1. Genes and Genomic Entities
  2. GNB3

GNB3

G protein subunit beta 3
OMIM: 139130, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red GNB3 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • GNB3 Autosomal-Recessive Congenital Stationary Night Blindness.
    Green GNB3 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.89
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • RetNet
    Phenotypes
    • Night blindness, congenital stationary, type 1H, OMIM:617024, MONDO:0014872