Dystonia - childhood onset
Gene: CSTBEnsemblGeneIds (GRCh38): ENSG00000160213
EnsemblGeneIds (GRCh37): ENSG00000160213
OMIM: 601145, Gene2Phenotype
CSTB is in 15 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800
- Unverricht-Lundborg syndrome MONDO:0009698
- OMIM
- 601145
- Clinvar variants
- Variants in CSTB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Ataxia and cerebellar anomalies - narrow panel
- Paroxysmal central nervous system disorders
- Fetal anomalies
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Brain channelopathy
- Hereditary ataxia
- DDG2P
- Early onset or syndromic epilepsy
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: CSTB were changed from microcephaly and severe dyskinesia (26843564); Epilepsy, progressive myoclonic 1A, 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800; Unverricht-Lundborg syndrome MONDO:0009698
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: CSTB was added gene: CSTB was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSTB were set to 26843564 Phenotypes for gene: CSTB were set to microcephaly and severe dyskinesia (26843564); Epilepsy, progressive myoclonic 1A, 254800