Genomics England
GMS Panels
Panels
Genes and Entities

PDE6H

phosphodiesterase 6H
OMIM: 601190
PanelMode of inheritanceDetails
1 panel
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RETINAL CONE DYSTROPHY 3 PDE6H 610024, ACHROMATOPSIA