PRICKLE2 - Gene browser

PRICKLE2

prickle planar cell polarity protein 2

HCNC Approved Symbol: PRICKLE2 (HGNC:20340)
Genomic Coordinates: 3:64,092,236 - 64,268,173 (3p14.1)
Synonyms: DKFZp686D143
Disease Associations: Currently, this gene is not associated with any human disease in OMIM.
However, the following publication(s) suggest a possible gene disease association.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the PRICKLE2 gene.

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

01
Patient count

Bilateral tonic-clonic seizure: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Delayed speech and language development: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Developmental delay: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Difficulty walking: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Microcephaly: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)