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ANO6

Synonyms
BDPLT7, SCTS, TMEM16F
External resources
Summary
This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

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
24
Likely pathogenic
0
VUS
3,789
Likely benign
6,963
Benign
35

Patient Phenotypes

Proportions of phenotypes among 24 patients carrying pathogenic or likely pathogenic variants on ANO6 gene are displayed below. The following symptoms were found in patients with a variant in ANO6. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.8%
Abnormality of the cardiovascular system
20.8%
Abnormality of the eye
20.8%
Abnormality of head or neck
16.7%
Abnormality of the musculoskeletal system
16.7%
Abnormality of limbs
8.3%
Abnormality of the ear
8.3%
Abnormality of metabolism homeostasis
4.2%
Abnormality of prenatal development or birth
4.2%
Abnormality of the genitourinary system
4.2%
Abnormality of the respiratory system
4.2%
Growth abnormality
4.2%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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