DKC1 - Gene browser

DKC1

dyskerin pseudouridine synthase 1

HCNC Approved Symbol: DKC1 (HGNC:2890)
Genomic Coordinates: 23:154,762,864 - 154,777,689 (Xq28)
Synonyms: XAP101, dyskerin, NAP57, NOLA4, Cbf5, DKC
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

8Patients

In total, 8 patients were diagnosed with a variant in the DKC1 gene.

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

08
Patient count

Bone marrow failure: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Pancytopenia: 1 (12.5%)
Patient Count: 1 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
1 (12.5%)
Abnormal fingerprints: 1 (12.5%)
Patient Count: 1 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
1 (12.5%)
Anonychia of fingernails: 1 (12.5%)
Patient Count: 1 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
1 (12.5%)
Anonychia of toenails: 1 (12.5%)
Patient Count: 1 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
1 (12.5%)