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ANO2

Synonyms
C12orf3, TMEM16B
External resources
Summary
ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009

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
29
Likely pathogenic
0
VUS
16,925
Likely benign
1,296
Benign
0

Patient Phenotypes

Proportions of phenotypes among 29 patients carrying pathogenic or likely pathogenic variants on ANO2 gene are displayed below. The following symptoms were found in patients with a variant in ANO2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.9%
Abnormality of the cardiovascular system
27.6%
Abnormality of the eye
27.6%
Abnormality of the musculoskeletal system
27.6%
Abnormality of blood and blood forming tissues
13.8%
Abnormality of the genitourinary system
13.8%
Growth abnormality
13.8%
Abnormality of head or neck
10.3%
Abnormality of metabolism homeostasis
10.3%
Abnormality of the ear
10.3%
Abnormality of the digestive system
6.9%
Abnormality of the respiratory system
6.9%
Abnormality of the immune system
3.4%
Abnormality of the integument
3.4%
Neoplasm
3.4%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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