ROGDI
Chr 16ARrogdi atypical leucine zipper
The ROGDI protein is involved in brain development, neurogenesis, and tooth dentin formation, and is located in the nuclear envelope. Mutations cause Kohlschutter-Tonz syndrome, a rare autosomal recessive disorder characterized by early-onset seizures, intellectual disability, and distinctive dental abnormalities. The gene shows tolerance to loss-of-function variants (very low pLI score), which is consistent with the recessive inheritance pattern observed clinically.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ROGDI · 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