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TDRD9

Synonyms
C14orf75, HIG-1, HLS, NET54, SPGF30, SPNE
External resources
Summary
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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
28
Likely pathogenic
0
VUS
25,470
Likely benign
13,646
Benign
381

Patient phenotypes

Proportions of phenotypes among 28 patients carrying pathogenic or likely pathogenic variants on TDRD9 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of head or neck
25%
Abnormality of the musculoskeletal system
25%
Abnormality of the cardiovascular system
21.4%
Growth abnormality
17.9%
Abnormality of limbs
7.1%
Abnormality of the digestive system
7.1%
Abnormality of the ear
7.1%
Abnormality of the genitourinary system
7.1%
Abnormality of the immune system
7.1%
Abnormality of the integument
7.1%
Abnormality of blood and blood-forming tissues
3.6%
Abnormality of the eye
3.6%
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%
Constitutional symptom
0%
Neoplasm
0%

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