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  3. CSTB_CCCCGCCCCGCG
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Childhood onset dystonia, chorea or related movement disorder

STR: CSTB_CCCCGCCCCGCG

Green List (high evidence)
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

Sarah Leigh (Genomics England Curator)

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: 1.217
Created: 15 Mar 2022, 12:57 p.m.
Last Modified: 15 Mar 2022, 12:57 p.m.
Panel version: 1.217

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

New STR submitted and discussed with GLHs for the GMS Neurology Specialist Test Group, who agreed that there is sufficient evidence to rate this STR Green on this panel.
Sources: Expert list
Created: 1 Oct 2020, 1:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 1 Oct 2020, 1:17 p.m.

Panel version: 1.56

Details

Name
CSTB_CCCCGCCCCGCG
Chromosome
21
GRCh37 Coordinates
45196328-45196351
GRCh38 Coordinates
43776429-43776470
Repeated Sequence
CCCCGCCCCGCG
Normal Number of Repeats: <
18
Pathogenic Number of Repeats: = or >
30
Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • 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

10 Mar 2022, Gel status: 3

Changed Normal Number of Repeats, Added New Source

Arina Puzriakova (Genomics England Curator)

Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18. Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.

9 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

1 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

1 Oct 2020, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

STR: CSTB_CCCCGCCCCGCG was added STR: CSTB_CCCCGCCCCGCG was added to Childhood onset dystonia or chorea or related movement disorder. 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