GBA1 - Gene browser

GBA1

glucosylceramidase beta 1

HCNC Approved Symbol: GBA1 (HGNC:4177)
Genomic Coordinates: 1:155,234,452 - 155,244,627 (1q22)
Synonyms: GLUC, GBA
Disease Associations: This gene is associated with the following 7 diseases in OMIM.

2Patients

In total, 2 patients were diagnosed with a variant in the GBA1 gene.

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

02
Patient count

Low platelet count: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Splenomegaly: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Headache: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Increased intracranial pressure: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Plexiform neurofibroma: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)