Genomics England
GMS Panels
Panels
Genes and Entities

IMPDH1

inosine monophosphate dehydrogenase 1
OMIM: 146690
PanelMode of inheritanceDetails
1 panel
Green
in Retinal disorders
R-numbers: R32
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Leber congenital amaurosis 11, Retinitis pigmentosa 10, Retinitis pigmentosa 10, 180105, Leber Congenital Amaurosis, Leber congenital amaurosis 11, Eye Disorders, Retinitis Pigmentosa, Dominant, Retinitis pigmentosa