Table 6 Genes and proteins leading to retinal dystrophies involved in structure of photoreceptors and ciliary function

CEP290

12q21.32

centrosomal protein 290 kDa

Structural: connecting cilium

21

arRP, arLCA, JS, BBS

FSC2

17q25.3

Fascin 2

Structural

adRP

RDS

6p21.2

Retinal degeneration slow-peripherin

Structural

9.5

adRP, adMD, RP digenic with ROM1

ROM1

11q12.3

retinal outer segment membrane protein 1

Structural

2

RP digenic with RDS

RP1

8q12.1

RP1 protein

Structural: photoreceptor trafficking

3.5

adRP, arRP

TULP1

6p21.31

tubby-like protein 1

Retinal development

2

arRP, arLCA

USH2A

1q41

usherin

Structural: photoreceptor trafficking

10

arRP, USH

CRB1

1q31.3

crumbs homolog 1

Structural: extracellular matrix

6.5

arRP, arLCA

RP2

Xp11.23

XRP2 protein similar to human cofactor C

Structural: photoreceptor trafficking

15

xlRP

RPGR

Xp14

retinitis pigmentosa GTPase regulator

Structural: photoreceptor trafficking

75

xlRP, xlCORD, xlCSNB

RPGRIP1

14q11.2

RP GTPase regulator-interacting protein 1

Structural: photoreceptor trafficking

arLCA

LCA5

6q14.1

Lebercilin

Structural: photoreceptor trafficking

arLCA

OFD1

Xp22.2

oral-facial-digital syndrome 1 protein

Ciliary function

JS

MYO7A

11q13.5

Myosin VIIA

Photoreceptor trafficking

USH

USH1C

11p14-p15

harmonin

Structural: scaffolding

USH

DFNB31

9q32-q34

whirlin

Structural: scaffolding

USH

CDH23

10q21-q22

cadherin-23

Structural: cell-cell adhesion

USH

PCDH15

10q21-q22

protocadherin-15

Structural: cell-cell adhesion

USH

USH1G

17q24-q25

SANS

Structural: scaffolding

USH

GPR98

5q14-q21

VLGR1

Structural: extracellular matrix

USH

BBS1

11q13

BBS protein 1

Ciliary function

BBS

BBS2

16q21.2

BBS protein 2

Ciliary function

BBS

ARL6/BBS3

3q11.2

ADP-ribosylation factor-like 6

Ciliary function

BBS

BBS4

15q24.1

BBS protein 4

Ciliary function

BBS

BBS5

2q31.1

flagellar apparatus-basal body protein DKFZp7621194

Ciliary function

BBS

MKKS/BBS6

20p12.1

McKusick-Kaufman syndrome protein

Ciliary function: chaperonine

BBS, MKKS

BBS7

4q27

BBS protein 7

Ciliary function

BBS

TTC8/BBS8

14q32.11

tetratricopeptide repeat domain 8

Ciliary function

BBS

B1/BBS9

7p14.3

parathyroid hormone-responsive B1 protein

Ciliary function

BBS

BBS10

12q21.2

BBS protein 10

Ciliary function: chaperonine

BBS

TRIM32

9q33.1

tripartite motif-containing protein 32

Ciliary function

BBS, LGMD2H

BBS12

4q27

BBS protein 12

Ciliary function: chaperonine

BBS

MKS1/BBS13

17q22

FABB proteome-like protein

Ciliary function

BBS, MKS

AHI1

6q23.3

Abelson helper integration site 1

Ciliary function

NPH