AKT3 - Gene browser

AKT3

AKT serine/threonine kinase 3

HCNC Approved Symbol: AKT3 (HGNC:393)
Genomic Coordinates: 1:243,488,233 - 243,851,079 (1q43-q44)
Synonyms: PKBG, RAC-gamma, PRKBG
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

5Patients

In total, 5 patients were diagnosed with a variant in the AKT3 gene.

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

05
Patient count

Macrocephaly: 4 (80.0%)
Patient Count: 4 (80.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (80.0%)
Hypotonia: 3 (60.0%)
Patient Count: 3 (60.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (60.0%)
Polymicrogyria: 3 (60.0%)
Patient Count: 3 (60.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (60.0%)
Pachygyria: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Failure to thrive: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)