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TCHHL1

Synonyms
S100A17, THHL1
External resources
Summary
This gene belongs to the S100 fused-type protein (SFTP) gene family, and is located in a cluster of SFTP genes on chromosome 1q21. Several members of this family have been implicated in the development of complex skin disorders. This gene is evolutionarily conserved; its expression appears to be hair-specific and spatially restricted within the distal inner root sheath of the hair follicle. It thus may have an important role in hair morphogenesis.

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
24
Likely pathogenic
1,012
VUS
1,432
Likely benign
679
Benign
0

Patient phenotypes

Proportions of phenotypes among 1026 patients carring pathogenic or likely pathogenic variants on TCHHL1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.3%
Abnormality of the musculoskeletal system
29.2%
Abnormality of head or neck
21.9%
Abnormality of the cardiovascular system
20.5%
Abnormality of the eye
20.3%
Abnormality of the ear
16.2%
Growth abnormality
13.7%
Abnormality of the genitourinary system
9.5%
Abnormality of limbs
9.1%
Abnormality of the integument
8.2%
Abnormality of the digestive system
7.1%
Abnormality of the immune system
5.8%
Abnormality of blood and blood-forming tissues
5.8%
Abnormality of the endocrine system
4.2%
Abnormality of prenatal development or birth
3.5%
Abnormality of the respiratory system
3.5%
Neoplasm
2.8%
Abnormality of the breast
1.2%
Constitutional symptom
0.5%
Abnormal cellular phenotype
0.4%
Abnormality of the voice
0.2%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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