TIMP3:Ensemblv115

TIMP metallopeptidase inhibitor 3
OMIM: 188826, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green TIMP3 in Macular Dystrophy/Stargardt Disease


Level 2: Ophthalmological disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Sorsby fundus dystrophy, MIM# 136900