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GUF1

Synonyms
DEE40, EF-4, EF4, EIEE40
External resources
Summary
This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synthesis. The protein contains a highly conserved C-terminal domain not found in other GTPases that facilitates tRNA binding. The encoded protein is thought to prevent misincorporation of amino acids in stressful, suboptimal conditions. An allelic variant in this gene has been associated with early infantile epileptic encephalopathy-40. Alternative splicing results in multiple transcript variants.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
60
Likely pathogenic
0
VUS
2,069
Likely benign
286
Benign
89

Patient phenotypes

Proportions of phenotypes among 60 patients carring pathogenic or likely pathogenic variants on GUF1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the musculoskeletal system
46.7%
Abnormality of head or neck
36.7%
Abnormality of the eye
30%
Abnormality of the cardiovascular system
18.3%
Abnormality of the ear
18.3%
Abnormality of the genitourinary system
18.3%
Abnormality of limbs
16.7%
Growth abnormality
13.3%
Abnormality of the integument
10%
Abnormality of the respiratory system
8.3%
Abnormality of the digestive system
6.7%
Abnormality of prenatal development or birth
5%
Abnormality of the endocrine system
5%
Abnormality of the voice
1.7%
Neoplasm
1.7%
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 immune system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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