Genomics England
GMS Panels
Panels
Genes and Entities
UBIAD1
UbiA prenyltransferase domain containing 1
OMIM:
611632
See this entity in PanelApp
Panel
Mode of inheritance
Details
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1 panel
Green
in
Corneal dystrophy
R-numbers:
R262
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Corneal dystrophy, Schnyder type 121800