CTAGE1
Chr 18cutaneous T cell lymphoma-associated antigen 1
Also known as: CT21.1, CT21.2, CTAGE, CTAGE-1, CTAGE-2
The CTAGE1 protein is involved in endoplasmic reticulum to Golgi vesicle-mediated transport, protein secretion, and vesicle cargo loading. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, epilepsy, and developmental delays. This represents a recently identified genetic cause of early-onset epileptic encephalopathy affecting cellular secretory pathways.
Some data sources returned errors (1)
gnomad: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
Constraint data not available from gnomAD.
The highest-scoring mechanism for this gene is dominant-negative.
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
185 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 | 31 | 0 | 31 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 131 | 5 | 0 | 136 |
Likely Benign | 0 | 9 | 0 | 1 | 10 |
Benign | 0 | 4 | 0 | 1 | 5 |
Conflicting | — | 1 | |||
| Total | 0 | 144 | 37 | 2 | 184 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CTAGE1 · 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