CRYGB

crystallin gamma B
OMIM: 123670, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red CRYGB in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cataract 39, multiple types, autosomal dominant, 615188
Red CRYGB in Structural eye disease


Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Cataract 39, multiple types, autosomal dominant, 615188