PDZD8

Chr 10AR

PDZ domain containing 8

Also known as: IDDADF, LYVAC, PDZK8

NCBI Gene: 118987ENSG00000165650UniProt: Q8NEN9OMIM: 614235

Predicted to enable lipid binding activity and zinc ion binding activity. Involved in several processes, including mitochondrial calcium ion homeostasis; mitochondrion-endoplasmic reticulum membrane tethering; and regulation of cell morphogenesis. Located in endoplasmic reticulum membrane and mitochondria-associated endoplasmic reticulum membrane contact site. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder with autism and dysmorphic faciesMIM #620021
AR

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
21
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.20
LOEUF· LoF intol.
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.20LOEUF
pLI 1.000
Z-score 5.27
OE 0.08 (0.04–0.20)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
1.57Z-score
OE missense 0.82 (0.76–0.89)
512 obs / 622.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.08 (0.04–0.20)
0≤0.351.4
Missense OE?0.82 (0.76–0.89)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 3 / 38.2Missense obs/exp: 512 / 622.4Syn Z: -0.61

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PDZD8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients