Genomics England
GMS Panels
Panels
Genes and Entities

DDX58

DExD/H-box helicase 58
OMIM: 609631
PanelMode of inheritanceDetails
1 panel
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Singleton-Merten syndrome 2, OMIM:616298, Singleton-Merten syndrome 2, MONDO:0014575