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
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1 panel
Green
in
Bilateral congenital or childhood onset cataracts
R-numbers:
R31
Signed-off version 4.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adult i Blood Group With or Without Congenital Cataract, [Blood group, Ii], 110800