GLUD1 - Gene browser | 3billion

GLUD1

GLUD1

glutamate dehydrogenase 1

HCNC Approved Symbol: GLUD1 (HGNC:4335)
Genomic Coordinates: 10:87,050,202 - 87,094,843 (10q23.2)
Synonyms: GDH, GDH1, hGDH1, GLUD
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the GLUD1 gene.

Frequently observed phenotypes(Top 5 only)

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

02
Patient count

Hypoglycemia: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Hyperinsulinemic hypoglycemia: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Seizures, afebrile: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Abnormal glucose-6-phosphate dehydrogenase level: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)

Last updated: 2024-06-30

GLUD1 - Gene browser | 3billion