EIF2B3 - Gene browser | 3billion

EIF2B3

EIF2B3

eukaryotic translation initiation factor 2B subunit gamma

HCNC Approved Symbol: EIF2B3 (HGNC:3259)
Genomic Coordinates: 1:44,850,522 - 44,986,595 (1p34.1)
Synonyms: EIF2Bgamma, EIF-2B
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 EIF2B3 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

Leukodystrophy: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Leukoencephalopathy: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Muscle weakness: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)

Last updated: 2024-06-30

EIF2B3 - Gene browser | 3billion