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TUBB1

Synonyms
-
External resources
Summary
This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.

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
1
Likely pathogenic
7
VUS
1,235
Likely benign
585
Benign
1,491

Patient phenotypes

Proportions of phenotypes among 8 patients carrying pathogenic or likely pathogenic variants on TUBB1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.5%
Abnormality of the cardiovascular system
25%
Abnormality of limbs
12.5%
Abnormality of the integument
12.5%
Abnormality of the musculoskeletal system
12.5%
Growth abnormality
12.5%
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 digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the genitourinary 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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