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SPTB

Synonyms
EL3, HS2, HSPTB1, SPH2
External resources
Summary
This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described.

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
96
Likely pathogenic
0
VUS
14,351
Likely benign
5,840
Benign
1,556

Patient phenotypes

Proportions of phenotypes among 95 patients carrying pathogenic or likely pathogenic variants on SPTB gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
30.5%
Abnormality of the cardiovascular system
24.2%
Abnormality of the musculoskeletal system
18.9%
Abnormality of the ear
15.8%
Abnormality of head or neck
13.7%
Abnormality of blood and blood-forming tissues
12.6%
Abnormality of the genitourinary system
12.6%
Growth abnormality
11.6%
Abnormality of the digestive system
9.5%
Abnormality of the immune system
9.5%
Abnormality of the eye
7.4%
Abnormality of the integument
7.4%
Abnormality of the respiratory system
3.2%
Abnormal cellular phenotype
2.1%
Abnormality of prenatal development or birth
2.1%
Abnormality of limbs
1.1%
Neoplasm
1.1%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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