Repeat Disorders
STR: SCA8GRCh37 Position: 70713486-70713560
GRCh38 Position: 70139354-70139428
Repeated Sequence: CTG
Normal Number of Repeats: < 50
Pathogenic Number of Repeats: = or > 80
ATXN8OS (ATXN8 opposite strand (non-protein coding))
EnsemblGeneIds (GRCh38): ENSG00000230223
EnsemblGeneIds (GRCh37): ENSG00000230223
OMIM: 603680, Gene2Phenotype
ATXN8OS is in 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
NR_002717.2:n.1073CTA[X]1103CTG[X]
ATXN8 (CAG)n(TAG)n vs ATXN8OS on opposite strand (CTA)n(CTG)n
Both toxic RNA and toxic protein gain of function mechanisms likely contribute to disease mechanism
Normal alleles: 15-50 combined (CTA·TAG)n(CTG·CAG)n repeats
Alleles of questionable significance: 50-70 repeats.
Reduced penetrance allele size: found for (CTA·TAG)n(CTG·CAG)n repeats of all sizes
Higher penetrance allele size: ≥80 (CTA·TAG)n(CTG·CAG)n repeats most often seen in individuals with ataxia; however, repeat sizes ranging from 71 to more than 1300 repeats have been found both in individuals who develop ataxia and in those who do not.
Sources: Expert listCreated: 16 Aug 2021, 12:30 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 8 MIM#608768
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Details
- Name
- SCA8
- Chromosome
- 13
- GRCh37 Coordinates
- 70713486-70713560
- GRCh38 Coordinates
- 70139354-70139428
- Repeated Sequence
- CTG
- Normal Number of Repeats: <
- 50
- Pathogenic Number of Repeats: = or >
- 80
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Spinocerebellar ataxia 8 MIM#608768
- Tags
- OMIM
- 603680
- Clinvar variants
- Variants in ATXN8OS
- Penetrance
- None
- Publications
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag adult-onset tag was added to STR: SCA8.
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for STR: SCA8 were set to 20301445
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: sca8 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: sca8 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)STR: SCA8 was added STR: SCA8 was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: SCA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: SCA8 were set to 20301445 Phenotypes for STR: SCA8 were set to Spinocerebellar ataxia 8 MIM#608768 Review for STR: SCA8 was set to GREEN STR: SCA8 was marked as clinically relevant