Home > Gene Browser > KLHL40
KLHL40
- Synonyms
- KBTBD5, NEM8, SRYP, SYRP
- External resources
- NCBI131377
- OMIM615340
- EnsemblENSG00000157119
- HGNCHGNC:30372
- 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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