TAOK1 - Gene browser

TAOK1

TAO kinase 1

HCNC Approved Symbol: TAOK1 (HGNC:29259)
Genomic Coordinates: 17:29,390,363 - 29,551,903 (17q11.2)
Synonyms: KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1, hTAOK1, hKFC-B
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

10Patients

In total, 10 patients were diagnosed with a variant in the TAOK1 gene.

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

010
Patient count

Hypotonia: 3 (30.0%)
Patient Count: 3 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (30.0%)
Intellectual disability: 3 (30.0%)
Patient Count: 3 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (30.0%)
Global developmental delay: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Developmental delay: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Macrocephaly: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)