PPP1CB - Gene browser

PPP1CB

protein phosphatase 1 catalytic subunit beta

HCNC Approved Symbol: PPP1CB (HGNC:9282)
Genomic Coordinates: 2:28,751,604 - 28,802,940 (2p23.2)
Synonyms: PP1B, PP-1B, PP1beta, PP1c, MP, PPP1beta
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

7Patients

In total, 7 patients were diagnosed with a variant in the PPP1CB gene.

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

07
Patient count

Short stature: 4 (57.1%)
Patient Count: 4 (57.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (57.1%)
Hypertelorism: 3 (42.9%)
Patient Count: 3 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
3 (42.9%)
Developmental delay: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Macrocephaly: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Downslanted palpebral fissures: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)