loading...| Preferred Name |
SPINOCEREBELLAR ATAXIA 6 |
|
| Synonyms |
SCA6 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/183086 |
|
| altLabel |
SCA6 |
|
| cui |
C0752124 |
|
| Gene Locus |
19p13 |
|
| Gene Symbol |
SCA6 DEE42 CACNL1A4 CACNA1A |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU015572 http://purl.bioontology.org/ontology/OMIM/MTHU000136 http://purl.bioontology.org/ontology/OMIM/MTHU015574 http://purl.bioontology.org/ontology/OMIM/MTHU000933 http://purl.bioontology.org/ontology/OMIM/MTHU036443 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU000926 http://purl.bioontology.org/ontology/OMIM/MTHU031478 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
183086 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
SPINOCEREBELLAR ATAXIA 6 |
|
| Scope Statement |
Pathogenic alleles have 19 to 33 repeats [MISCELLANEOUS] Caused by expanded CAG trinucleotide repeats in the alpha-1A calcium channel subunit gene (CACNA1A, 601011.0007) [MOLECULAR BASIS] Caused by mutation in the alpha-1A calcium channel subunit gene (CACNA1A, 601011.0002) [MOLECULAR BASIS] Age of onset 20-65 years [MISCELLANEOUS] Genetic anticipation [MISCELLANEOUS] Normal alleles have 4 to 18 repeats [MISCELLANEOUS] Progressive disorder [MISCELLANEOUS] |
|
| tui |
T047 |