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Xp11.23 region (includes MAOA and MAOB) Loss
ISCA-37468-Loss 2

Adult onset dystonia, chorea or related movement 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

4 reviews

Eleanor Williams (Genomics England Curator)

The rating of this STR has been updated to green after review of STRs on panels that have moved to WGS in phase 2 and NHS Genomic Medicine Service approval.
Created: 31 Jul 2023, 1:48 p.m. | Last Modified: 31 Jul 2023, 1:48 p.m.

Panel Version: 3.11

Created: 31 Jul 2023, 1:48 p.m.
Last Modified: 31 Jul 2023, 1:48 p.m.
Panel version: 3.11

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

It is recommended this STR be promoted to Green following GMS review, as the testing method for this clinicial indication is now WGS.
Created: 29 Jun 2023, 4:36 p.m. | Last Modified: 29 Jun 2023, 4:36 p.m.

Panel Version: 3.4

STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 12:57 p.m. | Last Modified: 15 Mar 2022, 12:57 p.m.

Panel Version: 1.166

Created: 15 Mar 2022, 12:57 p.m.
Last Modified: 15 Mar 2022, 12:57 p.m.
Panel version: 3.4

Arina Puzriakova (Genomics England Curator)

Comment on list classification: This STR has been temporarily downgraded from Green to Amber, and will be repromoted when this clinical indication moves to WGS.
Created: 6 Oct 2020, 10:31 a.m. | Last Modified: 6 Oct 2020, 10:31 a.m.

Panel Version: 1.10

Created: 6 Oct 2020, 10:31 a.m.
Last Modified: 6 Oct 2020, 10:31 a.m.
Panel version: 1.10

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

STR missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Created: 5 Aug 2019, 3:24 p.m. | Last Modified: 5 Aug 2019, 3:24 p.m.

Panel Version: 0.94

Source PanelApp panels : Parkinson Disease and Complex Parkinsonism
Sources: Expert list
Created: 11 Jan 2019, 2:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 11 Jan 2019, 2:42 p.m.

Panel version: 0.94

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

Expert Review Green
NHS GMS
Expert list

Phenotypes

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

Tags

STR

OMIM

601145

Clinvar variants

Variants in CSTB

Penetrance

None

History Filter Activity

31 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).

31 Jul 2023, Gel status: 2

Removed Tag, Removed Tag

Eleanor Williams (Genomics England Curator)

Tag watchlist was removed from STR: CSTB_CCCCGCCCCGCG. 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