BRWD3
Chr XXLRbromodomain and WD repeat domain containing 3
Also known as: BRODL, DCAF20, MRX93, XLID93
The BRWD3 protein contains a bromodomain and WD repeats that function in chromatin modification and transcriptional regulation, and also controls cell morphology and cytoskeletal organization. Mutations cause X-linked intellectual developmental disorder with macrocephaly. This gene is extremely intolerant to loss-of-function variation and follows X-linked recessive inheritance.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BRWD3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools