3billion
back to listBack to List

CEP83

centrosomal protein 83

HCNC Approved Symbol
CEP83 (HGNC:17966)
Genomic Coordinates
12:94,265,662 - 94,460,454 (12q22)
Synonyms
NY-REN-58, NPHP18, CCDC41
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the CEP83 gene.

Frequently observed phenotypes

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

Eczema
 2 (100.0%)
End stage renal failure
 2 (100.0%)
Hyperthyroidism
 2 (100.0%)
Learning difficulties
 2 (100.0%)
Prematurity
 2 (100.0%)
CEP83 - Gene browser | 3billion