CC2D2A - Gene browser

CC2D2A

coiled-coil and C2 domain containing 2A

HCNC Approved Symbol: CC2D2A (HGNC:29253)
Genomic Coordinates: 4:15,469,865 - 15,601,557 (4p15.32)
Synonyms: KIAA1345, MKS6, JBTS9
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

14Patients

In total, 14 patients were diagnosed with a variant in the CC2D2A gene.

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

014
Patient count

Agenesis of cerebellar vermis: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Nystagmus: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Ataxia: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Cerebellar hypoplasia: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Delayed fine motor development: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)