CERKL

CERKL

ceramide kinase like

HCNC Approved Symbol: CERKL (HGNC:21699)
Genomic Coordinates: 2:181,536,672 - 181,657,105 (2q31.3)
Synonyms: RP26
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

3billion 유전진단 검사 알아보기

Diagnosed Cases

12Patients

In total, 12 patients were diagnosed with a variant in the CERKL gene.

Frequently observed phenotypes(Top 5 only)

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

012
Patient count

Retinitis pigmentosa: 5 (41.7%)
Patient Count: 5 (41.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (41.7%)
Abnormal electroretinogram: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Color vision defect: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Nyctalopia: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Photophobia: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)

Last updated: 2024-06-30