CACNA2D2 - Gene browser

CACNA2D2

calcium voltage-gated channel auxiliary subunit alpha2delta 2

HCNC Approved Symbol: CACNA2D2 (HGNC:1400)
Genomic Coordinates: 3:50,362,613 - 50,504,244 (3p21.31)
Synonyms: KIAA0558, alpha2delta-2
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

3Patients

In total, 3 patients were diagnosed with a variant in the CACNA2D2 gene.

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

03
Patient count

Global developmental delay: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Intellectual disability: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Squint eyes: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Absent speech: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Affected: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)