Ataxia - adult onset
STR: EPM1GRCh37 Position: 45196325-45196360
GRCh38 Position: 43776444-43776479
Repeated Sequence: CCCCGCCCCGCG
Normal Number of Repeats: < 3
Pathogenic Number of Repeats: = or > 30
CSTB (cystatin B)
EnsemblGeneIds (GRCh38): ENSG00000160213
EnsemblGeneIds (GRCh37): ENSG00000160213
OMIM: 601145, Gene2Phenotype
CSTB is in 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
NM_000100.4:c.-179CCCCGCCCCGCG[X]
Loss of function, other disease-associated variants can cause loss of function too. Ataxia age of onset usually occurs a couple of years after PME.
Normal: 2-3 dodecamer repeats
Uncertain significance: 12-17 dodecamer repeats (unstable, but not clinically characterized)
Pathogenic (full penetrance): ≥30 dodecamer repeats
Sources: LiteratureCreated: 27 Aug 2020, 7:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Details
- Name
- EPM1
- Chromosome
- 21
- GRCh37 Coordinates
- 45196325-45196360
- GRCh38 Coordinates
- 43776444-43776479
- Repeated Sequence
- CCCCGCCCCGCG
- Normal Number of Repeats: <
- 3
- Pathogenic Number of Repeats: = or >
- 30
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800
- Tags
- OMIM
- 601145
- Clinvar variants
- Variants in CSTB
- Penetrance
- None
- Publications
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: epm1 has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)STR: EPM1 was added STR: EPM1 was added to Ataxia - adult onset. Sources: Literature STR tags were added to STR: EPM1. Mode of inheritance for STR: EPM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: EPM1 were set to 29325606; 20301321 Phenotypes for STR: EPM1 were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800 Review for STR: EPM1 was set to GREEN STR: EPM1 was marked as clinically relevant