RPS6KA3 - Gene browser

RPS6KA3

ribosomal protein S6 kinase A3

HCNC Approved Symbol: RPS6KA3 (HGNC:10432)
Genomic Coordinates: 23:20,149,911 - 20,267,097 (Xp22.12)
Synonyms: RSK2, HU-3, MRX19, CLS
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

13Patients

In total, 13 patients were diagnosed with a variant in the RPS6KA3 gene.

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

013
Patient count

Hypertelorism: 6 (46.2%)
Patient Count: 6 (46.2%)
% of total patients presenting each phenotype is shown in parentheses.
6 (46.2%)
Facial dysmorphism: 4 (30.8%)
Patient Count: 4 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (30.8%)
Microcephaly: 4 (30.8%)
Patient Count: 4 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (30.8%)
Thick lower lip vermilion: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Short stature: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)