Genomics England
GMS Panels
Panels
Genes and Entities
PDE6H
phosphodiesterase 6H
OMIM:
601190
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Panel
Mode of inheritance
Details
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1 panel
Green
in
DDG2P
Component of the following Super Panels:
- Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RETINAL CONE DYSTROPHY 3 PDE6H 610024, ACHROMATOPSIA