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 |