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SMG1

Synonyms
61E3.4, ATX, LIP
External resources
Summary
This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
16
Likely pathogenic
0
VUS
20,334
Likely benign
2,206
Benign
0

Patient phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on SMG1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.7%
Abnormality of head or neck
13.3%
Abnormality of the cardiovascular system
13.3%
Abnormality of the digestive system
13.3%
Abnormality of the ear
13.3%
Abnormality of the musculoskeletal system
13.3%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of limbs
6.7%
Abnormality of the eye
6.7%
Abnormality of the genitourinary system
6.7%
Constitutional symptom
6.7%
Neoplasm
6.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Growth abnormality
0%

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