[Error loading the WebPart 'GTL_RCPAGeneticsLogin' of type 'RCPALogin']

Details of Gene

Item Details
Gene/Locus name

EFEMP1 (also called S1-5,FBLN3,MTLV)

Long Name

EGF containing fibulin extracellular matrix protein 1 (OMIM 601548)

Laboratories
Associated Disorders

OMIM 126600 : Doyne honeycomb degeneration of retina

Interpretation / Comment

Laboratory methods do not necessarily identify all of the clinically significant variants in a gene. The failure to identify a variant does not necessarily mean that the gene is normal. Variants in a gene may cause more than one disease, and the identification of a clinically significant variant does not necessarily indicate the specific disease that the patient or relatives may be at risk of developing. Conversely, the disease/s associated with a gene might also be caused by mutations in other genes, and the failure to identify a clinically significant variant in one gene does not necessarily alter the clinical diagnosis or risk for relatives.

HGNC Last Edit Date

12/10/2017