CHAMP1
Chr 13ADchromosome alignment maintaining phosphoprotein 1
Also known as: C13orf8, CAMP, CHAMP, MRD40, NEDHILD, ZNF828
CHAMP1 encodes a zinc finger protein required for proper chromosome alignment at metaphase and accurate chromosome segregation during mitosis by maintaining spindle microtubule attachment to kinetochores. Mutations cause autosomal dominant neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features. This represents an autosomal dominant intellectual disability syndrome with early childhood onset affecting neurological development and growth.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% 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
CHAMP1 · 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