Genomics England
GMS Panels
Panels
Genes and Entities

SLC16A12

solute carrier family 16 member 12
OMIM: 611910
PanelMode of inheritanceDetails
1 panel
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cataract 47, juvenile, with microcornea, OMIM:612018, juvenile cataract-microcornea-renal glucosuria syndrome, MONDO:0012786