PPM1D - Gene browser

PPM1D

protein phosphatase, Mg2+/Mn2+ dependent 1D

HCNC Approved Symbol: PPM1D (HGNC:9277)
Genomic Coordinates: 17:60,600,193 - 60,666,280 (17q23.3)
Synonyms: Wip1, PP2C-DELTA
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

4Patients

In total, 4 patients were diagnosed with a variant in the PPM1D gene.

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

04
Patient count

Microcephaly: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Global developmental delay: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Abnormality of the abdomen: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Absent/small extremities: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Delayed growth: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)