Childhood onset dystonia, chorea or related movement disorder
Gene: TBC1D24
Comment on list classification: There are five unrelated cases reported with dystonia as a feature of the overall phenotype. Hence, this gene can be promoted to green rating at the next major update.Created: 9 Aug 2023, 8:48 p.m. | Last Modified: 9 Aug 2023, 8:48 p.m.
Panel Version: 3.33
Five children from a large consanguineous kindred of Turkish descent were reported with severe early-onset epileptic encephalopathy, where patients had severely impaired neurologic development and neurologic deterioration with permanent neurologic sequelae, including severe hypotonia, hemiparesis with pyramidal signs, and dystonia (PMID:21087195). A homozygous truncating variant was identified in the TBC1D24 gene in these patients (PMID:23343562).
Three individuals from a family of Italian descent were reported with a syndrome with onset in infancy and comprising rolandic epilepsy, paroxysmal exercise-induced dystonia, and writer's cramp. In addition, three unrelated sporadic patients were reported with a phenotype similar to the original rolandic epilepsy - exercise-induced dystonia (RE-EID) observed in the Italian family. All these patients were identified with compound heterozygous variants in TBC1D24 (PMID:31257402).
Autosomal recessive variants in this gene has been associated with RE-EID (MIM #608105) and DEE16 (MIM #615338) among other phenotypes in OMIM and these two syndromes include dystonia as one of the clinical manifestations.Created: 9 Aug 2023, 8:44 p.m. | Last Modified: 9 Aug 2023, 8:44 p.m.
Panel Version: 3.30
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp, OMIM:608105; Developmental and epileptic encephalopathy 16, OMIM:615338
Publications
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.
Sources: Expert listCreated: 10 Sep 2020, 8:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, MIM# 608105
Publications
Gene: tbc1d24 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TBC1D24 were changed from Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, MIM# 608105 to Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp, OMIM:608105; Developmental and epileptic encephalopathy 16, OMIM:615338
Publications for gene: TBC1D24 were set to 31257402
Tag Q3_23_promote_green tag was added to gene: TBC1D24.
gene: TBC1D24 was added gene: TBC1D24 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D24 were set to 31257402 Phenotypes for gene: TBC1D24 were set to Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, MIM# 608105 Review for gene: TBC1D24 was set to GREEN