SPTA1 - Gene browser

SPTA1

spectrin alpha, erythrocytic 1

HCNC Approved Symbol: SPTA1 (HGNC:11272)
Genomic Coordinates: 1:158,610,704 - 158,686,715 (1q23.1)
Synonyms: EL2
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

6Patients

In total, 6 patients were diagnosed with a variant in the SPTA1 gene.

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

06
Patient count

Splenomegaly: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
Abnormal proerythroblast morphology: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Anemia: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Diaphragmatic hernia: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Thrombocytopenia: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)