List of diseases covered by
Congenital Stationary Night Blindness NGS panel

Gene Condition
CABP4 Cone-rod synaptic disorder, congenital nonprogressive
CACNA1F Aland Island eye disease;
Cone-rod dystrophy, X-linked, 3;
Night blindness, congenital stationary (incomplete), 2A, X-linked
CHM Choroideremia
GNAT1 Night blindness, congenital stationary, autosomal dominant 3;
Night blindness, congenital stationary, type 1G
GRK1 Oguchi disease-2
GRM6 Night blindness, congenital stationary (complete), 1B,
autosomal recessive
NYX Night blindness, congenital stationary (complete), 1A,
X-linked
PDE6B Night blindness, congenital stationary,
autosomal dominant 2; Retinitis pigmentosa-40
RDH5 Fundus albipunctatus
RHO Night blindness, congenital stationary,
autosomal dominant 1;
Retinitis pigmentosa 4, autosomal dominant or recessive;
Retinitis punctata albescens
SAG Oguchi disease-1; Retinitis pigmentosa 47
SLC24A1 Night blindness, congenital stationary (complete), 1D,
autosomal recessive
TRPM1 Night blindness, congenital stationary (complete), 1C,
autosomal recessive