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Neurodegenerative disorders - adult onset

STR: CSTB_CCCCGCCCCGCG

Amber List (moderate evidence)

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

CSTB (cystatin B)
EnsemblGeneIds (GRCh38): ENSG00000160213
EnsemblGeneIds (GRCh37): ENSG00000160213
OMIM: 601145, Gene2Phenotype
CSTB is in 16 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

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

Details

Name
CSTB_CCCCGCCCCGCG
Chromosome
21
GRCh37 Coordinates
45196328-45196351
GRCh38 Coordinates
43776429-43776470
Repeated Sequence
CCCCGCCCCGCG
Normal Number of Repeats: < or =
30
Pathogenic Number of Repeats: = or >
30
Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • Expert list
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Tags
STR for-review
OMIM
601145
Clinvar variants
Variants in CSTB
Penetrance
None

History Filter Activity

8 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Str: cstb_ccccgccccgcg has been classified as Amber List (Moderate Evidence).

8 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to STR: CSTB_CCCCGCCCCGCG.

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to STR: CSTB_CCCCGCCCCGCG.

25 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Source PanelApp panels : Brain

21 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

21 Dec 2018, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

STR: CSTB_CCCCGCCCCGCG was added STR: CSTB_CCCCGCCCCGCG was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: CSTB_CCCCGCCCCGCG. Mode of inheritance for STR: CSTB_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for STR: CSTB_CCCCGCCCCGCG were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 Review for STR: CSTB_CCCCGCCCCGCG was set to GREEN