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SKIL

Synonyms
SNO, SnoA, SnoI, SnoN
External resources
Summary
The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex. TGFB signaling causes SMAD3 to enter the nucleus and degrade this protein, allowing these genes to be activated. Four transcript variants encoding three 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
2
Likely pathogenic
0
VUS
2,833
Likely benign
2,688
Benign
0

Patient phenotypes

Proportions of phenotypes among 2 patients carring pathogenic or likely pathogenic variants on SKIL gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of limbs
50%
Abnormality of the digestive system
50%
Abnormality of the genitourinary system
50%
Abnormality of the musculoskeletal system
50%
Abnormality of the nervous system
50%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of head or neck
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
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%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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