IRF2BPL
Chr 14ADinterferon regulatory factor 2 binding protein like
Also known as: C14orf4, EAP1, NEDAMSS
This gene encodes a transcription factor that regulates female reproductive function. Mutations cause a neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures through an autosomal dominant inheritance pattern. The pathogenic mechanism involves loss of function, consistent with the protein's high intolerance to loss-of-function variants.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
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
IRF2BPL · 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
External Resources
Links to major genomics databases and tools