Congenital Stationary Night Blindness

Gene Symbol Aliases Full Gene Name Chr Disorder Mode of Inheritance OMIM HGNC ID
RHO CSNBAD1; MGC138309; MGC138311; OPN2; RP4 rhodopsin 3q21-q24 Congenital Stationary Night Blindness autosomal dominant +180380 HGNC:10012
GNAT1 CSNBAD3;
GBT1; GNATR
guanine nucleotide binding protein (G protein),
alpha transducing activity polypeptide 1
3p21 Congenital Stationary Night Blindness autosomal dominant *139330 HGNC:4393
PDE6B CSNB3; PDEB; RP40; rd1 phosphodies-terase 6B, cGMP-specific, rod, beta 4p16.3 Congenital Stationary Night Blindness autosomal dominant +180072 HGNC:8786
CABP4 CSNB2B calcium binding
protein 4
11q13.1 Congenital Stationary Night Blindness (incomplete) autosomal recessive *608965 HGNC:1386
GRM6 CSNB1B; DKFZp686H1993; GPRC1F; MGLUR6; mGlu6 glutamate receptor, metabotropic 6 5q35 Congenital Stationary Night Blindness (complete) autosomal recessive *604096 HGNC:4598
SAG DKFZp686D1084; DKFZp686I1383; RP47; S-AG S-antigen, retina and pineal gland (arrestin) 2q37.1 Oguchi Disease autosomal recessive +181031 HGNC:10521
GRK1 GPRK1; RHOK;
RK
G protein-coupled receptor kinase 1 13q34 Oguchi Disease autosomal recessive +180381 HGNC:10013
CACNA1F AIED; COD3; COD4; CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; Cav1.4; JM8; JMC8; OA2 calcium channel, voltage-dependent, L type, alpha 1F subunit Xp11.23 Congenital Stationary Night Blindness (incomplete, CSNB2) X-linked recessive *300110 HGNC:1393
NYX CLRP; CSNB1; CSNB4; MGC138447 nyctalopin Xp11.4 Congenital Stationary Night Blindness (complete, CSNB1) X-linked recessive *300278 HGNC:8082
TRPM1 MLSN1; CSNB1C; LTRPC1 transient receptor potential cation channel, subfamily M, member 1 15q13.3 Congenital Stationary Night Blindness (CSNB1C) autosomal recessive *603576 HGNC:7146
Asper Ophthalmics
Asper Oncogenetics
Asper Reprogenetics