TIMP3 - Gene browser | 3billion

TIMP3

TIMP3

TIMP metallopeptidase inhibitor 3

HCNC Approved Symbol: TIMP3 (HGNC:11822)
Genomic Coordinates: 22:32,801,705 - 32,863,041 (22q12.3)
Synonyms: SFD
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

5Patients

In total, 5 patients were diagnosed with a variant in the TIMP3 gene.

Frequently observed phenotypes(Top 5 only)

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

05
Patient count

Vision issue: 3 (60.0%)
Patient Count: 3 (60.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (60.0%)
Retinitis pigmentosa: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Abnormality of vision: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Drusen: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)

Last updated: 2024-06-30

TIMP3 - Gene browser | 3billion