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ETHE1

Synonyms
HSCO, YF13H12
External resources
Summary
This gene encodes a member of the metallo beta-lactamase family of iron-containing proteins involved in the mitochondrial sulfide oxidation pathway. The encoded protein catalyzes the oxidation of a persulfide substrate to sulfite. Certain mutations in this gene cause ethylmalonic encephalopathy, an infantile metabolic disorder affecting the brain, gastrointestinal tract and peripheral vessels. Alternative splicing results in multiple transcript variants encoding different isoforms.

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
9
Likely pathogenic
2
VUS
832
Likely benign
3,397
Benign
408

Patient phenotypes

Proportions of phenotypes among 11 patients carring pathogenic or likely pathogenic variants on ETHE1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
63.6%
Abnormality of the nervous system
63.6%
Abnormality of head or neck
54.5%
Abnormality of the eye
54.5%
Abnormality of limbs
27.3%
Abnormality of prenatal development or birth
18.2%
Abnormality of the integument
18.2%
Growth abnormality
18.2%
Abnormality of the cardiovascular system
9.1%
Abnormality of the digestive system
9.1%
Abnormality of the ear
9.1%
Abnormality of the endocrine system
9.1%
Constitutional symptom
9.1%
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 genitourinary 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%
Neoplasm
0%

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