CNNM4
Chr 2ARcyclin and CBS domain divalent metal cation transport mediator 4
Also known as: ACDP4, SLC70A4
This gene encodes a metal transporter that functions in sensory neuron activity, biomineralization, and retinal function. Mutations cause Jalili syndrome, characterized by cone-rod dystrophy and amelogenesis imperfecta (defective tooth enamel formation). The condition follows autosomal recessive inheritance.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Moderately missense-constrained (top ~2.5%)
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
448 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 | 11 | 3 | 22 | 0 | 36 |
Likely Pathogenic | 4 | 7 | 6 | 0 | 17 |
VUS | 1 | 162 | 26 | 7 | 196 |
Likely Benign | 0 | 3 | 38 | 134 | 175 |
Benign | 0 | 0 | 7 | 5 | 12 |
Conflicting | — | 3 | |||
| Total | 16 | 175 | 99 | 146 | 439 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CNNM4 · 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