RFX7
Chr 15ADregulatory factor X7
Also known as: MRD71, RFXDC2
RFX7 encodes a transcription factor that activates target genes including PDCD4, PIK3IP1, MXD4, PNRC1, and RFX5, and functions in natural killer cell maintenance and neural tube ciliogenesis. Mutations cause autosomal dominant intellectual developmental disorder with behavioral abnormalities. This gene is highly constrained against loss-of-function variants (pLI=1.0, LOEUF=0.13), indicating intolerance to protein-truncating mutations.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Mild missense constraint
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
RFX7 · 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