Ataxia and cerebellar anomalies - narrow panel
Gene: CSTBEnsemblGeneIds (GRCh38): ENSG00000160213
EnsemblGeneIds (GRCh37): ENSG00000160213
OMIM: 601145, Gene2Phenotype
CSTB is in 15 panels
3 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Sarah Leigh (Genomics England Curator)
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least five variants reported in at least four unrelated cases. Some cases are compound heterozygous with STR: CSTB_CCCCGCCCCGCGCreated: 13 Apr 2021, 3:07 p.m. | Last Modified: 13 Apr 2021, 3:07 p.m.
Panel Version: 2.87
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 13 Apr 2021, 2:12 p.m. | Last Modified: 13 Apr 2021, 2:12 p.m.
Panel Version: 2.85
Zornitza Stark (Australian Genomics)
Does the Red rating relate to the common dodecamer repeat? If so, please note missense variants have also been reported, most commonly compound het with the repeat, except for p.Gly4Arg which has been reported in the homozygous state also.Created: 12 Sep 2020, 2:59 a.m. | Last Modified: 12 Sep 2020, 2:59 a.m.
Panel Version: 2.12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800
- Unverricht-Lundborg syndrome MONDO:0009698
- Tags
- OMIM
- 601145
- Clinvar variants
- Variants in CSTB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- 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
- Paroxysmal central nervous system disorders
- Fetal anomalies
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating was removed from gene: CSTB.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to CSTB. Source NHS GMS was added to CSTB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag nucleotide-repeat-expansion tag was added to gene: CSTB.
Set Phenotypes
Sarah Leigh (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; Unverricht-Lundborg syndrome MONDO:0009698
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: CSTB were set to
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: cstb has been classified as Amber List (Moderate Evidence).
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_rating tag was added to gene: CSTB.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Comment on list classification
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CSTB was added gene: CSTB was added to Ataxia and cerebellar anomalies - narrow panel. Sources: 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