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Intellectual disability

STR: CSTB_CCCCGCCCCGCG

No list

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

Louise Daugherty (Genomics England Curator)

Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Created: 5 Dec 2018, 6:35 p.m.

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

The normal Number of Repeats was changed from 3 to 30.
Created: 6 Jun 2018, 1:41 p.m.
Comments from Arianna Tucci: Finnish patients are homozygous. Compound heterozygous variants in the non -finnish patients; a dodecamer repeat expansion on one allele and a single nucleotide variant or indel variant on the other allele, but presents with earlier age of onset, more severe myoclonus, and seizures that may be drug-resistant.
Created: 31 May 2018, 3:38 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Variants in this STR are reported as part of current diagnostic practice

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
  • 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

20 Dec 2018, Gel status: 0

Changed GRCh38

Louise Daugherty (Genomics England Curator)

GRCh38 position for CSTB_CCCCGCCCCGCG was changed from 43776447-43776470 to 43776429-43776470.

5 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: cstb_ccccgccccgcg has been removed from the panel.

6 Jun 2018, Gel status: 1

Changed Normal Number of Repeats

Ellen McDonagh (Genomics England Curator)

Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 3 to 30. Panel: Intellectual disability

31 May 2018, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

STR was added to STR: CSTB_CCCCGCCCCGCG. Panel: Intellectual disability

31 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STR: CSTB_CCCCGCCCCGCG was added to Intellectual disability panel. Sources: Expert list

31 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

STR: CSTB_CCCCGCCCCGCG was created by Ellen McDonagh