CDHR1

Chr 10AR

cadherin related family member 1

Also known as: CORD15, PCDH21, PRCAD, RP65

NCBI Gene: 92211ENSG00000148600UniProt: Q96JP9OMIM: 609502

This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Cone-rod dystrophy 15MIM #613660
AR
Macular dystrophy, retinalMIM #613660
AR
Retinitis pigmentosa 65MIM #613660
AR

Clinical highlights

Gene-disease validity (ClinGen)
retinitis pigmentosa 65 · 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
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.31
LOEUF
LOF
Mechanism· G2P

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.31LOEUF
pLI 0.000
Z-score 0.13
OE 0.98 (0.74–1.31)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.70Z-score
OE missense 1.09 (1.01–1.17)
534 obs / 490.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.98 (0.74–1.31)
0≤0.351.4
Missense OE?1.09 (1.01–1.17)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 32 / 32.8Missense obs/exp: 534 / 490.6Syn Z: -0.23

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

CDHR1 · 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