CASK - Gene browser

CASK

calcium/calmodulin dependent serine protein kinase

HCNC Approved Symbol: CASK (HGNC:1497)
Genomic Coordinates: 23:41,514,934 - 41,923,554 (Xp11.4)
Synonyms: LIN2, CAGH39, FGS4, TNRC8
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

21Patients

In total, 21 patients were diagnosed with a variant in the CASK gene.

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

021
Patient count

Microcephaly: 12 (57.1%)
Patient Count: 12 (57.1%)
% of total patients presenting each phenotype is shown in parentheses.
12 (57.1%)
Global developmental delay: 8 (38.1%)
Patient Count: 8 (38.1%)
% of total patients presenting each phenotype is shown in parentheses.
8 (38.1%)
Hypotonia: 5 (23.8%)
Patient Count: 5 (23.8%)
% of total patients presenting each phenotype is shown in parentheses.
5 (23.8%)
Failure to thrive: 3 (14.3%)
Patient Count: 3 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (14.3%)
Gross motor delay: 3 (14.3%)
Patient Count: 3 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (14.3%)