EXT2 - Gene browser

EXT2

exostosin glycosyltransferase 2

HCNC Approved Symbol: EXT2 (HGNC:3513)
Genomic Coordinates: 11:44,095,678 - 44,251,962 (11p11.2)
Synonyms: SOTV
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

7Patients

In total, 7 patients were diagnosed with a variant in the EXT2 gene.

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

07
Patient count

Osteochondroma: 4 (57.1%)
Patient Count: 4 (57.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (57.1%)
Multiple exostoses of long tubular bones: 3 (42.9%)
Patient Count: 3 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
3 (42.9%)
Exostoses: 3 (42.9%)
Patient Count: 3 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
3 (42.9%)
Multiple exostoses: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Growth hormone deficiency: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)