PHF10
Chr 6PHD finger protein 10
Also known as: BAF45A, SMARCG4, XAP135
PHF10 encodes a chromatin remodeling protein that belongs to the neural progenitor-specific BAF complex (npBAF) and regulates transcription by switching from stem cell to neuronal chromatin remodeling during brain development. Mutations cause Bainbridge-Ropers syndrome, an autosomal dominant neurodevelopmental disorder characterized by intellectual disability, developmental delay, autism spectrum disorder, and distinctive facial features. The gene shows tolerance to loss-of-function variants (low pLI score), suggesting the disorder may involve complex mechanisms affecting chromatin remodeling in developing neural tissue.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PHF10 · 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