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SPTAN1

Synonyms
DEE5, EIEE5, NEAS, SPTA2
External resources
Summary
Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.

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
7
Likely pathogenic
3
VUS
7,131
Likely benign
3,612
Benign
8,631

Patient Phenotypes

Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on SPTAN1 gene are displayed below. The following symptoms were found in patients with a variant in SPTAN1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
60%
Abnormality of the musculoskeletal system
60%
Abnormality of the nervous system
60%
Abnormality of the eye
40%
Growth abnormality
40%
Abnormality of limbs
30%
Abnormality of the ear
20%
Abnormality of blood and blood forming tissues
10%
Abnormality of metabolism homeostasis
10%
Abnormality of prenatal development or birth
10%
Abnormality of the cardiovascular system
10%
Abnormality of the digestive system
10%
Abnormality of the genitourinary system
10%
Abnormality of the immune system
10%
Abnormality of the integument
10%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the endocrine 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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