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KLHL6

Synonyms
-
External resources
Summary
This gene encodes a member of the kelch-like (KLHL) family of proteins, which is involved in B-lymphocyte antigen receptor signaling and germinal-center B-cell maturation. The encoded protein contains an N-terminal broad-complex, tramtrack and bric a brac (BTB) domain that facilitates protein binding and dimerization, a BTB and C-terminal kelch (BACK) domain, and six C-terminal kelch repeat domains. Naturally occurring mutations in this gene are associated with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants.

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
8
Likely pathogenic
0
VUS
3,763
Likely benign
89
Benign
0

Patient phenotypes

Proportions of phenotypes among 8 patients carring pathogenic or likely pathogenic variants on KLHL6 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.5%
Abnormality of the cardiovascular system
25%
Abnormality of the ear
25%
Abnormality of the endocrine system
25%
Abnormality of the eye
25%
Abnormality of the digestive system
12.5%
Abnormality of the genitourinary system
12.5%
Growth abnormality
12.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of head or neck
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the musculoskeletal 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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