PDE6C

Chr 10

phosphodiesterase 6C

Also known as: ACHM5, COD4, PDEA2

NCBI Gene: 5146ENSG00000095464UniProt: P51160

This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCone dystrophy 4
UniProtAchromatopsia 5

Clinical highlights

Gene-disease validity (ClinGen)
PDE6C-related retinopathy · 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
22
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.87
LOEUF
LOF
Mechanism· G2P
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GeneReview available — PDE6C
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?
0.87LOEUF
pLI 0.000
Z-score 2.33
OE 0.65 (0.49–0.87)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.14Z-score
OE missense 0.85 (0.78–0.92)
387 obs / 455.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.65 (0.49–0.87)
0≤0.351.4
Missense OE?0.85 (0.78–0.92)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 33 / 51.0Missense obs/exp: 387 / 455.4Syn Z: -1.31

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PDE6C · 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