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CTH

Synonyms
-
External resources
Summary
This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in three 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
21
Likely pathogenic
0
VUS
1,660
Likely benign
1,165
Benign
0

Patient phenotypes

Proportions of phenotypes among 21 patients carring pathogenic or likely pathogenic variants on CTH gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
28.6%
Abnormality of the ear
19%
Abnormality of the eye
19%
Growth abnormality
19%
Abnormality of the cardiovascular system
9.5%
Abnormality of the digestive system
9.5%
Abnormality of the genitourinary system
9.5%
Abnormality of the integument
9.5%
Abnormality of the musculoskeletal system
9.5%
Abnormal cellular phenotype
4.8%
Abnormality of blood and blood-forming tissues
4.8%
Abnormality of head or neck
4.8%
Abnormality of prenatal development or birth
4.8%
Abnormality of the immune system
4.8%
Abnormality of the respiratory system
4.8%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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