TIMP3

TIMP metallopeptidase inhibitor 3
OMIM: 188826, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red TIMP3 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.42

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Green TIMP3 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.285
Latest signed off version: v2.195 (5 Aug 2021)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Sorsby fundus dystrophy
  • Eye Disorders
  • Macular Dystrophy/Degeneration/Stargardt Disease

Red TIMP3 in Structural eye disease


Version 1.132
Latest signed off version: v1.3 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Sorsby fundus dystrophy, 136900
  • Eye Disorders