Genomics England
GMS Panels
Panels
Genes and Entities

SPTA1

spectrin alpha, erythrocytic 1
OMIM: 182860
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary pyropoikilocytosis, Spherocytosis, type 3, OMIM:270970, Congenital anaemia, Elliptocytosis-2, OMIM:130600, Hydrops fetalis
Green
in Rare anaemia
R-numbers: R92
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Elliptocytosis-2, OMIM:130600, Pyropoikilocytosis, OMIM:266140, Spherocytosis, type 3, OMIM:270970