Retinal disorders
Gene: TIMP3

TIMP3 (TIMP metallopeptidase inhibitor 3)
EnsemblGeneIds (GRCh38): ENSG00000100234
EnsemblGeneIds (GRCh37): ENSG00000100234
OMIM: 188826, Gene2Phenotype
TIMP3 is in 3 panels

2 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

Ellen McDonagh (Genomics England Curator)

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.

Created: 18 Apr 2016, 12:45 p.m.

Panel version: 0.159

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

NHS GMS
Expert Review Green

Phenotypes

Sorsby fundus dystrophy
Eye Disorders
Macular Dystrophy/Degeneration/Stargardt Disease

OMIM

188826

Clinvar variants

Variants in TIMP3

Penetrance

Complete

Mode of Pathogenicity

Other - please provide details in the comments

Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TIMP3. Rating Changed from Green List (high evidence) to Green List (high evidence)

18 Apr 2016, Gel status: 4