TCOF1 - Gene browser

TCOF1

treacle ribosome biogenesis factor 1

HCNC Approved Symbol: TCOF1 (HGNC:11654)
Genomic Coordinates: 5:150,357,697 - 150,400,293 (5q32-q33.1)
Synonyms: treacle, TCS
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

29Patients

In total, 29 patients were diagnosed with a variant in the TCOF1 gene.

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

029
Patient count

Microtia: 16 (55.2%)
Patient Count: 16 (55.2%)
% of total patients presenting each phenotype is shown in parentheses.
16 (55.2%)
Cleft palate: 14 (48.3%)
Patient Count: 14 (48.3%)
% of total patients presenting each phenotype is shown in parentheses.
14 (48.3%)
Micrognathia: 14 (48.3%)
Patient Count: 14 (48.3%)
% of total patients presenting each phenotype is shown in parentheses.
14 (48.3%)
Malar hypoplasia: 13 (44.8%)
Patient Count: 13 (44.8%)
% of total patients presenting each phenotype is shown in parentheses.
13 (44.8%)
Downslanted palpebral fissures: 5 (17.2%)
Patient Count: 5 (17.2%)
% of total patients presenting each phenotype is shown in parentheses.
5 (17.2%)