PIK3R1 - Gene browser

PIK3R1

phosphoinositide-3-kinase regulatory subunit 1

HCNC Approved Symbol: PIK3R1 (HGNC:8979)
Genomic Coordinates: 5:68,215,756 - 68,301,821 (5q13.1)
Synonyms: GRB1, p85-ALPHA, p85, p85alpha
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

5Patients

In total, 5 patients were diagnosed with a variant in the PIK3R1 gene.

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

05
Patient count

Low birth weight: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Postnatal growth failure: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Progressive skeletal dysplasia: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Small for gestational age infant: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Small stature: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)