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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/608768
http://purl.bioontology.org/ontology/OMIM/608768
|
|---|---|
| Preferred Name | SPINOCEREBELLAR ATAXIA 8 |
| Synonyms |
SCA8
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SCA8
|
|---|---|
| prefLabel | SPINOCEREBELLAR ATAXIA 8
|
| Gene Symbol | ATXN8
|
| Scope Statement | Caused by a trinucleotide repeat expansion (CTG)n in the ataxin 8 opposite strand gene (ATXN8OS, 603680.0001) [MOLECULAR BASIS]
Onset between 18 and 65 years [MISCELLANEOUS]
Normal alleles contain 15 to 50 repeats [MISCELLANEOUS]
Caused by a trinucleotide repeat expansion (CAG)n in the ataxin 8 gene (ATXN8, 613289.0001) [MOLECULAR BASIS]
Pathogenic alleles contain 71 to 1,300 repeats [MISCELLANEOUS]
SCA8 is caused by bidirectional transcription on chromosome 13q21 involving complementary repeat expansion in ATXN8 (613289) and ATXN8-opposite strand (603680) [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 13q21
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 608768
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1837454
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |