EFEMP1

EFEMP1

EGF containing fibulin extracellular matrix protein 1

HCNC Approved Symbol: EFEMP1 (HGNC:3218)
Genomic Coordinates: 2:55,865,967 - 55,923,782 (2p16.1)
Synonyms: S1-5, FBLN3, MTLV, DHRD, FBNL
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the EFEMP1 gene.

Frequently observed phenotypes(Top 5 only)

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

02
Patient count

Retinitis pigmentosa: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Macular dystrophy: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)

Last updated: 2024-06-30