TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.180 GeneticVariation phenotype 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: C0036572
Disease: Seizures
Seizures 		0.180 GeneticVariation phenotype 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: C0036572
Disease: Seizures
Seizures 		0.180 GeneticVariation phenotype 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: C0036572
Disease: Seizures
Seizures 		0.180 GeneticVariation phenotype 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: C0036572
Disease: Seizures
Seizures 		0.180 Biomarker phenotype BEFREE TBC1D24-related disorders include a wide phenotypic ranging from mild to lethal seizure disorders, non-syndromic deafness, and composite syndromes such as DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures). 27541164 2016
CUI: C0036572
Disease: Seizures
Seizures 		0.180 Biomarker phenotype BEFREE TBC1D24-related epilepsy syndromes show marked phenotypic pleiotropy, with multisystem involvement and severity spectrum ranging from isolated deafness (not studied here), benign myoclonic epilepsy restricted to childhood with complete seizure control and normal intellect, to early-onset epileptic encephalopathy with severe developmental delay and early death. 27281533 2016
CUI: C0036572
Disease: Seizures
Seizures 		0.180 GeneticVariation phenotype BEFREE Thus, individuals with DOORS syndrome without deafness and seizures but with the other features should still be screened for TBC1D24 mutations. 24291220 2014
CUI: C0036572
Disease: Seizures
Seizures 		0.180 CausalMutation phenotype CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
CUI: C0036572
Disease: Seizures
Seizures 		0.180 CausalMutation phenotype CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
CUI: C0036572
Disease: Seizures
Seizures 		0.180 GeneticVariation phenotype 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: C0036572
Disease: Seizures
Seizures 		0.180 Biomarker phenotype HPO