Hereditary ataxia
Gene: CSTB
CSTB (cystatin B)
EnsemblGeneIds (GRCh38): ENSG00000160213
EnsemblGeneIds (GRCh37): ENSG00000160213
OMIM: 601145, Gene2Phenotype
CSTB is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000160213
EnsemblGeneIds (GRCh37): ENSG00000160213
OMIM: 601145, Gene2Phenotype
CSTB is in 15 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Upgraded from Red to Green as ataxia is a common part of the phenotype. This also reflects the current rating on GMS ataxia panels.Created: 9 Nov 2021, 3:03 p.m. | Last Modified: 9 Nov 2021, 3:03 p.m.
Panel Version: 1.265
Arianna Tucci (Genomics England Curator)
The disease is caused by both single nucleotide changes/small indels and expansion of the dodecamer CCCCGCCCCGCG in the 5-prime untranslated region of the cystatin B geneCreated: 23 Mar 2017, 4:35 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800
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
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Fetal anomalies
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Brain channelopathy
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
9 Nov 2021, Gel status: 3
Added Tag
Arina Puzriakova (Genomics England Curator)Tag nucleotide-repeat-expansion tag was added to gene: CSTB.
9 Nov 2021, Gel status: 3
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: cstb has been classified as Green List (High Evidence).
9 Nov 2021, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CSTB were changed from Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
23 Mar 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)CSTB was added to Hereditary ataxiapanel. Sources: Expert Review
23 Mar 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)CSTB was created by arianna