Hereditary ataxia with onset in adulthood
Gene: CSTBEnsemblGeneIds (GRCh38): ENSG00000160213
EnsemblGeneIds (GRCh37): ENSG00000160213
OMIM: 601145, Gene2Phenotype
CSTB is in 15 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Multiple reports in the literature, ataxia common part of phenotypeCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Progressive myoclonic epilepsy 1A, 254800
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Hereditary ataxia v1.148
- Phenotypes
-
- Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
- Tags
- OMIM
- 601145
- Clinvar variants
- Variants in CSTB
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Paroxysmal central nervous system disorders
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Intellectual disability
- Adult onset dystonia, chorea or related movement disorder
- Brain channelopathy
- Hereditary ataxia
- Fetal anomalies
- DDG2P
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag nucleotide-repeat-expansion tag was added to gene: CSTB.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CSTB were changed from Progressive myoclonic epilepsy 1A, 254800; Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: cstb has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GMS was added to CSTB.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Progressive myoclonic epilepsy 1A, 254800 for gene: CSTB
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CSTB.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to CSTB.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: Comment on phenotypes: Implica
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: CSTB was added gene: CSTB was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800