SPRYD7
Chr 13SPRY domain containing 7
Also known as: C13orf1, CLLD6
This gene encodes a protein containing a SPRY domain that is involved in protein-protein interactions and cellular signaling pathways. Mutations in SPRYD7 cause autosomal recessive intellectual disability with distinctive facial features and developmental delay. The gene shows low constraint against loss-of-function variants, consistent with the recessive inheritance pattern observed in affected individuals.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SPRYD7 · 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