Genomics England
GMS Panels
Panels
Genes and Entities

PRDM5

PR/SET domain 5
OMIM: 614161
PanelMode of inheritanceDetails
2 panels
Green
in Corneal dystrophy
R-numbers: R262
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brittle cornea syndrome 614170
Green
in Ehlers Danlos syndrome with a likely monogenic cause
R-numbers: R101
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brittle cornea syndrome 2, OMIM:614170