TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
Disease: Movement Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796053403
rs796053403
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 28292732 2017
dbSNP: rs796053403
rs796053403
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability. 28663785 2017
dbSNP: rs796053403
rs796053403
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. 28428906 2017
dbSNP: rs796053403
rs796053403
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. 27281533 2016
dbSNP: rs796053403
rs796053403
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. 27541164 2016
dbSNP: rs796053403
rs796053403
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. 25769375 2015
dbSNP: rs796053403
rs796053403
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement. 26207815 2015
dbSNP: rs796053403
rs796053403
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway. 24469796 2014
dbSNP: rs796053403
rs796053403
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
dbSNP: rs796053403
rs796053403
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. 24387994 2014
dbSNP: rs796053403
rs796053403
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014