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
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