Genomics England
GMS Panels
Panels
Genes and Entities

KCNJ13

potassium voltage-gated channel subfamily J member 13
OMIM: 603208
PanelMode of inheritanceDetails
1 panel
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Leber congenital amaurosis 16, 614186, Leber Congenital Amaurosis, Eye Disorders, Snowflake vitreoretinal degeneration, 193230