TBC1D24

Chr 16

TBC1 domain family member 24

Also known as: DEE16, DFNA65, DFNB86, DOORS, EIEE16, EIM, EPRPDC, FIME

NCBI Gene: 57465ENSG00000162065UniProt: Q9ULP9

This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtFamilial infantile myoclonic epilepsy
UniProtDevelopmental and epileptic encephalopathy 16
UniProtDeafness, autosomal dominant, 65
UniProtDeafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome

Clinical highlights

Gene-disease validity (ClinGen)
DOORS syndrome · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
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
16
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.12
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — TBC1D24
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.12LOEUF
pLI 0.000
Z-score 1.14
OE 0.73 (0.49–1.12)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.76Z-score
OE missense 0.89 (0.81–0.97)
312 obs / 351.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.73 (0.49–1.12)
0≤0.351.4
Missense OE?0.89 (0.81–0.97)
0≤0.61.4
Synonymous OE?1.10
0≤1.21.6
LoF obs/exp: 15 / 20.6Missense obs/exp: 312 / 351.9Syn Z: -0.99

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

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