List of diseases covered by
Cone-Rod Dystrophy NGS panel

Gene Condition
ABCA4 Age-related macular degeneration 2; Cone-rod dystrophy 3;
Retinitis pigmentosa 19; Stargardt disease 1
ADAM9 Cone-rod dystrophy 9
AIPL1 Cone-rod dystrophy
BEST1 Bestrophinopathy, autosomal recessive;
Retinitis pigmentosa 50; Vitelliform macular dystrophy type 2;
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
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
CACNA2D4 Retinal cone dystrophy 4
CDHR1 Cone-rod dystrophy 15
CERKL Retinitis pigmentosa 26
CNGB3 Achromatopsia 3; Macular degeneration, juvenile
CNNM4 Jalili syndrome
C8ORF37 Bardet-Biedl syndrome 21; Cone-rod dystrophy 16
CRX Cone-rod retinal dystrophy-2;
Leber congenital amaurosis 7
GNAT2 Achromatopsia 4
GUCA1A Cone dystrophy-3
GUCY2D Cone-rod dystrophy 6; Leber congenital amaurosis 1
KCNV2 Retinal cone dystrophy 3B
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy
PDE6C Cone dystrophy 4
PDE6H Retinal cone dystrophy 3
PITPNM3 Cone-rod dystrophy 5
POC1B Cone-rod dystrophy 20
PROM1 Cone-rod dystrophy 12; Macular dystrophy, retinal, 2;
Retinitis pigmentosa 41; Stargardt disease 4
PRPH2 Choroidal dystrophy, central areolar 2;
Leber congenital amaurosis 18; Macular dystrophy, patterned, 1;
Macular dystrophy, vitelliform, 3; Retinitis pigmentosa 7 and digenic;
Retinitis punctata albescens
RAB28 Cone-rod dystrophy 18
RAX2 Cone-rod dystrophy 11
RDH5 Fundus albipunctatus
RGS9 Bradyopsia
RGS9BP Bradyopsia
RIMS1 Cone-rod dystrophy 7
RPGR Cone-rod dystrophy, X-linked, 1;
Macular degeneration, X-linked atrophic; Retinitis pigmentosa 3;
Retinitis pigmentosa, X-linked, and sinorespiratory infections,
with or without deafness
RPGRIP1 Cone-rod dystrophy 13; Leber congenital amaurosis 6
SEMA4A Cone-rod dystrophy 10; Retinitis pigmentosa 35
TTLL5 Cone-rod dystrophy 19
UNC119 Cone-rod dystrophy