Genomics England
GMS Panels
Panels
Genes and Entities

SPTA1

spectrin alpha, erythrocytic 1
OMIM: 182860
PanelMode of inheritanceDetails
1 panel
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600, 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3, Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970, 270970 Spherocytosis, type 3, 130600 Elliptocytosis-2, RBC membrane abnormality, 266140 Pyropoikilocytosis, Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140