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