CACNA1F

calcium voltage-gated channel subunit alpha1 F
OMIM: 300110
PanelMode of inheritanceDetails
2 panels
R-numbers: R39
Signed-off version 1.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL, Cone-rod dystrophy, X-linked, 3 300476 XLR, Aland Island eye disease 300600 XL
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Achromatopsia, Cone, and Cone-rod Dystrophy, Congenital Stationary Night Blindness, Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071Cone-rod dystropy, X-linked, 3, 300476Aland Island eye disease, 300600