PDE6D
Chr 2ARphosphodiesterase 6D
Also known as: JBTS22, PDED
The encoded protein promotes the release of prenylated proteins from cellular membranes and is required for normal ciliary targeting of farnesylated proteins, functioning as a GTP-specific dissociation inhibitor that modulates ARL3 activity. Mutations cause Joubert syndrome 22, a ciliopathy affecting the brain, kidneys, liver, and retina. This condition follows autosomal recessive inheritance.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
112 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 | 4 | 0 | 32 | 0 | 36 |
Likely Pathogenic | 2 | 0 | 1 | 0 | 3 |
VUS | 0 | 22 | 8 | 1 | 31 |
Likely Benign | 0 | 2 | 16 | 21 | 39 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 6 | 24 | 57 | 22 | 109 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PDE6D · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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