SPTAN1 - Gene browser

SPTAN1

spectrin alpha, non-erythrocytic 1

HCNC Approved Symbol: SPTAN1 (HGNC:11273)
Genomic Coordinates: 9:128,552,587 - 128,633,662 (9q34.11)
Synonyms
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

15Patients

In total, 15 patients were diagnosed with a variant in the SPTAN1 gene.

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

015
Patient count

Global developmental delay: 4 (26.7%)
Patient Count: 4 (26.7%)
% of total patients presenting each phenotype is shown in parentheses.
4 (26.7%)
Spastic paraplegia: 3 (20.0%)
Patient Count: 3 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (20.0%)
Premature birth: 3 (20.0%)
Patient Count: 3 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (20.0%)
Spasticity, progressive: 3 (20.0%)
Patient Count: 3 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (20.0%)
Dystonia: 2 (13.3%)
Patient Count: 2 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (13.3%)