Genomics England
GMS Panels
Panels
Genes and Entities
KCNV2
potassium voltage-gated channel modifier subfamily V member 2
OMIM:
607604
See this entity in PanelApp
Panel
Mode of inheritance
Details
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1 panel
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in
Retinal disorders
R-numbers:
R32
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal Cone Dystrophy, Eye Disorders, Achromatopsia, Cone, and Cone-rod Dystrophy