Genomics England
GMS Panels
Panels
Genes and Entities

ANK1

ankyrin 1
OMIM: 612641
PanelMode of inheritanceDetails
1 panel
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
182900 Spherocytosis, type 1, 182900 RBC membrane abnormality, RBC membrane abnormality, Spherocytosis, type 1,182900, Spherocytosis, type 1