Paroxysmal central nervous system disorders

STR: CSTB_CCCCGCCCCGCG

Red List (low 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

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Comment on list classification: Demoted STR from Green to Red based on GLH review and a recent comment (September 30th 2019) from Robyn Labrum (University College London Hospitals) collated on behalf of London North GLH for the GMS Neurology specialist test group: Inappropriate phenotype. Better suited to ataxia panels, epilepsy or muscular dystrophy panel.
Created: 1 Oct 2019, 12:32 p.m. | Last Modified: 1 Oct 2019, 12:32 p.m.
Panel Version: 0.164
Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group for clinical indication R66: Paroxysmal central nervous system disorders. Symbol submitted: CSTB_CCCCGCCCCGCG. Suggested rating: ?; Comments provided: STR.
Created: 1 Oct 2019, 10:29 a.m. | Last Modified: 1 Oct 2019, 10:29 a.m.
Panel Version: 0.157
Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of entities was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Symbol submitted: CSTB_CCCCGCCCCGCG. Suggested rating: Red; Comments provided: None.
Created: 23 Sep 2019, 10:26 a.m. | Last Modified: 23 Sep 2019, 10:26 a.m.
Panel Version: 0.94

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Created: 11 Jan 2019, 4:59 p.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
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Tags
STR
OMIM
601145
Clinvar variants
Variants in CSTB
Penetrance
None

History Filter Activity

1 Oct 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Str: cstb_ccccgccccgcg has been classified as Red List (Low Evidence).

11 Jan 2019, 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).

11 Jan 2019, 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 Paroxysmal neurological disorders, pain disorders and sleep disorders. 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