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NBEAL2

Synonyms
BDPLT4, GPS
External resources
Summary
The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome.

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
33
Likely pathogenic
29
VUS
4,045
Likely benign
25,252
Benign
0

Patient phenotypes

Proportions of phenotypes among 53 patients carring pathogenic or likely pathogenic variants on NBEAL2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.5%
Abnormality of the musculoskeletal system
32.1%
Abnormality of the eye
26.4%
Abnormality of head or neck
24.5%
Growth abnormality
18.9%
Abnormality of limbs
17%
Abnormality of the ear
17%
Abnormality of the integument
17%
Abnormality of the genitourinary system
15.1%
Abnormality of the digestive system
11.3%
Abnormality of the cardiovascular system
9.4%
Abnormality of blood and blood-forming tissues
7.5%
Abnormality of the respiratory system
7.5%
Abnormality of the immune system
5.7%
Abnormality of prenatal development or birth
3.8%
Neoplasm
3.8%
Abnormal cellular phenotype
1.9%
Abnormality of the breast
1.9%
Abnormality of the endocrine system
1.9%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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