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EIF2B3

Synonyms
EIF-2B, EIF2Bgamma
External resources
Summary
The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

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
7
Likely pathogenic
2
VUS
6,884
Likely benign
927
Benign
91

Patient phenotypes

Proportions of phenotypes among 9 patients carrying pathogenic or likely pathogenic variants on EIF2B3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
88.9%
Abnormality of the musculoskeletal system
77.8%
Abnormality of head or neck
66.7%
Abnormality of the integument
33.3%
Abnormality of limbs
22.2%
Abnormality of the cardiovascular system
22.2%
Abnormality of the ear
22.2%
Growth abnormality
22.2%
Abnormality of prenatal development or birth
11.1%
Abnormality of the eye
11.1%
Abnormality of the genitourinary system
11.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
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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