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  2. Paroxysmal central nervous system disorders
  3. CSTB

Paroxysmal central nervous system disorders

Gene: CSTB

Red List (low evidence)
CSTB (cystatin B)
EnsemblGeneIds (GRCh38): ENSG00000160213
EnsemblGeneIds (GRCh37): ENSG00000160213
OMIM: 601145, Gene2Phenotype
CSTB is in 15 panels

4 reviews

Robyn Labrum (UCLH NHS Trust)

Red List (low evidence)

An STR locus, are these to be included.
Created: 23 Sep 2019, 3:56 p.m. | Last Modified: 23 Sep 2019, 3:56 p.m.
Panel Version: 0.97
Created: 23 Sep 2019, 3:56 p.m.
Last Modified: 23 Sep 2019, 3:56 p.m.
Panel version: 0.97

Penny Clouston (Oxford)

Red List (low evidence)

Created: 23 Sep 2019, 12:51 p.m.
Last Modified: 23 Sep 2019, 12:51 p.m.
Panel version: 0.95

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Kept rating of CSTB as Red following Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Created: 23 Sep 2019, 4:04 p.m. | Last Modified: 23 Sep 2019, 4:04 p.m.
Panel Version: 0.99
Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Red.
Created: 23 Sep 2019, 3:57 p.m. | Last Modified: 23 Sep 2019, 3:57 p.m.
Panel Version: 0.98
Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. This rating is for a gene (CSTB) previously added to the panel by London North GLH. Suggested rating: Red.
Created: 23 Sep 2019, 12:53 p.m. | Last Modified: 23 Sep 2019, 12:53 p.m.
Panel Version: 0.96
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Created: 2 Sep 2019, 2:39 p.m.
Last Modified: 2 Sep 2019, 2:39 p.m.
Panel version: 0.98

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Created: 2 Sep 2019, 2:37 p.m.
Last Modified: 2 Sep 2019, 2:37 p.m.
Panel version: 0.25

History Filter Activity

9 Nov 2021, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag nucleotide-repeat-expansion tag was added to gene: CSTB.

9 Nov 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: CSTB was changed from to BIALLELIC, autosomal or pseudoautosomal

9 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CSTB were changed from to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800

24 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: cstb has been classified as Red List (Low Evidence).

23 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: cstb has been classified as Red List (Low Evidence).

2 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CSTB.

2 Sep 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Rebecca Foulger (Genomics England curator)

gene: CSTB was added gene: CSTB was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red,London North GLH Mode of inheritance for gene: CSTB was set to