GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2(AOA2 - ataxia oculomotor apraxia type 2)      Explore Disorder's Alias
An Autosomal recessive mode(s) within the Neurodegenerative disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 SETX/23064 senataxin 9q34.13 Chr9, NC_000009.12
(132261356..132356744, complement)
95389 nt 33 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information             Highlighted rows indicate variants are reported from India
Disorder Cross-References:      Orphanet          OMIM          GARD          GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          NORD     

Patient care services
Clinical Symptoms & Disabilities