PCNT - Gene browser

PCNT

pericentrin

HCNC Approved Symbol: PCNT (HGNC:16068)
Genomic Coordinates: 21:46,324,156 - 46,445,769 (21q22.3)
Synonyms: KEN, KIAA0402, PCN, PCNTB, SCKL4, PCNT2
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

6Patients

In total, 6 patients were diagnosed with a variant in the PCNT gene.

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

06
Patient count

Microcephaly: 5 (83.3%)
Patient Count: 5 (83.3%)
% of total patients presenting each phenotype is shown in parentheses.
5 (83.3%)
Severe short stature: 4 (66.7%)
Patient Count: 4 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
4 (66.7%)
Abnormality of the frontal hairline: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Atrial septal defect: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Low birth weight: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)