FOXD2
Chr 1forkhead box D2
Also known as: FKHL17, FREAC-9, FREAC9
FOXD2 encodes a forkhead domain transcription factor involved in embryonic development and body formation. Mutations cause autosomal dominant intellectual disability with variable features that may include seizures, autism spectrum disorder, and developmental delays. The gene shows relatively low constraint to loss-of-function variants, consistent with the variable expressivity 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
100 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 0 | 4 | 0 | 5 |
Likely Pathogenic | 0 | 1 | 3 | 0 | 4 |
VUS | 0 | 82 | 1 | 0 | 83 |
Likely Benign | 0 | 2 | 1 | 3 | 6 |
Benign | 0 | 1 | 0 | 0 | 1 |
Conflicting | — | 1 | |||
| Total | 1 | 86 | 9 | 3 | 100 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FOXD2 · 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