SPTBN2 - Gene browser

SPTBN2

spectrin beta, non-erythrocytic 2

HCNC Approved Symbol: SPTBN2 (HGNC:11276)
Genomic Coordinates: 11:66,682,497 - 66,744,682 (11q13.2)
Synonyms: SCA5
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

8Patients

In total, 8 patients were diagnosed with a variant in the SPTBN2 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

08
Patient count

Dysarthria: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Scoliosis: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Limb ataxia: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Cerebellar ataxia: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Ataxia: 1 (12.5%)
Patient Count: 1 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
1 (12.5%)