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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

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
30
Likely pathogenic
0
VUS
8,032
Likely benign
2,432
Benign
2,548

Patient phenotypes

Proportions of phenotypes among 30 patients carring pathogenic or likely pathogenic variants on TTC37 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.7%
Abnormality of the musculoskeletal system
33.3%
Abnormality of the eye
30%
Abnormality of head or neck
26.7%
Abnormality of the integument
26.7%
Abnormality of the genitourinary system
16.7%
Growth abnormality
13.3%
Abnormality of limbs
10%
Abnormality of the cardiovascular system
10%
Abnormality of the ear
10%
Abnormality of the immune system
10%
Abnormality of blood and blood-forming tissues
6.7%
Neoplasm
6.7%
Abnormality of prenatal development or birth
3.3%
Abnormality of the digestive system
3.3%
Abnormality of the endocrine system
3.3%
Abnormality of the respiratory system
3.3%
Abnormality of the thoracic cavity
3.3%
Constitutional symptom
3.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the voice
0%

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