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NDC80

Synonyms
HEC, HEC1, HsHec1, KNTC2, TID3, hsNDC80
External resources
Summary
This gene encodes a component of the NDC80 kinetochore complex. The encoded protein consists of an N-terminal microtubule binding domain and a C-terminal coiled-coiled domain that interacts with other components of the complex. This protein functions to organize and stabilize microtubule-kinetochore interactions and is required for proper chromosome segregation.

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
14
Likely pathogenic
0
VUS
2,219
Likely benign
464
Benign
0

Patient Phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on NDC80 gene are displayed below. The following symptoms were found in patients with a variant in NDC80. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
42.9%
Abnormality of the nervous system
28.6%
Abnormality of the musculoskeletal system
21.4%
Abnormality of head or neck
14.3%
Abnormality of the cardiovascular system
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of the integument
14.3%
Abnormality of metabolism homeostasis
7.1%
Abnormality of the ear
7.1%
Abnormality of the endocrine system
7.1%
Growth abnormality
7.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of limbs
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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