HGSNAT - Gene browser

HGSNAT

heparan-alpha-glucosaminide N-acetyltransferase

HCNC Approved Symbol: HGSNAT (HGNC:26527)
Genomic Coordinates: 8:43,140,464 - 43,202,855 (8p11.21-p11.1)
Synonyms: FLJ32731, HGNAT, TMEM76
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

9Patients

In total, 9 patients were diagnosed with a variant in the HGSNAT gene.

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

09
Patient count

Retinitis pigmentosa: 4 (44.4%)
Patient Count: 4 (44.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (44.4%)
Visual impairment: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)
Abnormal retinal morphology: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)
Ird: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)
Retinal disease: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)