CNTNAP2 - Gene browser

CNTNAP2

contactin associated protein 2

HCNC Approved Symbol: CNTNAP2 (HGNC:13830)
Genomic Coordinates: 7:146,116,801 - 148,420,998 (7q35-q36.1)
Synonyms: Caspr2, KIAA0868, NRXN4
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

10Patients

In total, 10 patients were diagnosed with a variant in the CNTNAP2 gene.

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

010
Patient count

Epilepsy: 4 (40.0%)
Patient Count: 4 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (40.0%)
Intractable seizures: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Learning difficulties: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Thick hair: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Mental retardation: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)