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BRDT

Synonyms
BRD6, CT9, SPGF21
External resources
Summary
BRDT is similar to the RING3 protein family. It possesses 2 bromodomain motifs and a PEST sequence (a cluster of proline, glutamic acid, serine, and threonine residues), characteristic of proteins that undergo rapid intracellular degradation. The bromodomain is found in proteins that regulate transcription. Several transcript variants encoding multiple isoforms have been found for this gene.

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
3,073
Likely benign
448
Benign
1

Patient phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on BRDT gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.7%
Abnormality of the cardiovascular system
40%
Abnormality of the digestive system
13.3%
Abnormality of the ear
13.3%
Abnormality of the eye
13.3%
Abnormality of the immune system
13.3%
Abnormality of the integument
13.3%
Abnormality of the musculoskeletal system
13.3%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of head or neck
6.7%
Abnormality of limbs
6.7%
Abnormality of prenatal development or birth
6.7%
Abnormality of the genitourinary system
6.7%
Abnormality of the voice
6.7%
Growth abnormality
6.7%
Neoplasm
6.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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