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SCEL

Synonyms
-
External resources
Summary
The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Transcript variants encoding different isoforms exist. A transcript variant utilizing an alternative polyA signal has been described in the literature, but its full-length nature has not been determined.

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
28
Likely pathogenic
0
VUS
9,693
Likely benign
437
Benign
0

Patient Phenotypes

Proportions of phenotypes among 27 patients carrying pathogenic or likely pathogenic variants on SCEL gene are displayed below. The following symptoms were found in patients with a variant in SCEL. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.4%
Abnormality of the musculoskeletal system
37%
Abnormality of head or neck
22.2%
Abnormality of limbs
11.1%
Abnormality of the cardiovascular system
11.1%
Abnormality of the ear
11.1%
Abnormality of the eye
11.1%
Abnormality of metabolism homeostasis
7.4%
Abnormality of the digestive system
7.4%
Growth abnormality
7.4%
Abnormality of blood and blood forming tissues
3.7%
Abnormality of prenatal development or birth
3.7%
Abnormality of the immune system
3.7%
Abnormality of the integument
3.7%
Abnormality of the respiratory system
3.7%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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