Genes causing retinal degeneration

Classification of Genes Causing Retinal Degenerations

Cloned Genes

Gene symbol Locus Gene/ protein name Function Expression Inheritance:
Dominant Inheritance:
Recessive Inheritance:
X-linked Inheritance:
Mitochondrial Inheritance:
Digenic Phenotype:
RP Phenotype:
LCA Phenotype:
CSNB Phenotype:
Cone-rod Phenotype:
Cone dyst. Phenotype:
Mac. Deg. Phenotype:
Achromat. Phenotype:
Allied dis. Phenotype:
Syndromic RP

GUCA1A COD3 Guanylate cyclase activator-1A Phototransduction Retina specific 1 1 1

ABCA4 RP19; STGD1 ATP-binding cassette (ABC) transporter for retinoids VitaminA cycle Retina specific 1 1 1 1 1

CNGA3 ACHM2 Cone cGMP-gated cation channel, alpha subunit Phototransduction Retina specific 1 1

CNGB3 ACHM3 Cone cGMP-gated cation channel, beta subunit Phototransduction Retina specific 1 1

CNGA1 Rod cGMP-gated cation channel, alpha subunit Phototransduction Retina specific 1 1

CNGB1 Rod cGMP-gated cation channel, beta subunit Phototransduction Retina specific 1 1

FSCN2 Retinal fascin Structural Retina specific 1 1

TULP1 RP14 Tubby-like protein 1 Unknown Retina specific 1 1

RP1 RP1 Oxygen-regulated photoreceptor protein Unknown Retina specific 1 1

RPGRIP1 RPGR interacting protein 1 Unknown Retina specific 1 1

AIPL1 LCA4 Arylhydrocarbon-interacting receptor protein-like 1 Transport Retina specific 1 1

GUCY2D CORD6, LCA1 Retinal guanylate cyclase Phototransduction Retina specific 1 1 1 1

RDS RP7 Peripherin/Retinal Degeneration Slow Structural Retina specific 1 1 1 1

ROM1 Retinal outer segment membrane protein 1 Structural Retina specific 1 1

RS1 XLRS1 Retinoschisin Unknown Retina specific 1 1

CACNA1F CSNB2 L-type voltage-gated calcium channel, alpha-1 subunit Phototransduction Retina specific 1 1

NR2E3 Nuclear receptor subfamily 2 group E3 Transcription factor Retina specific 1 1

CRX CORD2 Cone-rod homeobox transcription factor Transcription factor Retina specific 1 1 1 1 1

NRL RP27 Neural retina lucine zipper Transcription factor Retina specific 1 1

RHO RP4 Rhodopsin Phototransduction Retina specific 1 1 1 1

RHOK Rhodopsin kinase Phototransduction Retina specific 1 1

CRB1 RP12 Drosophila crumbs homolog 1 Cell to Cell interactions Retina specific 1 1 1

PDE6A Rod cGMP phosphodiesterase, alpha subunit Phototransduction Retina specific 1 1

PDE6B CSNB3 Rod cGMP phosphodiesterase, beta subunit Phototransduction Retina specific 1 1 1 1

SAG Arrestin/s-antigen Phototransduction Retina specific 1 1 1

GNAT1 Rod transducin, alpha subunit Phototransduction Retina specific 1 1

RLBP1 Cellular retinaldehyde-binding protein Vitamin A cycle Retina specific 1 1 1

OPN1LW Green cone opsin Phototransduction Retina specific 1 1

OPN1SW Blue cone opsin Phototransduction Retina specific 1 1

RPE65 LCA2, RP20 Retinal pigment epithelium-specific 65 kD protein VitaminA cycle RPE specific 1 1 1

LRAT Lecithin retinol acyltransferase Vitamin A cycle RPE specific 1 1

RGR RPE G protein-coupled receptor Vitamin A cycle RPE specific 1 1

KSS Responsible for Kearns-Sayre syndrome Metabolism mitochondrial 1 1

LHON Responsible for Leber hereditary optic neuropathy; mitochondrialcomplex I, III or IV proteins Metabolism mitochondrial 1 1

MTATP6 Mirochondrial complex V, ATPase 6 subunit Metabolism mitochondrial 1 1

MTTL1 Mitochondrial leucine tRNA 1 tRNA mitochondrial 1 1

MTTS2 Mitochondrial serine tRNA 2 tRNA mitochondrial 1 1

HPRP3 RP18 Yeast pre-mRNA splicing factor 3 homolog mRNA processing Ubiquitous 1 1

MERTK c-mer protooncogene receptor tyrosine kinase phagocytosis Ubiquitous 1 1

OPA1 OPA1 Structural Ubiquitous 1 1

USH3A USH3 Unknown Ubiquitous 1 1

USH1C USH1C, DFNB18 Harmonin Unknown Ubiquitous 1 1

USH2A USH2A Usherin Structural Ubiquitous 1 1 1

PRPC8 RP13 Yeast pre-mRNA splicing factor C8 homolog RNA processing Ubiquitous 1 1

OPA3 OPA3 Unknown Ubiquitous 1 1

PRPF31 RP11 Yeast pre-mRNA splicing factor 31 homolog RNA processing Ubiquitous 1 1

NYX CSNB1 Nyctalopin Unknown Ubiquitous 1 1

NDP EVR2 Responsible for Norrie disease Unknown Ubiquitous 1 1

RBP4 Retinol-binding protein 4 Vitamin A cycle Ubiquitous 1 1

CHM CHM Responsible for choroideremia; geranylgeranyl transferase Rabescort protein 1 Metabolism Ubiquitous 1 1

VMD2 VMD2 Bestrophin Unknown Ubiquitous 1 1

MKKS BBS6 Unknown Ubiquitous 1 1 1

EFEMP1 DHRD EGF-containing fibrillin-like extracellular matrix protein1 Structural Ubiquitous 1 1

ELOVL4 STGD3 Elongation of very long fatty acids protein Metabolism Ubiquitous 1 1

MYO7A USH1B, DFNB2 Myosin VIIA Cytoskeletal Ubiquitous 1 1

OAT Ornithine aminotransferase Metabolism Ubiquitous 1 1

PROML1 Prominin-like 1 Unknown Ubiquitous 1 1

RPGR RP3 Retinitis pigmentosa GTPase regulator Unknown Ubiquitous 1 1

RP2 RP2 Unknown Ubiquitous 1 1

TIMP3 TIMP3 Tissue inhibitor of metalloproteinases-3 Unknown Ubiquitous 1 1

CDH23 USH1D; DFNB12 cadherin-like protein 23 Structural Ubiquitous 1 1

PCDH15 USH1F protocadherin 15 Structural Ubiquitous 1 1

SCA7 OPCA3 Spinocerebellar ataxia 7 Unknown Ubiquitous 1 1

WFS1 DFNA38 Wolframin Unknown Ubiquitous 1 1

RDH5 11-cis retinol dehydrogenase 5 Vitamin A cycle Ubiquitous 1 1 1

TIMM8A DDP2 Inner mitochondrial membrane translocase 8 homolog A Transport Ubiquitous 1 1

PEX1 Peroxisome biogenesis factor 1 Transport Ubiquitous 1 1

JAG1 Jagged protein 1 Cell to Cell interactions Ubiquitous 1 1

PHYH Phytanoyl-CoA hydroxylase Metabolism Ubiquitous 1 1

CLN3 Responsible for Batten disease Unknown Ubiquitous 1 1

MTP Microsomal triglyceride transfer protein Transport Ubiquitous 1 1

TTPA Alpha-tocopherol-transfer protein Transport Ubiquitous 1 1

ABCC6 ATP-binding casette subfamily C member 6 Transport Ubiquitous 1 1 1

BBS2 BBS2 Unknown Ubiquitous 1 1 1

BBS4 BBS4 Unknown Ubiquitous 1 1 1

TOTALS 75 genes 22 43 9 5 5 26 6 8 4 2 4 2 23 16

Unidentified Genes

Gene symbol Locus Gene/ protein name Function Expression Inheritance:
Dominant Inheritance:
Recessive Inheritance:
X-linked Inheritance:
Mitochondrial Inheritance:
Digenic Phenotype:
RP Phenotype:
LCA Phenotype:
CSNB Phenotype:
Cone-rod Phenotype:
Conedyst. Phenotype:
Mac. Deg. Phenotype:
Achromat. Phenotype:
Allied Dis. Phenotype:
Syndromic RP

AA 1 1

ACHM1 1 1

AIED; OA2 1 1

ALMS1 1 1

ARMD1 1 1

AXPC1 1 1

BBS1 1 1

BBS3 1 1

BBS5 1 1

BCD 1 1

CACD 1 1

COD1 1 1

COD2 1 1

CORD1 Not speciifed

CORD4 1 1

CORD5 1 1 1 1

CORD8 1 1

CORD9 1 1

CYMD 1 1

EVR1; FEVR 1 1

EVR3 1 1

LACA5 1 1

LCA3 1 1

MCDR1 1 1

(MRST) 1 1

OPA2 1 1

OPA4 1 1

PRD 1 1

RCD1 1 1

RP10 1 1

RP17 1 1

RP22 1 1

RP23 1 1

RP24 1 1

RP25 1 1

RP26 1 1

RP28 1 1

RP29 1 1

RP6 1 1

RP9 1 1

STGD4 1 1

USH1A 1 1

USH1E 1 1

USH2B 1 1

VRNI 1 1

WFS2 1 1

WGN1;ERVR 1 1

Gene symbol	Locus	Gene/ protein name	Function	Expression	Inheritance: Dominant	Inheritance: Recessive	Inheritance: X-linked	Inheritance: Mitochondrial	Inheritance: Digenic	Phenotype: RP	Phenotype: LCA	Phenotype: CSNB	Phenotype: Cone-rod	Phenotype: Conedyst.	Phenotype: Mac. Deg.	Phenotype: Achromat.	Phenotype: Allied Dis.	Phenotype: Syndromic RP
	AA				1												1
	ACHM1					1											1
	AIED; OA2						1										1
	ALMS1					1												1
	ARMD1				1										1
	AXPC1				1													1
	BBS1					1												1
	BBS3					1												1
	BBS5					1												1
	BCD					1												1
	CACD				1												1
	COD1						1							1
	COD2						1							1
	CORD1				Not speciifed
	CORD4				1								1
	CORD5				1	1							1	1
	CORD8					1								1
	CORD9					1							1
	CYMD				1										1
	EVR1; FEVR				1													1
	EVR3				1												1
	LACA5					1											1
	LCA3					1											1
	MCDR1				1										1
	(MRST)					1												1
	OPA2						1										1
	OPA4				1												1
	PRD						1										1
	RCD1				1									1
	RP10				1					1
	RP17				1					1
	RP22					1				1
	RP23						1			1
	RP24						1			1
	RP25					1				1
	RP26					1												1
	RP28					1				1
	RP29					1				1
	RP6						1			1
	RP9				1					1
	STGD4				1										1
	USH1A					1												1
	USH1E					1												1
	USH2B					1												1
	VRNI				1												1
	WFS2					1												1
	WGN1;ERVR				1													1