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TTC37

Synonyms
KIAA0372, Ski3, THES
External resources
Summary
This gene encodes a protein with twenty tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Mutations in this gene are associated with trichohepatoenteric syndrome.

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
39
Likely pathogenic
0
VUS
13,251
Likely benign
5,807
Benign
4,936

Patient phenotypes

Proportions of phenotypes among 39 patients carrying pathogenic or likely pathogenic variants on TTC37 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.5%
Abnormality of the musculoskeletal system
28.2%
Abnormality of the integument
25.6%
Abnormality of head or neck
23.1%
Abnormality of the eye
23.1%
Abnormality of the cardiovascular system
17.9%
Abnormality of the genitourinary system
12.8%
Growth abnormality
10.3%
Abnormality of limbs
7.7%
Abnormality of the ear
7.7%
Abnormality of the immune system
7.7%
Abnormality of prenatal development or birth
5.1%
Abnormality of the digestive system
5.1%
Neoplasm
5.1%
Abnormality of blood and blood-forming tissues
2.6%
Abnormality of the endocrine system
2.6%
Abnormality of the respiratory system
2.6%
Abnormality of the thoracic cavity
2.6%
Constitutional symptom
2.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the voice
0%

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