Early onset dystonia
Gene: CSTBEnsemblGeneIds (GRCh38): ENSG00000160213
EnsemblGeneIds (GRCh37): ENSG00000160213
OMIM: 601145, Gene2Phenotype
CSTB is in 15 panels
2 reviews
Arianna Tucci (Genomics England Curator)
Biallelic mutations can cause an early onset neurodegenerative disorder characterized by myoclonus, epilepsy, ataxia which could be in differential with some dystonia genes. Also severe dyskinesia has been described (26843564). 90% of the pathogenic alleles consist of a 12bp repeat expansion, but missense mutations have also been described, normally would be compound heterozygous with the repeat expansionCreated: 27 Mar 2017, 10:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 1A, 254800; microcephaly and severe dyskinesia (26843564)
Publications
Alice Gardham (Genomics England)
Comment on mode of pathogenicity: Nucleotide repeat expansion in some cases. Tagged 5.12.16 by Alice GardhamCreated: 5 Dec 2016, 2:05 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
- Tags
- OMIM
- 601145
- Clinvar variants
- Variants in CSTB
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Paroxysmal central nervous system disorders
- Adult onset neurodegenerative disorder
- Early onset dystonia
- Brain channelopathy
- Likely inborn error of metabolism
- Fetal anomalies
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CSTB were changed from Epilepsy, progressive myoclonic 1A, 254800; microcephaly and severe dyskinesia (26843564) to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
Added Tag
Arina Puzriakova (Genomics England Curator)Tag nucleotide-repeat-expansion tag was added to gene: CSTB.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Arianna Tucci (Genomics England Curator)CSTB was created by arianna
Added New Source
Arianna Tucci (Genomics England Curator)CSTB was added to Early onset dystoniapanel. Sources: Expert Review