Adult onset neurodegenerative disorder
STR: CSTB_CCCCGCCCCGCG

Chromosome: 21
GRCh37 Position: 45196328-45196351
GRCh38 Position: 43776429-43776470
Repeated Sequence: CCCCGCCCCGCG
Normal Number of Repeats: < 18
Pathogenic Number of Repeats: = or > 30

CSTB (cystatin B)
EnsemblGeneIds (GRCh38): ENSG00000160213
EnsemblGeneIds (GRCh37): ENSG00000160213
OMIM: 601145, Gene2Phenotype
CSTB is in 0 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent GMS STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test Group
Created: 8 Oct 2020, 9:28 a.m. | Last Modified: 8 Oct 2020, 9:28 a.m.

Panel Version: 2.27

Created: 8 Oct 2020, 9:28 a.m.
Last Modified: 8 Oct 2020, 9:28 a.m.
Panel version: 2.27

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Red rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are NOT reported as part of the current diagnostic practice.
Created: 23 Jul 2019, 4:55 p.m. | Last Modified: 23 Jul 2019, 4:55 p.m.

Panel Version: 1.75

Source PanelApp panels : Brain channelopathy v1.48, Hereditary ataxia v1.150.
Sources: Expert list
Created: 21 Dec 2018, 9:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800

Created: 21 Dec 2018, 9:26 a.m.

Panel version: 1.75

Details

Name

CSTB_CCCCGCCCCGCG

Chromosome

GRCh37 Coordinates

45196328-45196351

GRCh38 Coordinates

43776429-43776470

Repeated Sequence

CCCCGCCCCGCG

Normal Number of Repeats: <

Pathogenic Number of Repeats: = or >

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Amber
Yorkshire and North East GLH
Expert list

Phenotypes

Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800

Tags

watchlist STR

OMIM

601145

Clinvar variants

Variants in CSTB

Penetrance

None

History Filter Activity

13 Jul 2023, Gel status: 2

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_23_promote_green was removed from STR: CSTB_CCCCGCCCCGCG.

29 Jun 2023, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_23_promote_green tag was added to STR: CSTB_CCCCGCCCCGCG.

8 Jun 2022, Gel status: 2

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag for-review was removed from STR: CSTB_CCCCGCCCCGCG.

10 Mar 2022, Gel status: 2