List of diseases covered by
Autosomal Recessive Retinitis Pigmentosa NGS panel
Gene | Condition |
ABCA4 | Age-related macular degeneration 2; Cone-rod dystrophy 3; Retinitis pigmentosa 19; Stargardt disease 1 |
AIPL1 | Juvenile retinitis pigmentosa, AIPL1-related |
ARL6 | Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 |
BEST1 | Retinitis pigmentosa 50 |
C2orf71 | Retinitis pigmentosa 54 |
C8orf37 | Bardet-Biedl syndrome 21; Cone-rod dystrophy 16; Retinitis pigmentosa 64 |
CA4 | Retinitis pigmentosa 17 |
CERKL | Retinitis pigmentosa 26 |
CLRN1 | Retinitis pigmentosa 61; Usher syndrome, type 3A |
CNGA1 | Retinitis pigmentosa 49 |
CNGB1 | Retinitis pigmentosa 45 |
CNGB3 | Achromatopsia 3 |
CRB1 | Leber congenital amaurosis 8; Pigmented paravenous chorioretinal atrophy; Retinitis pigmentosa 12 |
CRX | Cone-rod dystrophy 2; Leber congenital amaurosis 7; Retinitis pigmentosa |
DHDDS | Retinitis pigmentosa 59 |
EYS | Retinitis pigmentosa 25 |
FAM161A | Retinitis pigmentosa 28 |
FLVCR1 | Posterior column ataxia with retinitis pigmentosa |
FSCN2 | Retinitis pigmentosa 30 |
GUCA1B | Retinitis pigmentosa 48 |
IDH3B | Retinitis pigmentosa 46 |
IMPDH1 | Retinitis pigmentosa 10 |
IMPG2 | Macular dystrophy, vitelliform, 5; Retinitis pigmentosa 56 |
LRAT | Retinitis pigmentosa, juvenile |
MAK | Retinitis pigmentosa 62 |
MERTK | Retinitis pigmentosa 38 |
NR2E3 | Retinitis pigmentosa 37 |
NRL | Retinitis pigmentosa 27 |
PDE6A | Retinitis pigmentosa 43 |
PDE6B | Congenital stationary night blindness, autosomal dominant 2; Retinitis pigmentosa 40 |
PDE6G | Retinitis pigmentosa 57 |
PRCD | Retinitis pigmentosa 36 |
PROM1 | Macular dystrophy, retinal, 2; Cone-rod dystrophy 12; Retinitis pigmentosa 41; Stargardt disease 4 |
PRPF3 | Retinitis pigmentosa 18 |
PRPF6 | Retinitis pigmentosa 60 |
PRPF8 | Retinitis pigmentosa 13 |
PRPF31 | Retinitis pigmentosa 11 |
PRPH2 | Retinitis pigmentosa 7 |
RBP3 | Retinitis pigmentosa 66 |
RDH12 | Leber congenital amaurosis 13 |
RGR | Retinitis pigmentosa 44 |
RHO | Retinitis pigmentosa 4 |
RLBP1 | Bothnia retinal dystrophy; Newfoundland rod-cone dystrophy; Pigmentary retinal dystrophy |
ROM1 | Retinitis pigmentosa 7, digenic |
RP1 | Retinitis pigmentosa 1 |
RP2 | Retinitis pigmentosa 2 |
RP9 | Retinitis pigmentosa 9 |
RPE65 | Retinitis pigmentosa 20 |
RPGR | Cone-rod dystrophy, X-linked 1; Macular degeneration, X-linked atrophic; Retinitis pigmentosa 15; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness |
SAG | Oguchi disease; Retinitis pigmentosa 47 |
SEMA4A | Retinitis pigmentosa 35 |
SPATA7 | Leber congenital amaurosis 3 |
TOPORS | Retinitis pigmentosa 31 |
TTC8 | Bardet-Biedl syndrome 8; Retinitis pigmentosa 51 |
TULP1 | Leber congenital amaurosis 15; Retinitis pigmentosa 14 |
USH2A | Retinitis pigmentosa 39; Usher syndrome, type 2A |
ZNF513 | Retinitis pigmentosa 58 |