Home > Gene Browser > TDRD9
TDRD9
- Synonyms
- C14orf75, HIG-1, HLS, NET54, SPGF30, SPNE
- External resources
- NCBI122402
- OMIM617963
- EnsemblENSG00000156414
- HGNCHGNC:20122
- Summary
- -
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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