TBC1D24 Chromosome 16
TBC1 domain family member 24
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What This Gene Does
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. [provided by RefSeq, Feb 2011]
Gene Info
Gene Group
TLDc domain containing
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000162065
Associated Conditions (41)
Parkinsonian disorder
Developmental and epileptic encephalopathy
16
Autosomal dominant nonsyndromic hearing loss 65
1
Autosomal dominant epilepsy
Caused by mutation in the TBC1 domain family
member 24
DOORS syndrome
Inborn genetic diseases
Familial infantile myoclonic epilepsy
Autosomal recessive nonsyndromic hearing loss 86
TBC1D24-related disorder
Sarcoma
Uterine carcinosarcoma
Nonpapillary renal cell carcinoma
Self-limited epilepsy with centrotemporal spikes
6 conditions
Familial cancer of breast
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
+21 more conditions
Key Variants
RS1057519629
Conflicting classifications of pathogenicity
Parkinsonian disorder, Developmental and epileptic encephalopathy, 16
Health Risk
RS1057519630
Conflicting classifications of pathogenicity
Parkinsonian disorder, Autosomal dominant epilepsy, Developmental and epileptic encephalopathy
Health Risk
RS1060502501
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
Health Risk
RS1131691552
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
Health Risk
RS1243475474
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1
Health Risk
RS1314368308
Conflicting classifications of pathogenicity
Familial infantile myoclonic epilepsy, Familial infantile myoclonic epilepsy
Health Risk
RS1364280797
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
Health Risk
RS141399869
Conflicting classifications of pathogenicity
DOORS syndrome, Developmental and epileptic encephalopathy, 16
Health Risk
RS1435411888
Conflicting classifications of pathogenicity
Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
Health Risk
RS1468286638
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
Health Risk
RS188739853
Conflicting classifications of pathogenicity
Familial infantile myoclonic epilepsy, Inborn genetic diseases, TBC1D24-related disorder
Health Risk
RS199852092
Conflicting classifications of pathogenicity
Familial infantile myoclonic epilepsy, Familial infantile myoclonic epilepsy
Health Risk
All Variants (159)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2505526757 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1 |
| RS2505527421 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1 |
| RS376712059 | Health Risk | Pathogenic/Likely pathogenic | Rare genetic deafness, DOORS syndrome, Developmental and epileptic encephalopathy |
| RS398122965 | Health Risk | Pathogenic/Likely pathogenic | DOORS syndrome, Developmental and epileptic encephalopathy, 16 |
| RS745800110 | Health Risk | Pathogenic/Likely pathogenic | TBC1D24-related disorder, Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy |
| RS747538224 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, developmental delay with seizures, DOORS syndrome |
| RS748302886 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 65, Inborn genetic diseases, Developmental and epileptic encephalopathy |
| RS755370981 | Health Risk | Pathogenic/Likely pathogenic | DOORS syndrome, Developmental and epileptic encephalopathy, 16 |
| RS760474458 | Health Risk | Pathogenic/Likely pathogenic | DOORS syndrome, Developmental and epileptic encephalopathy, 1 |