PIK3R2 - Gene browser

PIK3R2

phosphoinositide-3-kinase regulatory subunit 2

HCNC Approved Symbol: PIK3R2 (HGNC:8980)
Genomic Coordinates: 19:18,153,163 - 18,170,532 (19p13.11)
Synonyms: P85B, p85, p85beta, p85-BETA
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

8Patients

In total, 8 patients were diagnosed with a variant in the PIK3R2 gene.

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

08
Patient count

Macrocephaly: 5 (62.5%)
Patient Count: 5 (62.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (62.5%)
Global development delay: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Polymicrogyria: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Intellectual disability: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Duodenal adenocarcinoma: 1 (12.5%)
Patient Count: 1 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
1 (12.5%)