Progressive Myoclonic Epilepsy

Gene: CSTB

Green List (high evidence)

CSTB (cystatin B)
EnsemblGeneIds (GRCh38): ENSG00000160213
EnsemblGeneIds (GRCh37): ENSG00000160213
OMIM: 601145, Gene2Phenotype
CSTB is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. It is typically progressive in adolescence, with dramatic worsening of myoclonus and ataxia in the first 6 years after onset. The disease stabilises in early adulthood, and myoclonus and ataxia may even improve, and there is minimal to no cognitive decline. Note the most common causative allele is a dodecamer repeat in the promoter region. Missense variants have been reported, most commonly compound het with the repeat, except for p.Gly4Arg which has been reported in the homozygous state also.
Created: 12 Sep 2020, 3:04 a.m. | Last Modified: 12 Sep 2020, 3:04 a.m.
Panel Version: 0.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800
Tags
5'UTR STR
OMIM
601145
Clinvar variants
Variants in CSTB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CSTB were changed from Unverricht-Lundborg syndrome; Epilepsy, progressive myoclonic type 1 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800

12 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CSTB were set to

12 Sep 2020, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag 5'UTR tag was added to gene: CSTB. Tag STR tag was added to gene: CSTB.

9 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: CSTB was added gene: CSTB was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSTB were set to Unverricht-Lundborg syndrome; Epilepsy, progressive myoclonic type 1