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

Audo, Isabelle; Bujakowska, Kinga M; Léveillard, Thierry; Mohand-Saïd, Saddek; Lancelot, Marie-Elise; Germain, Aurore; Antonio, Aline; Michiels, Christelle; Saraiva, Jean-Paul; Letexier, Mélanie; Sahel, José-Alain; Bhattacharya, Shomi S; Zeitz, Christina

doi:10.1186/1750-1172-7-8

Orphanet Journal of Rare Diseases

Table 1 Known retinal disease genes

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

Number	Gene name
1	*ABCA4*
2	*ABCC6*
3	*ADAM9*
4	*AHI1*
5	*AIPL1*
6	*ALMS1*
7	*ARL6*
8	*ARMS2*
9	*ATXN7*
10	*BBS10*
11	*BBS12*
12	*BBS2*
13	*BBS4*
14	*BBS5*
15	*BBS7*
16	*BBS9*
17	*BEST1*
18	*C1QTNF5*
19	C2
20	*C2orf71*
21	C3
22	*CA4*
23	*CABP4*
24	*CACNA1F*
25	*CACNA2D4*
26	*CC2D2A*
27	*CDH23*
28	*CDH3*
29	*CEP290*
30	*CERKL*
31	*CFB*
32	*CFH*
33	*CHM*
34	*CLN3*
35	*CLRN1*
36	*CNGA1*
37	*CNGA3*
38	*CNGB1*
39	*CNGB3*
40	*CNNM4*
41	*COL11A1*
42	*COL2A1*
43	*COL9A1*
44	*CRB1*
45	*CRX*
46	*CYP4V2*
47	*DFNB31*
48	*DMD*
49	*DPP3*
50	*EFEMP1*
51	*ELOVL4*
52	*ERCC6*
53	*EYS*
54	*FAM161A*
55	*FBLN5*
56	*FSCN2*
57	*FZD4*
58	*GNAT1*
59	*GNAT2*
60	*GPR98*
61	*GRK1*
62	*GRM6*
63	*GUCA1A*
64	*GUCA1B*
65	*GUCY2D*
66	*HMCN1*
67	*HTRA1*
68	*IDH3B*
69	*IMPDH1*
70	*IMPG2*
71	*INPP5E*
72	*INVS*
73	*IQCB1*
74	*JAG1*
75	*KCNJ13*
76	*KCNV2*
77	*KLHL7*
78	*LCA5*
79	*LRAT*
80	*LRP5*
81	*MERTK*
82	*MFRP*
83	*MKKS*
84	*MKS1*
85	*MTND1*
86	*MTND6*
87	*MT-AP6*
88	*MTND2*
89	*MTND5*
90	*MTND4*
91	*MYO7A*
92	*NDP*
93	*NPHP1*
94	*NPHP3*
95	*NPHP4*
96	*NR2E3*
97	*NRL*
98	*NYX*
99	*OAT*
100	*OFD1*
101	*OPA1*
102	*OPA3*
103	*OPN1LW*
104	*OPN1MW*
105	*OPN1Sw*
106	*OTX2*
107	*PANK2*
108	*PAX2*
109	*PCDH15*
110	*PCDH21*
111	*PDE6A*
112	*PDE6B*
113	*PDE6C*
114	*PDE6G*
115	*PDZD7*
116	*PEX1*
117	*PEX2*
118	*PEX7*
119	*PGK1*
120	*PHYH*
121	*PITPNM3*
122	*PRCD*
123	*PROM1*
124	*PRPF3*
125	*PRPF31*
126	*PRPF8*
127	*PRPH2*
128	*RAX2*
129	*RB1*
130	*RBP3*
131	*RBP4*
132	*RD3*
133	*RDH12*
134	*RDH5*
135	*RGR*
136	*RGS9*
137	*RGS9BP*
138	*RHO*
139	*RIMS1*
140	*RLBP1*
141	*ROM1*
142	*RP1*
143	*RP1L1*
144	*RP2*
145	*RP9*
146	*RPE65*
147	*RPGR*
148	*RPGRIP1*
149	*RPGRIP1L*
150	*RS1*
151	*SAG*
152	*SDCCAG8*
153	*SEMA4A*
154	*SLC24A1*
155	*SNRNP200*
156	*SPATA7*
157	*TEAD1*
158	*TIMM8A*
159	*TIMP3*
160	*TLR3*
161	*TLR4*
162	*TMEM126A*
163	*TOPORS*
164	*TREX1*
165	*TRIM32*
166	*TRPM1*
167	*TSPAN12*
168	*TTC8*
169	*TTPA*
170	*TULP1*
171	*UNC119*
172	*USH1C*
173	*USH1G*
174	*USH2A*
175	*VCAN*
176	*WFS1*
177	*ZNF513*

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ISSN: 1750-1172

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