SUFU - Gene browser

SUFU

SUFU negative regulator of hedgehog signaling

HCNC Approved Symbol: SUFU (HGNC:16466)
Genomic Coordinates: 10:102,502,819 - 102,633,535 (10q24.32)
Synonyms: SUFUH, SUFUXL, PRO1280
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the SUFU gene.

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

01
Patient count

Dysmorphism: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Flat face: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Flat nasal root: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Hypertelorism: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Oculomotor apraxia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)