TCF4 - Gene browser

TCF4

transcription factor 4

HCNC Approved Symbol: TCF4 (HGNC:11634)
Genomic Coordinates: 18:55,222,185 - 55,635,957 (18q21.2)
Synonyms: SEF2-1B, ITF2, bHLHb19, E2-2
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

25Patients

In total, 25 patients were diagnosed with a variant in the TCF4 gene.

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

025
Patient count

Global developmental delay: 11 (44.0%)
Patient Count: 11 (44.0%)
% of total patients presenting each phenotype is shown in parentheses.
11 (44.0%)
Microcephaly: 5 (20.0%)
Patient Count: 5 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
5 (20.0%)
Hypotonia: 5 (20.0%)
Patient Count: 5 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
5 (20.0%)
Abnormal facial shape: 4 (16.0%)
Patient Count: 4 (16.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (16.0%)
Overfolded helix: 4 (16.0%)
Patient Count: 4 (16.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (16.0%)