TBC1D24
Chr 16ADARTBC1 domain family member 24
Also known as: DEE16, DFNA65, DFNB86, DOORS, EIEE16, EIM, EPRPDC, FIME
The protein functions as a GTPase-activating protein that regulates Rab small GTPases involved in membrane trafficking. Mutations cause a spectrum of disorders including developmental and epileptic encephalopathy, familial infantile myoclonic epilepsy, DOORS syndrome, and both autosomal dominant and recessive forms of deafness. The condition follows both autosomal dominant and autosomal recessive inheritance patterns, with pathogenicity resulting from disrupted membrane trafficking regulation.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
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.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
400 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 | 29 | 1 | 6 | 0 | 36 |
Likely Pathogenic | 8 | 4 | 1 | 0 | 13 |
VUS | 2 | 193 | 16 | 5 | 216 |
Likely Benign | 0 | 1 | 47 | 66 | 114 |
Benign | 0 | 0 | 5 | 0 | 5 |
Conflicting | — | 6 | |||
| Total | 39 | 199 | 75 | 71 | 390 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TBC1D24 · 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 →External Resources
Links to major genomics databases and tools