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BAZ2B

Synonyms
WALp4
External resources
Summary
This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preference for the activating H3K14Ac mark in a histone peptide screen, suggesting a potential role in transcriptional activation. This gene may be associated with susceptibility to sudden cardiac death (SCD).

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
15
Likely pathogenic
0
VUS
14,171
Likely benign
14,228
Benign
7,454

Patient phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on BAZ2B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
64.3%
Abnormality of head or neck
35.7%
Abnormality of the nervous system
35.7%
Abnormality of limbs
21.4%
Abnormality of the integument
21.4%
Abnormality of the musculoskeletal system
21.4%
Growth abnormality
14.3%
Abnormality of blood and blood-forming tissues
7.1%
Abnormality of the breast
7.1%
Abnormality of the cardiovascular system
7.1%
Abnormality of the ear
7.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
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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