Genomics England
GMS Panels
Panels
Genes and Entities

SPTB

spectrin beta, erythrocytic
OMIM: 182870
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Elliptocytosis-3, OMIM:617948, Anemia, neonatal hemolytic, fatal or near-fatal, OMIM:617948, Spherocytosis, type 2, OMIM:616649
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spherocytosis,616649, Elliptocytosis, Anemia, neonatal hemolytic, fatal and near-fatal, RBC membrane abnormality, 617948 Elliptocytosis-3, 616649 Spherocytosis, type 2, 616649 Anemia, neonatal hemolytic, fatal and near-fatal