TAF1 - Gene browser

TAF1

TATA-box binding protein associated factor 1

HCNC Approved Symbol: TAF1 (HGNC:11535)
Genomic Coordinates: 23:71,366,357 - 71,530,525 (Xq13.1)
Synonyms: NSCL2, TAFII250, KAT4, DYT3/TAF1, TAF2A, BA2R, CCG1, CCGS, DYT3
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

15Patients

In total, 15 patients were diagnosed with a variant in the TAF1 gene.

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

015
Patient count

Autistic feature: 3 (20.0%)
Patient Count: 3 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (20.0%)
Intellectual disability: 2 (13.3%)
Patient Count: 2 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (13.3%)
Short stature: 2 (13.3%)
Patient Count: 2 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (13.3%)
Failure to thrive: 2 (13.3%)
Patient Count: 2 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (13.3%)
Global developmental delay: 2 (13.3%)
Patient Count: 2 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (13.3%)