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SNTG2

Synonyms
G2SYN, SYN5
External resources
Summary
This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described.

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
0
VUS
3,638
Likely benign
180
Benign
0

Patient Phenotypes

Proportions of phenotypes among 17 patients carrying pathogenic or likely pathogenic variants on SNTG2 gene are displayed below. The following symptoms were found in patients with a variant in SNTG2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.2%
Abnormality of the eye
35.3%
Abnormality of the musculoskeletal system
35.3%
Abnormality of head or neck
29.4%
Growth abnormality
23.5%
Abnormality of limbs
17.6%
Abnormality of the ear
17.6%
Abnormality of blood and blood forming tissues
11.8%
Abnormality of the digestive system
11.8%
Abnormality of the integument
11.8%
Abnormality of metabolism homeostasis
5.9%
Abnormality of the cardiovascular system
5.9%
Abnormality of the respiratory system
5.9%
Neoplasm
5.9%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
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%

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