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Adult onset 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: < 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

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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: 5 Aug 2019, 3:24 p.m. | Last Modified: 5 Aug 2019, 3:24 p.m.
Panel Version: 0.94
Source PanelApp panels : Parkinson Disease and Complex Parkinsonism
Sources: Expert list
Created: 11 Jan 2019, 2:42 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
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Tags
STR
OMIM
601145
Clinvar variants
Variants in CSTB
Penetrance
None

History Filter Activity

5 Aug 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.

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

Changed Chromosome

Louise Daugherty (Genomics England Curator)

Chromosome for CSTB_CCCCGCCCCGCG was changed from 12 to 21. Panel: Adult onset movement disorder

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 Adult onset 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