Skip to main content

Table 2 Candidate genes for retinal disorders

From: Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

Number Gene name Reason References
1 ADCY1 diff. Expression rd1 mouse Chalmel et al., manuscript in preparatiom
2 ANKRD33 diff. Expression rd1 mouse Chalmel et al., manuscript in preparatiom
3 ANXA2 Promotion of choroidal neovascularization [36]
4 ARL13B Cilia protein, mutations lead to Joubert Syndrome [37]
5 BMP7 Regulation of Pax 2 in mouse retina [38]
6 BSG - Thierry Leveillard personal commmunication
7 CAMK2D diff. Expression rd1 mouse Chalmel et al., manuscript in preparatiom
8 CCDC28B Modifier for BBS [39, 40]
9 CLCN7 Cln7-/- mice severe osteopetrosis and retinal degeneration [41]
10 COL4A3 Alport syndrome, with eye abnormalities [42, 43]
11 COL4A4 Alport syndrome, with eye abnormalities [42, 44]
12 COL4A5 Alport syndrome, with eye abnormalities [42, 45]
13 CUBN - Personal communication Renata Kozyraki
14 CYP1B1 glaucoma [46]
15 DOHH diff. Expression rd1 mouse Chalmel et al., manuscript in preparatiom
16 DSCAML1 diff. Expression rd1 mouse Chalmel et al., manuscript in preparatiom
17 ESRRB diff. Expression rd1 mouse Chalmel et al., manuscript in preparatiom
18 FIZ1 Interactor of NRL [47]
19 GJA9 diff. Expression rd1 mouse Chalmel et al., manuscript in preparatiom
20 GNAZ diff. Expression rd1 mouse Chalmel et al., manuscript in preparatiom
21 GNGT1 diff. Expression rd1 mouse Chalmel et al., manuscript in preparatiom
22 GPR152 diff. Expression rd1 mouse Chalmel et al., manuscript in preparatiom
23 HCN1 diff. Expression rd1 mouse Chalmel et al., manuscript in preparatiom
24 HEATR5A diff. Expression rd1 mouse Chalmel et al., manuscript in preparatiom
25 HIST1H1C Expressed in retina Expression databases
26 IMPG1 diff. Expression rd1 mouse Chalmel et al., manuscript in preparatiom
27 INSL5 diff. Expression rd1 mouse Chalmel et al., manuscript in preparatiom
28 KCNB1 diff. expression rd1 mouse Chalmel et al., manuscript in preparatiom
29 KCTD7 Expressed in retina Expression databases
30 LASS4 diff. expression rd1 mouse Chalmel et al., manuscript in preparatiom
31 LRIT2 diff. expression rd1 mouse Chalmel et al., manuscript in preparatiom Rd1 mouse
32 LRP2 - Personal communication Renata Kozyraki
33 MAB21L1 diff. expression Rd1 mouse Chalmel et al., manuscript in preparatiom
34 MAP2 diff. expression rd1 mouse Chalmel et al., manuscript in preparatiom
35 MAS1 Degeneration of cones due to expression of Mas1 [48]
36 MAST2 diff. expression rd1 mouse Chalmel et al., manuscript in preparatiom
37 MPP4 diff. expression rd1 mouse Chalmel et al., manuscript in preparatiom
38 MYOC glaucoma [49]
39 NDUFA12 diff. expression rd1 mouse Chalmel et al., manuscript in preparatiom
40 NEUROD1 BETA2/NeuroD1 -/- mouse: photoreceptor degeneration [50]
41 NOS2 glaucoma [51]
42 NXNL1 Rod-derived cone viability factor [52]
43 NXNL2 Rod-derived cone viability factor 2 [53]
44 OPN1MW2 Cone opsin, medium-wave-sensitive2 [54]
45 OPTN glaucoma [55]
46 PFKFB2 diff. expression rd1 mouse Chalmel et al., manuscript in preparatiom
47 PIAS3 Rod photoreceptor development [56]
48 PKD2L1 Diff. expression in human retinal detachment Delyfer et al. 2011 submitted
49 PLEKHA1 Age-related macular degeneratiom [57]
50 PPEF2 diff. expression rd1 mouse Chalmel et al., manuscript in preparatiom
51 RAB8A Interacts with RPGR, role in cilia biogenesis and maintenance [58]
52 RABGEF1 diff. expression rd1 mouse Chalmel et al., manuscript in preparatiom
53 RCVRN diff. expression rd1 mouse Chalmel et al., manuscript in preparatiom
54 RGS20 diff. expression rd1 mouse Chalmel et al., manuscript in preparatiom
55 RNF144B diff. expression rd1 mouse Chalmel et al., manuscript in preparatiom
56 RORB Rod photoreceptor development in mice [59]
57 RXRG Retinoic acid receptor, highly expressed in the eye Expression databases
58 SGIP1 diff. expression rd1 mouse Chalmel et al., manuscript in preparatiom
59 SLC16A8 Altered visual function in ko-mice [60]
60 SLC17A7 diff. expression rd1 mouse Chalmel et al., manuscript in preparatiom
61 STAM2 diff. expression rd1 mouse Chalmel et al., manuscript in preparatiom
62 STK35 diff. expression rd1 mouse Chalmel et al., manuscript in preparatiom
63 STX3 diff. expression rd1 mouse Chalmel et al., manuscript in preparatiom
64 SV2B diff. expression rd1 mouse Chalmel et al., manuscript in preparatiom
65 TBC1D24 diff. expression rd1 mouse Chalmel et al., manuscript in preparatiom
66 THRB Essential for M-cone development in rodents [61]
67 TMEM216 Cilia protein, mutations lead to Joubert and Meckel syndrome [62]
68 TMEM67 Cilia protein, mutations lead to Joubert [63]
69 TRPC1 diff. expression rd1 mouse diff. expression Rd1 mouse
70 UHMK1 diff. expression rd1 mouse diff. expression Rd1 mouse
71 VSX1 Stimulator for promoter NXNL1 [64]
72 VSX2 Stimulator for promoter NXNL1 [64]
73 WDR17 diff. expression rd1 mouse diff. expression Rd1 mouse
74 WDR31 diff. expression Nxnl1-/- mouse [65]
75 WISP1 diff. expression rd1 mouse Chalmel et al., manuscript in preparatiom
76 XIAP Protects photoreceptors in animal models of RP [66]
77 ZDHHC2 diff. expression Rd1 mouse Chalmel et al., manuscript in preparatiom