AGL - Gene browser

AGL

amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase

HCNC Approved Symbol: AGL (HGNC:321)
Genomic Coordinates: 1:99,849,258 - 99,924,023 (1p21.2)
Synonyms: GDE
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

22Patients

In total, 22 patients were diagnosed with a variant in the AGL gene.

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

022
Patient count

Hepatomegaly: 14 (63.6%)
Patient Count: 14 (63.6%)
% of total patients presenting each phenotype is shown in parentheses.
14 (63.6%)
Elevated transaminases: 6 (27.3%)
Patient Count: 6 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
6 (27.3%)
Short stature: 6 (27.3%)
Patient Count: 6 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
6 (27.3%)
Hypoglycemia: 5 (22.7%)
Patient Count: 5 (22.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (22.7%)
Hypertriglyceridemia: 3 (13.6%)
Patient Count: 3 (13.6%)
% of total patients presenting each phenotype is shown in parentheses.
3 (13.6%)