PHKA2 - Gene browser

PHKA2

phosphorylase kinase regulatory subunit alpha 2

HCNC Approved Symbol: PHKA2 (HGNC:8926)
Genomic Coordinates: 23:18,892,298 - 18,984,114 (Xp22.13)
Synonyms: PHK, PYK
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

13Patients

In total, 13 patients were diagnosed with a variant in the PHKA2 gene.

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

013
Patient count

Hepatomegaly: 9 (69.2%)
Patient Count: 9 (69.2%)
% of total patients presenting each phenotype is shown in parentheses.
9 (69.2%)
Abnormal hepatic glycogen storage: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Elevated liver enzymes: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Liver disease: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Hepatosplenomegaly: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)