POGZ - Gene browser

POGZ

pogo transposable element derived with ZNF domain

HCNC Approved Symbol: POGZ (HGNC:18801)
Genomic Coordinates: 1:151,402,724 - 151,459,494 (1q21.3)
Synonyms: KIAA0461, ZNF635, ZNF280E
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

12Patients

In total, 12 patients were diagnosed with a variant in the POGZ gene.

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

012
Patient count

Intellectual disability: 5 (41.7%)
Patient Count: 5 (41.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (41.7%)
Global developmental delay: 4 (33.3%)
Patient Count: 4 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (33.3%)
Microcephaly: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Short stature: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Abnormal facial shape: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)