Hereditary ataxia with onset in adulthood
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

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: 2.147

Created: 15 Mar 2022, 12:57 p.m.
Last Modified: 15 Mar 2022, 12:57 p.m.
Panel version: 2.147

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: 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: 1 Aug 2019, 1:51 p.m. | Last Modified: 1 Aug 2019, 1:51 p.m.

Panel Version: 1.186

Source PanelApp panels : Hereditary ataxia v1.148;Brain channelopathy v1.46
Sources: Expert list
Created: 21 Dec 2018, 1 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 21 Dec 2018, 1 p.m.

Panel version: 0.22

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

10 Mar 2022, Gel status: 3

Changed Normal Number of Repeats

Arina Puzriakova (Genomics England Curator)

Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.

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 Aug 2019, Gel status: 3