CDRT4
Chr 17ADARCMT1A duplicated region transcript 4
CDRT4 encodes a protein involved in peripheral nerve myelination and maintenance. Mutations cause various forms of Charcot-Marie-Tooth disease (types 1A and 1E), Dejerine-Sottas disease, recurrent neuropathy with pressure palsies, and Roussy-Levy syndrome, primarily affecting peripheral nerves with demyelinating features. The inheritance pattern is typically autosomal dominant, though autosomal recessive forms have been reported.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
150 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 | 0 | 0 | 115 | 0 | 115 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 19 | 5 | 0 | 24 |
Likely Benign | 0 | 5 | 2 | 0 | 7 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 24 | 125 | 0 | 149 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CDRT4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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 →No open access results found
External Resources
Links to major genomics databases and tools