Home > Gene Browser > TCHH

TCHH

Synonyms
THH, THL, TRHY, UHS3
External resources
Summary
The protein encoded by this gene forms crosslinked complexes with itself and keratin intermediate filaments to provide mechanical strength to the hair follicle inner root sheath. The encoded protein also is important for structural integrity of the filiform papillae of the tongue. Defects in this gene are a cause of uncombable hair 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
25
Likely pathogenic
8
VUS
6,606
Likely benign
5,184
Benign
0

Patient phenotypes

Proportions of phenotypes among 31 patients carrying pathogenic or likely pathogenic variants on TCHH gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
41.9%
Abnormality of the nervous system
41.9%
Abnormality of the eye
25.8%
Abnormality of head or neck
22.6%
Abnormality of limbs
22.6%
Abnormality of the cardiovascular system
22.6%
Abnormality of the ear
19.4%
Growth abnormality
16.1%
Abnormality of the digestive system
12.9%
Abnormality of the integument
12.9%
Abnormality of the immune system
9.7%
Abnormality of blood and blood-forming tissues
6.5%
Abnormality of prenatal development or birth
6.5%
Abnormality of the genitourinary system
6.5%
Abnormality of the breast
3.2%
Abnormality of the endocrine system
3.2%
Neoplasm
3.2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes