic, OMIM:185300
Tags
  • somatic

Green GNB2 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with hypotonia and dysmorphic facies, OMIM:619503