PCLO - Gene browser | 3billion

PCLO

PCLO

piccolo presynaptic cytomatrix protein

HCNC Approved Symbol: PCLO (HGNC:13406)
Genomic Coordinates: 7:82,754,012 - 83,162,884 (7q21.11)
Synonyms: KIAA0559, DKFZp779G1236, ACZ
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the PCLO gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Aplasia/hypoplasia of the cerebellar vermis: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Brain atrophy: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Global developmental delay: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

PCLO - Gene browser | 3billion