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CRB1

crumbs cell polarity complex component 1

HCNC Approved Symbol
CRB1 (HGNC:2343)
Genomic Coordinates
1:197,201,504 - 197,478,455 (1q31.3)
Synonyms
LCA8, RP12
Disease Associations
This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

60Patients

In total, 60 patients were diagnosed with a variant in the CRB1 gene.

Frequently observed phenotypes

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

Retinitis pigmentosa
 23 (38.3%)
Retinal dystrophy
 13 (21.7%)
Retinal disease
 
7 (11.7%)
Visual impairment
 
7 (11.7%)
Congenital amaurosis
 
6 (10.0%)
CRB1 - Gene browser | 3billion