CHMP4B

charged multivesicular body protein 4B
OMIM: 610897, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green CHMP4B in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.17
Signed off v.2.2 on 19 Feb 2020

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


Version 1.12
Signed off v.1.3 on 4 Mar 2020

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