Home > Gene Browser > CLPP

CLPP

Synonyms
DFNB81, PRLTS3
External resources
Summary
The protein encoded by this gene belongs to the peptidase family S14 and hydrolyzes proteins into small peptides in the presence of ATP and magnesium. The protein is transported into mitochondrial matrix and is associated with the inner mitochondrial membrane.

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
100
Likely pathogenic
0
VUS
3,333
Likely benign
4,459
Benign
191

Patient phenotypes

Proportions of phenotypes among 25 patients carrying pathogenic or likely pathogenic variants on CLPP gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
40%
Growth abnormality
32%
Abnormality of the nervous system
28%
Abnormality of the cardiovascular system
24%
Abnormality of the musculoskeletal system
24%
Abnormality of limbs
16%
Abnormality of the ear
12%
Abnormality of the genitourinary system
12%
Abnormality of blood and blood-forming tissues
8%
Abnormality of prenatal development or birth
8%
Abnormality of the eye
8%
Abnormality of the integument
8%
Abnormality of the digestive system
4%
Abnormality of the endocrine system
4%
Abnormality of the immune system
4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
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