Genomics England
GMS Panels
Panels
Genes and Entities
GCNT2
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
OMIM:
600429
See this entity in PanelApp
Panel
Mode of inheritance
Details
Filter panels
1 panel
Green
in
Bilateral congenital or childhood onset cataracts
R-numbers:
R31
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adult i Blood Group With or Without Congenital Cataract, [Blood group, Ii], 110800