Home > Gene Browser > KIZ

KIZ

Synonyms
C20orf19, HT013, Kizuna, NCRNA00153, PLK1S1, RP69
External resources
Summary
The protein encoded by this gene localizes to centrosomes, strengthening and stabilizing the pericentriolar region prior to spindle formation. The encoded protein usually remains with the mother centrosome after centrosomal duplication. Sevral transcript variants encoding different isoforms have been found for this gene.

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
62
Likely pathogenic
0
VUS
3,026
Likely benign
1,959
Benign
3

Patient phenotypes

Proportions of phenotypes among 61 patients carring pathogenic or likely pathogenic variants on KIZ gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.9%
Abnormality of the eye
31.1%
Abnormality of the musculoskeletal system
27.9%
Abnormality of head or neck
19.7%
Growth abnormality
19.7%
Abnormality of the ear
9.8%
Abnormality of the immune system
9.8%
Abnormality of blood and blood-forming tissues
8.2%
Abnormality of the cardiovascular system
8.2%
Abnormality of prenatal development or birth
4.9%
Abnormality of the digestive system
4.9%
Abnormality of the genitourinary system
4.9%
Abnormality of the integument
4.9%
Abnormality of limbs
3.3%
Abnormality of the breast
1.6%
Abnormality of the endocrine system
1.6%
Abnormality of the respiratory system
1.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

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