Home > Gene Browser > PADI6

PADI6

Synonyms
PREMBL2, hPADVI
External resources
Summary
This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. This protein may play a role in cytoskeletal reorganization in the egg and in early embryo development.

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
20
Likely pathogenic
0
VUS
16,502
Likely benign
2,443
Benign
0

Patient phenotypes

Proportions of phenotypes among 20 patients carrying pathogenic or likely pathogenic variants on PADI6 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
35%
Abnormality of the cardiovascular system
25%
Abnormality of the nervous system
25%
Abnormality of head or neck
20%
Abnormality of the ear
15%
Growth abnormality
15%
Abnormality of the integument
10%
Abnormality of limbs
5%
Abnormality of the eye
5%
Abnormality of the genitourinary system
5%
Constitutional symptom
5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
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