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KLHL40

Synonyms
KBTBD5, NEM8, SRYP, SYRP
External resources
Summary
This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish.

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
13
Likely pathogenic
34
VUS
2,399
Likely benign
1,249
Benign
1,941

Patient phenotypes

Proportions of phenotypes among 44 patients carrying pathogenic or likely pathogenic variants on KLHL40 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.4%
Abnormality of the eye
25%
Abnormality of head or neck
22.7%
Abnormality of the cardiovascular system
20.5%
Abnormality of the ear
15.9%
Abnormality of the musculoskeletal system
13.6%
Abnormality of the integument
11.4%
Abnormality of the genitourinary system
9.1%
Abnormality of limbs
4.5%
Abnormality of the digestive system
4.5%
Growth abnormality
4.5%
Abnormality of blood and blood-forming tissues
2.3%
Abnormality of the immune system
2.3%
Constitutional symptom
2.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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