CPLANE1 - Gene browser

CPLANE1

ciliogenesis and planar polarity effector complex subunit 1

HCNC Approved Symbol: CPLANE1 (HGNC:25801)
Genomic Coordinates: 5:37,075,669 - 37,249,376 (5p13.2)
Synonyms: FLJ13231, JBTS17, Hug, C5orf42
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

22Patients

In total, 22 patients were diagnosed with a variant in the CPLANE1 gene.

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

022
Patient count

Motor delay: 7 (31.8%)
Patient Count: 7 (31.8%)
% of total patients presenting each phenotype is shown in parentheses.
7 (31.8%)
Ataxia: 6 (27.3%)
Patient Count: 6 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
6 (27.3%)
Nystagmus: 6 (27.3%)
Patient Count: 6 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
6 (27.3%)
Hypotonia: 5 (22.7%)
Patient Count: 5 (22.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (22.7%)
Oculomotor apraxia: 4 (18.2%)
Patient Count: 4 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
4 (18.2%)