KCNJ13

potassium voltage-gated channel subfamily J member 13
OMIM: 603208
PanelMode of inheritanceDetails
1 panel
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Leber congenital amaurosis 16, 614186, Leber Congenital Amaurosis, Eye Disorders, Snowflake vitreoretinal degeneration, 193230