This Panel is marked as Retired
Epilepsy Plus
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
1 review
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
- Sources
-
- Expert
- Expert Review Red
- Tags
- OMIM
- 601145
- Clinvar variants
- Variants in CSTB
- Penetrance
- Complete
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Paroxysmal central nervous system disorders
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Intellectual disability
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Brain channelopathy
- Hereditary ataxia
- Fetal anomalies
- DDG2P
History Filter Activity
5 Dec 2016, Gel status: 1
Set mode of pathogenicity
Alice Gardham (Genomics England)Mode of pathogenicity for CSTB was changed to Other - please provide details in the comments
8 Sep 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CSTB was added to Epilepsy Pluspanel. Sources: Expert,Expert Review Red
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CSTB was created by ellenmcdonagh