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Genetic epilepsy syndromes

Gene: CSTB

Green List (high evidence)

CSTB (cystatin B)
EnsemblGeneIds (GRCh38): ENSG00000160213
EnsemblGeneIds (GRCh37): ENSG00000160213
OMIM: 601145, Gene2Phenotype
CSTB is in 16 panels

9 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Previously called EPM1. AR progressive myoclonic epilepsy 1A (Unverricht and Lundborg) (EPM1A). Onset of neurodegneration between 6 and 13. Although it is considered a progressive myoclonic epilepsy - it differs as it only appears to be progressive in adolescence and stabilises in early adulthood. Lalioti et al, 1997 - 6 nucleotide changes in the CSTB gene in Non-Finnish EPM1 families - molecular modelling of G4R -predict to affect contact of cystatin B with papain. The 6 mutations werre found in 7/29 unrelated cases -hom in 1, compound het in the rest. Lalioti et al, 1997 - expansions of a 12 mer repeat 70 nt upstream of the transription start site. Normal alleles have 203 copies, whereas mutant alleles contain more than 60 such repeats. See premutation alleles which show marked instability.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Changing rating to green in agreement with reviews
Created: 18 Oct 2018, 9:28 a.m.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 6 variants reported in numerous families, including a dodecamer (CCCCGCCCCGCG) repeat expansion in the 5-prime untranslated region CSTB.
Created: 1 Oct 2018, 12:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple patients reported with bi-allelic variants in this gene. Some variants are missense, but there is a common 12bp expansion allele -- detectable by WGS?
Created: 12 Aug 2018, 6:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

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

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Alice Gardham (Genomics England)

Comment on mode of pathogenicity: Nucleotide repeat expansion in some cases. Tagged 5.12.16 by Alice Gardham
Created: 5 Dec 2016, 2:09 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800
Tags
nucleotide-repeat-expansion
OMIM
601145
Clinvar variants
Variants in CSTB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: CSTB were set to

28 Nov 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: CSTB were changed from to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to CSTB.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CSTB.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Alice Gardham: Comment on mode of pathogenici

18 Oct 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cstb has been classified as Green List (High Evidence).

16 Oct 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: CSTB was changed from to BIALLELIC, autosomal or pseudoautosomal

1 Oct 2018, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag nucleotide-repeat-expansion tag was added to gene: CSTB.

26 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to CSTB. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to CSTB. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to CSTB. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CSTB was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CSTB was created by Sarah Leigh