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EIF2B5

Synonyms
CACH, CLE, EIF-2B, EIF2Bepsilon, LVWM
External resources
Summary
This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
1
Likely pathogenic
9
VUS
11,910
Likely benign
258
Benign
39

Patient phenotypes

Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on EIF2B5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
60%
Abnormality of the musculoskeletal system
40%
Abnormality of head or neck
20%
Abnormality of the cardiovascular system
20%
Growth abnormality
20%
Abnormality of limbs
10%
Abnormality of the digestive system
10%
Abnormality of the endocrine system
10%
Abnormality of the eye
10%
Abnormality of the genitourinary system
10%
Abnormality of the integument
10%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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