Retinal disordersGene: TIMP3
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:05 a.m.
Review by Andrew Webster (Moorfields Eye Hospital) from the Inherited macular dystrophy panel: "Heterozygosity for a finite set of missense alleles cause a dominant disorder. The pathogenesis is thought to involve polymerisation of the encoded protein by interfering with the number of cysteine amino acids in the residue. Most mutations are in exon 5 of the gene." Dec. 9, 2015, 11:22 a.m.
Gene rating: Green List (high evidence)
Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity: Other - please provide details in the comments
Review made: Panel Version: 0
Created: 18 Apr 2016, 12:45 p.m.
Source NHS GMS was added to TIMP3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of pathogenicity for TIMP3 was changed to Other - please provide details in the comments
This gene has been classified as Green List (High Evidence).
Mode of inheritance for TIMP3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TIMP3 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
TIMP3 was created by ellenmcdonagh