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GUCY2D

guanylate cyclase 2D, retinal

HCNC Approved Symbol
GUCY2D (HGNC:4689)
Genomic Coordinates
17:8,002,615 - 8,020,342 (17p13.1)
Synonyms
retGC, RETGC-1, ROS-GC1, CYGD, LCA1, ROS-GC, CORD6, LCA, GUC2D, GUC1A4
Disease Associations
This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

40Patients

In total, 40 patients were diagnosed with a variant in the GUCY2D gene.

Frequently observed phenotypes

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

Photophobia
 9 (22.5%)
Retinal dystrophy
 9 (22.5%)
Retinitis pigmentosa
 
5 (12.5%)
Nystagmus
 
5 (12.5%)
Retinal disease
 
4 (10.0%)
GUCY2D - Gene browser | 3billion