Structural eye disease
Gene: TIMP3

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sorsby fundus dystrophy; 136900

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sorsby fundus dystrophy, 136900

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Red

Phenotypes

Sorsby fundus dystrophy, 136900
Eye Disorders

OMIM

188826

Clinvar variants

Variants in TIMP3

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TIMP3. Mode of inheritance for gene TIMP3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Sorsby fundus dystrophy, 136900 for gene: TIMP3

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: TIMP3 was added gene: TIMP3 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TIMP3 was set to Phenotypes for gene: TIMP3 were set to Eye Disorders

Structural eye disease Gene: TIMP3