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PLS1

Synonyms
DFNA76
External resources
Summary
Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. The protein encoded by this gene is a third distinct plastin isoform, which is specifically expressed at high levels in the small intestine. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. A pseudogene of this gene is found on chromosome 11.

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
6
Likely pathogenic
0
VUS
2,540
Likely benign
1,821
Benign
1,559

Patient phenotypes

Proportions of phenotypes among 6 patients carring pathogenic or likely pathogenic variants on PLS1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
66.7%
Abnormality of head or neck
33.3%
Abnormality of the integument
33.3%
Abnormality of the musculoskeletal system
33.3%
Growth abnormality
33.3%
Abnormality of limbs
16.7%
Abnormality of the ear
16.7%
Abnormality of the genitourinary system
16.7%
Abnormality of the nervous system
16.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
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 digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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