CHMP4B

charged multivesicular body protein 4B
OMIM: 610897, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green CHMP4B in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 7.6
Latest signed off version: v7.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cataract 31, multiple types, 605387
Red CHMP4B in Structural eye disease


Level 2: Ophthalmology
Version 4.37
Latest signed off version: v4.0 (7 Aug 2024)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Cataract 31, multiple types, 605387