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DNAJC3

Synonyms
ACPHD, ERdj6, HP58, P58, P58IPK, PRKRI, p58(IPK)
External resources
Summary
This gene encodes a protein with multiple tetratricopeptide repeat (TPR) motifs as well as the highly conserved J domain found in DNAJ chaperone family members. It is a member of the tetratricopeptide repeat family of proteins and acts as an inhibitor of the interferon-induced, dsRNA-activated protein kinase (PKR).

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
5
Likely pathogenic
1
VUS
2,823
Likely benign
721
Benign
1,057

Patient phenotypes

Proportions of phenotypes among 6 patients carrying pathogenic or likely pathogenic variants on DNAJC3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
66.7%
Abnormality of head or neck
50%
Abnormality of the nervous system
50%
Growth abnormality
50%
Abnormal cellular phenotype
16.7%
Abnormality of blood and blood-forming tissues
16.7%
Abnormality of the digestive system
16.7%
Abnormality of the eye
16.7%
Abnormality of the immune system
16.7%
Abnormality of the integument
16.7%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary 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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