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GENE - TERM ANNOTATION REPORT

RGD ID: 18729427
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: SPTBN2
Name: spectrin beta, non-erythrocytic 2
Acc ID: DOID:9002121
Term: Spinocerebellar Ataxias
Definition: A group of dominantly inherited, predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)
Definition Source(s): MESH:D020754
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
SPTBN2 ISOSPTBN2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar Ataxia, DominantPMID:25741868 PMID:26467025 PMID:27965395 PMID:28492532
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