Gene: TBC1D24

Alternate names for this Gene: DEE16|DFNA65|DFNB86|DOORS|EIEE16|EPRPDC|FIME|TLDC6

Gene Summary: 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.3

Description of this Gene: TBC1 domain family member 24

Type of Gene: protein-coding

rs201257588 in TBC1D24 gene and Abnormality of brain morphology PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

rs201257588 in TBC1D24 gene and Abnormality of digit PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

rs201257588 in TBC1D24 gene and Abnormality of the skull PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

rs398122965 in TBC1D24 gene and Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

PMID 27281533 2016 TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

PMID 27502353 2016 Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy.

PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

rs376712059 in TBC1D24 gene and DEAFNESS, AUTOSOMAL DOMINANT 65 PMID 25769375 2015 Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

PMID 28292732 2017 Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.

PMID 28428906 2017 TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

PMID 27281533 2016 TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

PMID 24729547 2014 A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment.

PMID 24729539 2014 TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

PMID 27502353 2016 Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy.

rs199700840 in TBC1D24 gene and DEAFNESS, AUTOSOMAL RECESSIVE 86 PMID 24387994 2014 Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

PMID 25769375 2015 Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

PMID 28292732 2017 Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.

PMID 28428906 2017 TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

rs201257588 in TBC1D24 gene and Digitorenocerebral Syndrome PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

PMID 25769375 2015 Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

PMID 28428906 2017 TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

PMID 28292732 2017 Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.

rs398122965 in TBC1D24 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 PMID 27281533 2016 TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

PMID 27502353 2016 Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy.

rs376712059 in TBC1D24 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 PMID 28292732 2017 Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.

PMID 28428906 2017 TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

PMID 25769375 2015 Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

PMID 27541164 2016 Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.

PMID 23526554 2013 Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

rs267607103 in TBC1D24 gene and Epilepsy, Myoclonic, Infantile PMID 20727515 2010 TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.

PMID 20797691 2010 A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

PMID 28428906 2017 TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

PMID 25769375 2015 Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

PMID 28292732 2017 Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.

rs202162520 in TBC1D24 gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

rs796053403 in TBC1D24 gene and Movement Disorders PMID 28428906 2017 TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

PMID 28663785 2017 Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability.

PMID 24387994 2014 Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

PMID 25769375 2015 Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

PMID 26207815 2015 A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.

PMID 28292732 2017 Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.

PMID 27541164 2016 Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.

PMID 24469796 2014 TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway.

PMID 27281533 2016 TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

rs201257588 in TBC1D24 gene and Nail abnormality PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

rs1057519629 in TBC1D24 gene and Parkinsonian Disorders PMID 27541164 2016 Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.

rs201257588 in TBC1D24 gene and Poor school performance PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

rs201257588 in TBC1D24 gene and Seizures PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

rs201257588 in TBC1D24 gene and Sensorineural hearing loss, bilateral PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

rs201257588 in TBC1D24 gene and Triphalangeal thumb PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.