CEP290 - Gene browser

CEP290

centrosomal protein 290

HCNC Approved Symbol: CEP290 (HGNC:29021)
Genomic Coordinates: 12:88,049,016 - 88,142,088 (12q21.32)
Synonyms: KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

58Patients

In total, 58 patients were diagnosed with a variant in the CEP290 gene.

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

058
Patient count

Retinitis pigmentosa: 13 (22.4%)
Patient Count: 13 (22.4%)
% of total patients presenting each phenotype is shown in parentheses.
13 (22.4%)
Nystagmus: 8 (13.8%)
Patient Count: 8 (13.8%)
% of total patients presenting each phenotype is shown in parentheses.
8 (13.8%)
Night blindness: 7 (12.1%)
Patient Count: 7 (12.1%)
% of total patients presenting each phenotype is shown in parentheses.
7 (12.1%)
Intellectual disability: 6 (10.3%)
Patient Count: 6 (10.3%)
% of total patients presenting each phenotype is shown in parentheses.
6 (10.3%)
Congenital amaurosis: 5 (8.6%)
Patient Count: 5 (8.6%)
% of total patients presenting each phenotype is shown in parentheses.
5 (8.6%)