PRKRA - Gene browser | 3billion

PRKRA

PRKRA

protein activator of interferon induced protein kinase EIF2AK2

HCNC Approved Symbol: PRKRA (HGNC:9438)
Genomic Coordinates: 2:178,431,414 - 178,451,175 (2q31.2)
Synonyms: PACT, RAX, HSD14, DYT16
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the PRKRA gene.

Frequently observed phenotypes(Top 5 only)

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

03
Patient count

Developmental regression: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Hemiparesis: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Dystonia: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)

Last updated: 2024-06-30

PRKRA - Gene browser | 3billion