CEP78 - Gene browser | 3billion

CEP78

CEP78

centrosomal protein 78

HCNC Approved Symbol: CEP78 (HGNC:25740)
Genomic Coordinates: 9:78,236,075 - 78,279,690 (9q21.2)
Synonyms: FLJ12643, C9orf81
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the CEP78 gene.

Frequently observed phenotypes(Top 5 only)

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

04
Patient count

Retinitis pigmentosa: 3 (75.0%)
Patient Count: 3 (75.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (75.0%)
Night blindness: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Reduced visual acuity: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Cone-rod dystrophy: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)

Last updated: 2024-06-30

CEP78 - Gene browser | 3billion