GALNS - Gene browser

GALNS

galactosamine (N-acetyl)-6-sulfatase

HCNC Approved Symbol: GALNS (HGNC:4122)
Genomic Coordinates: 16:88,813,734 - 88,856,947 (16q24.3)
Synonyms: GAS, GALNAC6S, GalN6S
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

30Patients

In total, 30 patients were diagnosed with a variant in the GALNS gene.

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

030
Patient count

Short stature: 14 (46.7%)
Patient Count: 14 (46.7%)
% of total patients presenting each phenotype is shown in parentheses.
14 (46.7%)
Skeletal dysplasia: 12 (40.0%)
Patient Count: 12 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
12 (40.0%)
Scoliosis: 6 (20.0%)
Patient Count: 6 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (20.0%)
Epiphyseal dysplasia: 6 (20.0%)
Patient Count: 6 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (20.0%)
Difficulty walking: 5 (16.7%)
Patient Count: 5 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (16.7%)