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  3. CSTB_CCCCGCCCCGCG
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Ataxia and cerebellar anomalies - narrow panel

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, 12:56 p.m. | Last Modified: 15 Mar 2022, 12:56 p.m.
Panel Version: 2.288
Some cases are compound heterozygous with other CSTB variants (PMID: 8596935;15483648;9012407;9054946;9090386;11571333;9342192;15329070)
Created: 13 Apr 2021, 3:09 p.m. | Last Modified: 13 Apr 2021, 3:09 p.m.
Panel Version: 2.87
Created: 13 Apr 2021, 3:09 p.m.
Last Modified: 13 Apr 2021, 3:09 p.m.
Panel version: 2.288

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert list
Created: 21 Dec 2018, 4:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 21 Dec 2018, 4:29 p.m.

Panel version: 0.24

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
  • Unverricht-Lundborg syndrome MONDO:0009698
Tags
STR
OMIM
601145
Clinvar variants
Variants in CSTB
Penetrance
None
Publications

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.

13 Apr 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (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; Unverricht-Lundborg syndrome MONDO:0009698

13 Apr 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for STR: CSTB_CCCCGCCCCGCG were set to

9 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Source PanelApp panels : Hered

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 Ataxia and cerebellar anomalies - narrow panel. 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