EXT1 - Gene browser

EXT1

exostosin glycosyltransferase 1

HCNC Approved Symbol: EXT1 (HGNC:3512)
Genomic Coordinates: 8:117,794,490 - 118,111,826 (8q24.11)
Synonyms: ttv, LGCR, LGS
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

12Patients

In total, 12 patients were diagnosed with a variant in the EXT1 gene.

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

012
Patient count

Multiple exostoses: 8 (66.7%)
Patient Count: 8 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
8 (66.7%)
Multiple exostoses of long tubular bones: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Exostoses: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Overlapping toe: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Osteochondroma: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)