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KRT10

Synonyms
BCIE, BIE, CK10, EHK, K10, KPP
External resources
Summary
This gene encodes a member of the type I (acidic) cytokeratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. Mutations in this gene are associated with epidermolytic hyperkeratosis. This gene is located within a cluster of keratin family members on chromosome 17q21.

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
254
Likely pathogenic
212
VUS
12,125
Likely benign
3,112
Benign
3,789

Patient phenotypes

Proportions of phenotypes among 244 patients carrying pathogenic or likely pathogenic variants on KRT10 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.9%
Abnormality of the cardiovascular system
29.5%
Abnormality of the musculoskeletal system
26.2%
Abnormality of head or neck
16.4%
Abnormality of limbs
11.9%
Abnormality of the ear
11.9%
Abnormality of the eye
10.2%
Abnormality of the integument
8.6%
Growth abnormality
8.2%
Abnormality of the genitourinary system
7.8%
Abnormality of the digestive system
7.4%
Abnormality of the immune system
6.6%
Abnormality of blood and blood-forming tissues
5.7%
Abnormality of the endocrine system
4.5%
Abnormality of the respiratory system
3.7%
Abnormality of prenatal development or birth
3.3%
Constitutional symptom
3.3%
Neoplasm
2%
Abnormality of the breast
0.8%
Abnormal cellular phenotype
0.4%
Abnormality of the voice
0.4%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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