Progressive Myoclonic Epilepsy
Gene: CSTBEnsemblGeneIds (GRCh38): ENSG00000160213
EnsemblGeneIds (GRCh37): ENSG00000160213
OMIM: 601145, Gene2Phenotype
CSTB is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
- OMIM
- 601145
- Clinvar variants
- Variants in CSTB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Progressive Myoclonic Epilepsy
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Ataxia - adult onset
- Mendeliome
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Epidermolysis bullosa
- Ataxia - paediatric
- Genetic Epilepsy
- Repeat Disorders
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cstb has been classified as Green List (High Evidence).
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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CSTB were set to
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.
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