BRWD3 Chromosome X
Bromodomain and WD repeat domain containing 3
Upload your DNA to see your personal genotypes for variants in BRWD3.
What This Gene Does
The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene are associated with a spectrum of cognitive disabilities and X-linked macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
Bromodomain and WD repeat domain containing
Locus Type
gene with protein product
Location
Xq21.1
Ensembl
ENSG00000165288
Associated Conditions (6)
Intellectual disability
X-linked 93
Inborn genetic diseases
Conotruncal heart malformations
BRWD3-related disorder
Neurodevelopmental disorder
Key Variants
RS1034284582
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 93, Intellectual disability
Health Risk
RS1044378926
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1365305675
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138240307
Conflicting classifications of pathogenicity
Health Risk
RS146413988
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200751676
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 93, Inborn genetic diseases
Health Risk
RS202197853
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 93, Inborn genetic diseases
Health Risk
RS372374523
Conflicting classifications of pathogenicity
Health Risk
RS375704347
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 93, Intellectual disability
Health Risk
RS41300244
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 93, Intellectual disability
Health Risk
RS759415396
Conflicting classifications of pathogenicity
BRWD3-related disorder, BRWD3-related disorder
Health Risk
RS759779733
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 93, Intellectual disability
Health Risk
All Variants (62)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1034284582 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 93, Intellectual disability |
| RS1044378926 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1365305675 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS138240307 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146413988 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200751676 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 93, Inborn genetic diseases |
| RS202197853 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 93, Inborn genetic diseases |
| RS372374523 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375704347 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 93, Intellectual disability |
| RS41300244 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 93, Intellectual disability |
| RS759415396 | Health Risk | Conflicting classifications of pathogenicity | BRWD3-related disorder, BRWD3-related disorder |
| RS759779733 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 93, Intellectual disability |
| RS765182070 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765604641 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 93, Intellectual disability |
| RS767555361 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771767698 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 93, Intellectual disability |
| RS773723606 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS775682673 | Health Risk | Conflicting classifications of pathogenicity | BRWD3-related disorder, BRWD3-related disorder |
| RS778419234 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, X-linked 93 |
| RS779094763 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS797045419 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS863224851 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 93, Intellectual disability |
| RS1569290395 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 93, Intellectual disability |
| RS2147666884 | Health Risk | Likely pathogenic | — |
| RS2147678364 | Health Risk | Likely pathogenic | — |
| RS2147755986 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 93, Intellectual disability |
| RS2147856928 | Health Risk | Likely pathogenic | — |
| RS2520212243 | Health Risk | Likely pathogenic | BRWD3-related disorder, BRWD3-related disorder |
| RS2520219483 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 93, Intellectual disability |
| RS2520223550 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 93, Intellectual disability |
| RS2520232100 | Health Risk | Likely pathogenic | — |
| RS2520558980 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 93, Intellectual disability |
| RS2521148248 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 93, Intellectual disability |
| RS2521156554 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 93, Intellectual disability |
| RS746536339 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 93, Intellectual disability |
| RS750080794 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 93, Intellectual disability |
| RS867076374 | Health Risk | Likely pathogenic | — |
| RS1057518202 | Health Risk | Pathogenic | — |
| RS1057518650 | Health Risk | Pathogenic | Intellectual disability, X-linked 93, Intellectual disability |
| RS137853272 | Health Risk | Pathogenic | Intellectual disability, X-linked 93, Intellectual disability |
| RS1569242657 | Health Risk | Pathogenic | — |
| RS1569245569 | Health Risk | Pathogenic | — |
| RS1602308324 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS1602311804 | Health Risk | Pathogenic | Intellectual disability, X-linked 93, Intellectual disability |
| RS2072372599 | Health Risk | Pathogenic | — |
| RS2072535700 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2072586760 | Health Risk | Pathogenic | — |
| RS2072632819 | Health Risk | Pathogenic | — |
| RS2147690107 | Health Risk | Pathogenic | — |
| RS2520208301 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |