Gene
TBC1D24
TBC1 domain family member 24
- HGNC 29203(opens in a new tab)
- Ensembl gene ENSG00000162065(opens in a new tab)
- NCBI Gene 57465(opens in a new tab)
Summary
- Cytogenetic location
- 16p13.3
- Coordinates
- Chromosome 16: 2,475,127–2,505,730 (GRCh38)
- Exons
- 8 exons across 30.6 kb
- Protein
- 559 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- KIAA1171, TLDC6, DFNA65
- Previous symbols
- DFNB86
- MANE Select transcript
- ENST00000646147.1NM_001199107.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Hearing Loss and Deafness
- Autosomal Dominant Nonsyndromic Hearing LossAutosomal dominant
Autosomal dominant form of nonsyndromic deafness.
- 1 GenCC submitter rates it definitive or strong
- Nonsyndromic Genetic Hearing Loss
One of 97 genes linked to it
Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.
Broader groupings
Epilepsy (Full Panel)
- Epilepsy
One of 171 genes linked to it
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
- 2 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How TBC1D24 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 6.6 kb of the gene's 30.6 kb; 1,680 of those bases code for the protein.
How a genome test reads TBC1D24
86
positions in TBC1D24 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 30.6 kb of TBC1D24, introns included, not only the 6.6 kb of exons.
Traits linked to TBC1D24
The Human Phenotype Ontology lists these as features of the rare conditions TBC1D24 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Clonic seizure
- Clumsy tandem walking
- Degeneration of cerebrum
- Epilepsy
- Epileptic encephalopathy
- Focal motor seizure
- Global developmental delay
- Intellectual disability
Show 70 more traits
- Loss of developmental milestones
- Paroxysmal dystonia
- Peripheral nerve disease
- Abnormal pyramidal sign
- Attention deficit
- Cognitive impairment
- Dystonia
- EEG abnormality
- EEG with irregular generalized spike and wave complexes
- Generalized myoclonic seizure
- Grand mal seizures
- Hand tremor
- Inability to walk
- Intellectual disability, mild
- Jerking
- Multifocal epileptiform discharges
- Neurodevelopmental delay
- Aggressive behavior
- Bilateral tonic-clonic seizure with focal onset
- Bilateral tonic-clonic seizure with generalized onset
- Decreased reflex response
- Degeneration of cerebellum
- Delayed CNS myelination
- Difficulty articulating speech
- EEG with focal spike waves
- EEG with parietal focal spike waves
- EEG with parietal sharp waves
- Focal emotional seizure with laughing
- Focal hemiclonic seizure
- Focal hemifacial clonic seizure
- Focal impaired awareness seizure
- Inability to coordinate movements when walking
- Incoordination
- Interictal EEG abnormality
- Irritability
- Mental deterioration
- Myoclonic seizure
- Poor hand-eye coordination
- Prolonged somatosensory evoked potentials
- Repeated seizures without recovery between them
- Seizure affecting one half of brain
- Simple febrile seizure
- Thick cerebral cortex
- Writer's cramp
- Abnormal corpus callosum morphology
- Abnormality of extrapyramidal motor function
- Ataxia
- Autism spectrum disorder
- Brief seizures with staring spells
- Delayed fine motor development
- Delayed myelination
- Delayed speech and language development
- Diffuse cerebellar atrophy
- Diffuse cerebral atrophy
- Epileptic spasm
- Excessive daytime sleepiness
- Febrile seizure (within the age range of 3 months to 6 years)
- Hypsarrhythmia
- Language impairment
- Limb ataxia
- Paralysis on one side of body
- Peripheral neuropathy
- Photosensitive tonic-clonic seizure
- Small cerebellar cortex
- Twitching
- Weakness of one side of body
- Arrhinencephaly
- More grooves in brain
- Spina bifida occulta
- Ventriculomegaly
Abnormality of head or neck
- Bulbous nose
- Gum enlargement
- Downturned corners of mouth
- Long philtrum
- Nasal tip, upturned
- Recurrent colds
- Wide nasal base
- Wide nasal bridge
Show 28 more traits
- Abnormally small head
- Coarse facial features
- Eye folds
- Full lower lip
- High palate
- Low frontal hairline
- Narrow forehead
- Open mouth
- Thickened skin folds of neck
- Thin red part of the upper lip
- Abnormal dentition
- Broad head shape
- Broad nasal tip
- Cleft palate
- Dandy-Walker malformation
- Delayed eruption of permanent teeth
- Early closure of midline skull joint
- Eyelid spasm
- Frontal bossing
- Macrodontia of permanent maxillary central incisor
- Narrow palate
- Prominent back of the head
- Short lingual frenulum
- Wide gum ridges
- Widely spaced teeth
- Anterior flat head syndrome
- Development of small head that was not present at birth
- Drooping lower lip
Abnormality of limbs
- Short outermost finger bone
- Abnormalities of the fingers
- Abnormalities of the toes
- Absent/small bones of 2nd toe
- Curvature of little finger
- Finger-like thumb
- Long thumb
- Short 5th finger
Show 3 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). TBC1D24 gene: TBC1 domain family member 24. Retrieved 17 October 2026, from https://dantelabs.com/genes/tbc1d24
Dante Labs. TBC1D24 gene: TBC1 domain family member 24 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tbc1d24
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