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TPRN

Synonyms
C9orf75, DFNB79
External resources
Summary
This locus encodes a sensory epithelial protein. It was defined by linkage analysis in three Pakistani families to lie between D9S1818 (centromeric) and D9SH6 (telomeric). Mutations at this locus have been associated with autosomal recessive deafness.

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
462
Likely pathogenic
2
VUS
3,656
Likely benign
1,700
Benign
121

Patient phenotypes

Proportions of phenotypes among 245 patients carrying pathogenic or likely pathogenic variants on TPRN gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
30.6%
Abnormality of the cardiovascular system
29.8%
Abnormality of the musculoskeletal system
18%
Abnormality of the ear
16.3%
Abnormality of the eye
14.7%
Abnormality of head or neck
13.1%
Growth abnormality
9.8%
Abnormality of the genitourinary system
9%
Abnormality of the digestive system
6.9%
Abnormality of limbs
5.3%
Abnormality of the integument
4.5%
Abnormality of the endocrine system
4.1%
Abnormality of blood and blood-forming tissues
3.7%
Abnormality of the immune system
3.7%
Abnormality of the respiratory system
3.3%
Abnormality of prenatal development or birth
2.9%
Neoplasm
2.4%
Constitutional symptom
0.4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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