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Macular Dystrophy/Stargardt Disease
Gene: TIMP3

TIMP3 (TIMP metallopeptidase inhibitor 3)
EnsemblGeneIds (GRCh38): ENSG00000100234
EnsemblGeneIds (GRCh37): ENSG00000100234
OMIM: 188826, Gene2Phenotype
TIMP3 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sorsby fundus dystrophy is an autosomal dominant retinal dystrophy characterized by the loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life. Multiple families and functional data.
Created: 31 Mar 2022, 7:38 p.m. | Last Modified: 31 Mar 2022, 7:38 p.m.

Panel Version: 0.31

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sorsby fundus dystrophy, MIM# 136900

Publications

Created: 31 Mar 2022, 7:38 p.m.
Last Modified: 31 Mar 2022, 7:38 p.m.
Panel version: 0.31

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Sorsby fundus dystrophy, MIM# 136900

OMIM

Clinvar variants

Variants in TIMP3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

31 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: timp3 has been classified as Green List (High Evidence).

31 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TIMP3 were changed from Sorsby fundus dystrophy to Sorsby fundus dystrophy, MIM# 136900

31 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TIMP3 were set to

31 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TIMP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

31 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TIMP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TIMP3 was added gene: TIMP3 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TIMP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TIMP3 were set to Sorsby fundus dystrophy