Paroxysmal Dyskinesia
Gene: TBC1D24EnsemblGeneIds (GRCh38): ENSG00000162065
EnsemblGeneIds (GRCh37): ENSG00000162065
OMIM: 613577, Gene2Phenotype
TBC1D24 is in 14 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three unrelated families reported with rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC), an autosomal recessive neurologic disorder characterised by onset of focal seizures in infancy and exercise-induced dystonia in childhood. Features usually include involuntary movements, including facial movements, and difficulties with fine motor skills of the hand. Seizures often respond to medication and remit with age; the dystonia tends to persist. Three unrelated families reported with this specific phenotype, though variants in this gene are associated with a range of other neurological disorders and may represent a spectrum of severity.Created: 10 Sep 2020, 4:39 a.m. | Last Modified: 10 Sep 2020, 4:39 a.m.
Panel Version: 0.56
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, MIM# 608105
Publications
Eunice Chan (Royal Children's Hospital)
Main phenotype with epilepsy and seizures.
Other phenotypes include paroxysmal exercise induced dyskinesia, episodic dystonia, DOORS, non-syndromic hearing loss, myoclonus
Sources: Expert listCreated: 9 Sep 2020, 3:52 a.m.
Mode of inheritance
Unknown
Phenotypes
Episodic dystonia (Exercise induced or without clear trigger); epilepsy; myoclonus; hearing loss
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, MIM# 608105
- Episodic dystonia (Exercise induced or without clear trigger)
- epilepsy
- myoclonus
- hearing loss
- OMIM
- 613577
- Clinvar variants
- Variants in TBC1D24
- Penetrance
- None
- Publications
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tbc1d24 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TBC1D24 were changed from Episodic dystonia (Exercise induced or without clear trigger); epilepsy; myoclonus; hearing loss to Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, MIM# 608105; Episodic dystonia (Exercise induced or without clear trigger); epilepsy; myoclonus; hearing loss
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TBC1D24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tbc1d24 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eunice Chan (Royal Children's Hospital)gene: TBC1D24 was added gene: TBC1D24 was added to Paroxysmal Dyskinesia. Sources: Expert list Mode of inheritance for gene: TBC1D24 was set to Unknown Publications for gene: TBC1D24 were set to PMID 31257402; PMID 31226716; PMID 25719194 Phenotypes for gene: TBC1D24 were set to Episodic dystonia (Exercise induced or without clear trigger); epilepsy; myoclonus; hearing loss