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

Details of Gene

Item Details
Gene/Locus name

RPGR (also called CORDX1)

Long Name

retinitis pigmentosa GTPase regulator (OMIM 312610)

Associated Disorders

OMIM 300834 : Macular degeneration, X-linked atrophic
OMIM 304020 : Cone-rod dystrophy, X-linked, 1
OMIM 300455 : Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
OMIM 300029 : Retinitis pigmentosa 3

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