Genomics England
GMS Panels
Panels
Genes and Entities

P3H2

prolyl 3-hydroxylase 2
OMIM: 610341
PanelMode of inheritanceDetails
2 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopia, high, with cataract and vitreoretinal degeneration, 614292 -3
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopia, high, with cataract and vitreoretinal degeneration, OMIM:614292, MONDO:0013670