PDZD7

Chr 10

PDZ domain containing 7

Also known as: DFNB57, PDZK7

NCBI Gene: 79955ENSG00000186862UniProt: Q9H5P4

This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDeafness, autosomal recessive, 57
UniProtUsher syndrome 2C
UniProtUsher syndrome 2A

Clinical highlights

Gene-disease validity (ClinGen)
hearing loss, autosomal recessive · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.13
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — PDZD7
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.13LOEUF
pLI 0.000
Z-score 1.07
OE 0.76 (0.52–1.13)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.37Z-score
OE missense 1.06 (0.97–1.16)
349 obs / 330.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.76 (0.52–1.13)
0≤0.351.4
Missense OE?1.06 (0.97–1.16)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 17 / 22.5Missense obs/exp: 349 / 330.0Syn Z: 0.32

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PDZD7 · 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