TFE3 - Gene browser

TFE3

transcription factor binding to IGHM enhancer 3

HCNC Approved Symbol: TFE3 (HGNC:11752)
Genomic Coordinates: 23:49,028,726 - 49,043,357 (Xp11.23)
Synonyms: TFEA, bHLHe33
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

11Patients

In total, 11 patients were diagnosed with a variant in the TFE3 gene.

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

011
Patient count

Facial dysmorphism: 4 (36.4%)
Patient Count: 4 (36.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (36.4%)
Abnormal facial shape: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Hypotonia: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Intellectual disability: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Global developmental delay: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)