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ANKRD2

Synonyms
ARPP
External resources
Summary
This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms.

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
11
Likely pathogenic
0
VUS
2,252
Likely benign
158
Benign
0

Patient phenotypes

Proportions of phenotypes among 11 patients carring pathogenic or likely pathogenic variants on ANKRD2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
36.4%
Abnormality of head or neck
27.3%
Abnormality of the integument
27.3%
Abnormality of the musculoskeletal system
27.3%
Abnormality of limbs
18.2%
Abnormality of the cardiovascular system
18.2%
Abnormality of the nervous system
18.2%
Abnormality of the respiratory system
18.2%
Growth abnormality
18.2%
Abnormality of blood and blood-forming tissues
9.1%
Abnormality of prenatal development or birth
9.1%
Abnormality of the digestive system
9.1%
Abnormality of the ear
9.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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