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EIF2B1

Synonyms
EIF2B, EIF2BA, EIF2Balpha
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
9
Likely pathogenic
1
VUS
8,229
Likely benign
951
Benign
103

Patient phenotypes

Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on EIF2B1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
30%
Abnormality of head or neck
20%
Abnormality of the cardiovascular system
20%
Abnormality of the ear
20%
Abnormality of the genitourinary system
20%
Abnormality of the musculoskeletal system
20%
Abnormality of limbs
10%
Abnormality of the digestive system
10%
Abnormality of the immune system
10%
Abnormality of the integument
10%
Neoplasm
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 endocrine system
0%
Abnormality of the eye
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%

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