PTEN - Gene browser

PTEN

phosphatase and tensin homolog

HCNC Approved Symbol: PTEN (HGNC:9588)
Genomic Coordinates: 10:87,863,625 - 87,971,930 (10q23.31)
Synonyms: MMAC1, TEP1, PTEN1, BZS, MHAM
Disease Associations: This gene is associated with the following 6 diseases in OMIM.

Diagnosed Cases

49Patients

In total, 49 patients were diagnosed with a variant in the PTEN gene.

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

049
Patient count

Macrocephaly: 23 (46.9%)
Patient Count: 23 (46.9%)
% of total patients presenting each phenotype is shown in parentheses.
23 (46.9%)
Global developmental delay: 11 (22.4%)
Patient Count: 11 (22.4%)
% of total patients presenting each phenotype is shown in parentheses.
11 (22.4%)
Developmental delay: 8 (16.3%)
Patient Count: 8 (16.3%)
% of total patients presenting each phenotype is shown in parentheses.
8 (16.3%)
Hypotonia: 7 (14.3%)
Patient Count: 7 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
7 (14.3%)
Intellectual disability: 7 (14.3%)
Patient Count: 7 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
7 (14.3%)