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TBC1D24 - TBC1 domain family member 24
- Synonym(s) : DFNA65, KIAA1171, skywalker homolog (Drosophila), TBC/LysM-associated domain containing 6, TLDC6
- Previous symbols and names : DFNB86, TBC1 domain family, member 24, deafness, autosomal recessive 86
- Type : gene with protein product
- Chromosomal location : 16p13.3
- OMIM: 613577
- HGNC: 29203
- UniProtKB: Q9ULP9
- Genatlas: TBC1D24
- GenCC: TBC1D24
- Ensembl: ENSG00000162065
- IUPHAR-DB: -
- Reactome: Q9ULP9
- LOVD: TBC1D24
Diseases list
- Disease-causing germline mutation(s) in DOORS syndrome
ORPHA:79500 
- Disease-causing germline mutation(s) in Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
ORPHA:352587 - Disease-causing germline mutation(s) in Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ORPHA:90635 - Disease-causing germline mutation(s) in Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ORPHA:90636 - Disease-causing germline mutation(s) in Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
ORPHA:163727 - Disease-causing germline mutation(s) (loss of function) in Familial infantile myoclonic epilepsy
ORPHA:352582 - Disease-causing germline mutation(s) (loss of function) in Malignant migrating focal seizures of infancy
ORPHA:293181 - Disease-causing germline mutation(s) (loss of function) in Progressive myoclonic epilepsy with dystonia
ORPHA:352596
: AssessedAdditional information
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