TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
Disease: Digitorenocerebral Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 GeneticVariation disease BEFREE Mutations in the Tre2/Bub2/Cdc16 (TBC)1 domain family member 24 (TBC1D24) gene are associated with a range of inherited neurological disorders, from drug-refractory lethal epileptic encephalopathy and DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, seizures) to non-syndromic hearing loss. 30335140 2019
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 GeneticVariation disease BEFREE Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic deafness, epileptic disorders, or DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, seizures). 30245510 2019
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 Biomarker disease BEFREE Mutations that disrupt the <i>TBC1D24</i> presynaptic protein have been implicated in various neurological disorders including epilepsy, chronic encephalopathy, DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures) syndrome, nonsyndromic hearing loss, and myoclonus. 31226716 2019
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 GeneticVariation disease BEFREE Mutations in TBC1D24 are described in patients with a spectrum of neurological diseases, including mild and severe epilepsies and complex syndromic phenotypes such as Deafness, Onycodystrophy, Osteodystrophy, Mental Retardation and Seizure (DOORS) syndrome. 30858606 2019
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND Genetics of hearing loss in the Arab population of Northern Israel. 30139988 2018
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 GeneticVariation disease BEFREE At present, it is unknown how different mutations of TBC1D24 cause non-syndromic deafness (DFNB86, OMIM 614617), epilepsy (OMIM 605021), epilepsy with deafness, or DOORS syndrome (OMIM 220500) that is characterized by deafness, onychodystrophy (alteration of toenail or fingernail morphology), osteodystrophy (defective development of bone), mental retardation, and seizures. 27259978 2017
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 GeneticVariation disease CLINVAR Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 28292732 2017
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 GeneticVariation disease BEFREE Sanger sequencing was negative for the DOORS syndrome gene TBC1D24 but exome sequencing identified a homozygous deletion in UBE3B (NM_183415:c.3139_3141del, p.1047_1047del) located within the terminal portion of the HECT domain. 28003643 2017
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 GeneticVariation disease CLINVAR TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. 28428906 2017
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 GeneticVariation disease BEFREE Mutations in TBC1D24 cause severe epilepsy and DOORS syndrome, but the molecular mechanisms underlying these pathologies are unresolved. 27669036 2016
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 GeneticVariation disease BEFREE More recently, TBC1D24 mutations have been shown to cause a variable range of disorders, including epilepsy of various seizure types and severity, non-syndromic deafness, and DOORS syndrome. 25769375 2015
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 GeneticVariation disease CLINVAR Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. 25769375 2015
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 Biomarker disease BEFREE More information is needed to understand the cellular roles of TBC1D24 and identify the genes responsible for DOORS phenotypes in individuals who do not have a mutation in TBC1D24. 24291220 2014
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 GeneticVariation disease BEFREE Mutations in TBC1D24 have been linked to a variety of epileptic syndromes and recently to syndromic hearing impairment DOORS syndrome and nonsyndromic hearing impairment DFNB86. 24729547 2014
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 GeneticVariation disease BEFREE Mutations in another BAF complex gene (SMARCA2) and (TBC1D24) were found to cause clinically similar conditions with ID, Nicolaides-Baraitser syndrome and DOORS syndrome, respectively. 25169878 2014
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 GeneticVariation disease BEFREE Other variants in TBC1D24 have been associated with a panoply of clinical symptoms including autosomal recessive NSHL, syndromic hearing impairment associated with onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS syndrome), and a wide range of epileptic disorders. 24729539 2014
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 CausalMutation disease CLINVAR More information is needed to understand the cellular roles of TBC1D24 and identify the genes responsible for DOORS phenotypes in individuals who do not have a mutation in TBC1D24. 24291220 2014
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND More information is needed to understand the cellular roles of TBC1D24 and identify the genes responsible for DOORS phenotypes in individuals who do not have a mutation in TBC1D24. 24291220 2014
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 CausalMutation disease CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 GeneticVariation disease UNIPROT More information is needed to understand the cellular roles of TBC1D24 and identify the genes responsible for DOORS phenotypes in individuals who do not have a mutation in TBC1D24. 24291220 2014
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. 20727515 2010