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TMEM266

Synonyms
C15orf27, HVRP1, HsHVRP1, hTMEM266
External resources

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
18
Likely pathogenic
4
VUS
2,568
Likely benign
546
Benign
0

Patient Phenotypes

Proportions of phenotypes among 13 patients carrying pathogenic or likely pathogenic variants on TMEM266 gene are displayed below. The following symptoms were found in patients with a variant in TMEM266. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.2%
Growth abnormality
38.5%
Abnormality of head or neck
30.8%
Abnormality of the eye
23.1%
Abnormality of the musculoskeletal system
23.1%
Abnormality of the cardiovascular system
15.4%
Abnormality of limbs
7.7%
Abnormality of the ear
7.7%
Abnormality of the immune system
7.7%
Abnormality of the integument
7.7%
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 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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