EIF2B5 - Gene browser

EIF2B5

eukaryotic translation initiation factor 2B subunit epsilon

HCNC Approved Symbol: EIF2B5 (HGNC:3261)
Genomic Coordinates: 3:184,135,358 - 184,145,311 (3q27.1)
Synonyms: EIF2Bepsilon, EIF-2B
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

13Patients

In total, 13 patients were diagnosed with a variant in the EIF2B5 gene.

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

013
Patient count

Neurodevelopmental regression: 5 (38.5%)
Patient Count: 5 (38.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (38.5%)
Gait ataxia: 4 (30.8%)
Patient Count: 4 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (30.8%)
Increased deep tendon reflexes: 4 (30.8%)
Patient Count: 4 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (30.8%)
Leukodystrophy: 4 (30.8%)
Patient Count: 4 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (30.8%)
Cerebral white matter abnormalities: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)