Progressive Myoclonic Epilepsy
Gene: TBC1D24
TBC1D24 (TBC1 domain family member 24)
EnsemblGeneIds (GRCh38): ENSG00000162065
EnsemblGeneIds (GRCh37): ENSG00000162065
OMIM: 613577, Gene2Phenotype
TBC1D24 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000162065
EnsemblGeneIds (GRCh37): ENSG00000162065
OMIM: 613577, Gene2Phenotype
TBC1D24 is in 14 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- Epileptic encephalopathy, early infantile, 16 615338
- DOORS syndrome 220500
- Myoclonic epilepsy, infantile, familial 605021
- OMIM
- 613577
- Clinvar variants
- Variants in TBC1D24
- Penetrance
- None
- Panels with this gene
-
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Paroxysmal Dyskinesia
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- Progressive Myoclonic Epilepsy
- Deafness_Isolated
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
History Filter Activity
9 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TBC1D24 was added gene: TBC1D24 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBC1D24 were set to Epileptic encephalopathy, early infantile, 16 615338; DOORS syndrome 220500; Myoclonic epilepsy, infantile, familial 605021