Retinal Degeneration Disorders 105 Gene Panel

Laboratories

1 laboratory offers this test:

Service level	Referral category	Laboratory	Calendar Days	NHS Price
Sequencing of the entire coding region of gene (s)	Postnatal Diagnosis Routine	Manchester RGC	112	£897
Testing for known mutations in family members	Postnatal Diagnosis Routine	Manchester RGC	28	£138

Genes & Disorders

Show alternative names & symbols

Disorders	Symbol	MIM	Links
Achromatopsia 2 Colorblindness, Total Rod Monochromacy 2 Rod Monochromatism 2	ACHM2 RMCH2	216900	Genetic Test Registry
Achromatopsia 3 Achromatopsia With Myopia Pingelapese Blindness Rod Monochromacy 1 Rod Monochromatism 1 Total Colorblindness With Myopia	ACHM3 ACHM1 RMCH1	262300	Genetic Test Registry
Achromatopsia 4	ACHM4	613856	Genetic Test Registry
Bardet-Biedl Syndrome 1	BBS1	209900	Genetic Test Registry
Bardet-Biedl Syndrome 10	BBS10	615987	Genetic Test Registry
Bardet-Biedl Syndrome 11	BBS11	615988	Genetic Test Registry
Bardet-Biedl Syndrome 12	BBS12	615989	Genetic Test Registry
Bardet-Biedl Syndrome 13	BBS13	615990	Genetic Test Registry
Bardet-Biedl Syndrome 14	BBS14	615991	Genetic Test Registry
Bardet-Biedl Syndrome 2	BBS2	615981	Genetic Test Registry
Bardet-Biedl Syndrome 3	BBS3	600151	Genetic Test Registry
Bardet-Biedl Syndrome 4	BBS4	615982	Genetic Test Registry
Bardet-Biedl Syndrome 5	BBS5	615983	Genetic Test Registry
Bardet-Biedl Syndrome 6	BBS6	605231	Genetic Test Registry
Bardet-Biedl Syndrome 7	BBS7	615984	Genetic Test Registry
Bardet-Biedl Syndrome 8	BBS8	615985	Genetic Test Registry
Bardet-Biedl Syndrome 9	BBS9	615986	Genetic Test Registry
Bestrophinopathy, Autosomal Recessive Bestrophinopathy	ARB	611809	Genetic Test Registry
Bothnia Retinal Dystrophy Vasterbotten Dystrophy		607475	Genetic Test Registry
Choroidal Dystrophy, Central Areolar 2 Macular Dystrophy, Progressive	CACD2	613105	Genetic Test Registry
Choroideremia Choroidal Sclerosis, Included Tapetochoroidal Dystrophy, Progressive	CHM TCD	303100	Genetic Test Registry
Cone Dystrophy 3 Cone-Rod Dystrophy 14 Retinal Cone Dystrophy	COD3 CORD14	602093	Genetic Test Registry
Cone Dystrophy 4 Achromatopsia 5	COD4 ACHM5	613093	Genetic Test Registry
Cone-Rod Dystrophy 10	CORD10	610283	Genetic Test Registry
Cone-Rod Dystrophy 11	CORD11	610381	Genetic Test Registry
Cone-Rod Dystrophy 12	CORD12	612657	Genetic Test Registry
Cone-Rod Dystrophy 13	CORD13	608194	Genetic Test Registry
Cone-Rod Dystrophy 15 Retinitis Pigmentosa 65	CORD15 RP65	613660	Genetic Test Registry
Cone-Rod Dystrophy 2 Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy Retinal Cone-Rod Dystrophy	CORD2 CORD CRD CRD2 RCRD2	120970	Genetic Test Registry
Cone-Rod Dystrophy 5	CORD5	600977	Genetic Test Registry
Cone-Rod Dystrophy 7	CORD7	603649	Genetic Test Registry
Cone-Rod Dystrophy 9	CORD9	612775	Genetic Test Registry
Deafness, Autosomal Dominant 11	DFNA11	601317	Genetic Test Registry
Deafness, Autosomal Recessive 12	DFNB23	601386	Genetic Test Registry
Deafness, Autosomal Recessive 18A Deafness, Autosomal Recessive 18	DFNB18A DFNB18	602092	Genetic Test Registry
Deafness, Autosomal Recessive 2 Neurosensory Nonsyndromic Recessive Deafness 2	DFNB2 NSRD2	600060	Genetic Test Registry
Deafness, Autosomal Recessive 23	DFNB23	609533	Genetic Test Registry
Deafness, Autosomal Recessive 31 Whirler, Mouse, Homolog Of	DFNB31	607084	Genetic Test Registry
Doyne Honeycomb Retinal Dystrophy Doyne Honeycomb Degeneration Of Retina	DHRD DHD	126600	Genetic Test Registry
Exudative Vitreoretinopathy 1 Criswick-Schepens Syndrome Exudative Vitreoretinopathy, Familial, Autosomal Dominant Fevr, Autosomal Dominant Retinopathy Of Prematurity, Included	EVR1 ROP, INCLUDED	133780	Genetic Test Registry
Exudative Vitreoretinopathy 2, X-Linked Exudative Vitreoretinopathy, Familial, 2 FEVR, X-Linked	EVR2 EVRX FEVRX	305390	Genetic Test Registry
Exudative Vitreoretinopathy 4	EVR4	601813	Genetic Test Registry
Fibrosis Of Extraocular Muscles, Congenital, 1 Blepharoptosis With Absent Eye Movements Ophthalmoplegia, Congenital	CFEOM1 CFEOM FEOM1	135700	Genetic Test Registry
Fundus Albipunctatus Retinitis Punctata Albescens		136880	Genetic Test Registry
Joubert Syndrome 5	JBTS5	610188	Genetic Test Registry
Late-Onset Retinal Degeneration Retinal Degeneration, Late-Onset, Autosomal Dominant	LORD	605670	Genetic Test Registry
Leber Congenital Amaurosis 1 Amaurosis Congenita Of Leber I Retinal Blindness, Congenital	LCA1 CRB LCA	204000	Genetic Test Registry
Leber Congenital Amaurosis 10	LCA10	611755	Genetic Test Registry
Leber Congenital Amaurosis 11	LCA11	613837	Genetic Test Registry
Leber Congenital Amaurosis 12	LCA12	610612	Genetic Test Registry
Leber Congenital Amaurosis 13 Retinitis Pigmentosa 53	LCA13	612712	Genetic Test Registry
Leber Congenital Amaurosis 14 Retinal Dystrophy, Early-Onset Severe, LRAT-Related Retinitis Pigmentosa, Juvenile Retinitis Pigmentosa, Juvenile, LRAT-Related	LCA14	613341	Genetic Test Registry
Leber Congenital Amaurosis 15 Retinitis Pigmentosa, Juvenile, TULP1-Related	LCA15	613843	Genetic Test Registry
Leber Congenital Amaurosis 2 Amaurosis Congenita Of Leber II	LCA2	204100	Genetic Test Registry
Leber Congenital Amaurosis 3 Retinitis Pigmentosa, Juvenile, SPATA7-Related	LCA3	604232	Genetic Test Registry
Leber Congenital Amaurosis 4 Cone-Rod Dystrophy, AIPL1-Related Retinitis Pigmentosa, Juvenile Retinitis Pigmentosa, Juvenile, AIPL1-Related	LCA4	604393	Genetic Test Registry
Leber Congenital Amaurosis 5	LCA5	604537	Genetic Test Registry
Leber Congenital Amaurosis 6	LCA6	613826	Genetic Test Registry
Leber Congenital Amaurosis 7	LCA7	613829	Genetic Test Registry
Leber Congenital Amaurosis 8	LCA8	613835	Genetic Test Registry
Macular Degeneration, Age-Related, 2 Macular Degeneration, Senile Maculopathy, Age-Related, 2	ARMD2	153800	Genetic Test Registry
Macular Degeneration, Age-Related, 6	ARMD6	613757	Genetic Test Registry
Macular Degeneration, X-Linked Atrophic		300834	Genetic Test Registry
Macular Dystrophy, Patterned, 1 Butterfly Dystrophy Of Retinal Pigment Epithelium Macular Dystrophy, Butterfly-Shaped Pigmentary Patterned Dystrophy Of Retinal Pigment Epithelium	MDPT1	169150	Genetic Test Registry
Macular Dystrophy, Retinal, 2	MCDR2	608051	Genetic Test Registry
Macular Dystrophy, Vitelliform, 2 Best Disease Best Macular Dystrophy Macular Degeneration, Polymorphic VItelline Macular Dystrophy, Vitelliform Vitelliform Macular Dystrophy Vitelliform Macular Dystrophy, Early-Onset Vitelliform Macular Dystrophy, Juvenile-Onset	VMD2 VMD	153700	Genetic Test Registry
Macular Dystrophy, Vitelliform, 3 Foveomacular Dystrophy, Adult-Onset Foveomacular Dystrophy, Adult-Onset, With Choroidal Neovascularization Macular Dystrophy, Vitelliform, Adult-Onset Vitelliform Macular Dystrophy, Adult-Onset	VMD3 AOFMD AVMD	608161	Genetic Test Registry
McKusick-Kaufman Syndrome Hydrometrocolpos Syndrome Hydrometrocolpos, Postaxial Polydactyly, And Congenital Heart Malformation Kaufman-Mckusick Syndrome	MKKS HMCS	236700	Genetic Test Registry
Meckel Syndrome, Type 1 Dysencephalia Splanchnocystica Gruber Syndrome Meckel Syndrome Meckel-Gruber Syndrome Meckel-Gruber Syndrome, Type 1	MKS1 MES MKS	249000	Genetic Test Registry
Meckel Syndrome, Type 4 Meckel-Gruber Syndrome, Type 4	MKS4	611134	Genetic Test Registry
Microphthalmia, Syndromic 5	MCOPS5	610125	Genetic Test Registry
Newfoundland Rod-Cone Dystrophy	NFRCD	607476	Genetic Test Registry
Night Blindness, Congenital Stationary, Autosomal Dominant 1 Night Blindness, Congenital Stationary, Rhodopsin-Related	CSNBAD1	610445	Genetic Test Registry
Night Blindness, Congenital Stationary, Autosomal Dominant 2 Night Blindness, Congenital Stationary, Rambusch Type	CSNBAD2	163500	Genetic Test Registry
Norrie Disease Atrophia Bulborum Hereditaria Episkopi Blindness Exudative Retinopathy, X-Linked, Included Nd Norrie Disease Protein, Included Norrin, Included Pseudoglioma	NDP EVR2	310600	Genetic Test Registry
Occult Macular Dystrophy	OCMD	613587	Genetic Test Registry
Oguchi Disease 1 Night Blindness, Congenital Stationary, Oguchi Type 1	CSNBO1	258100	Genetic Test Registry
Pigmented Paravenous Chorioretinal Atrophy	PPCRA	172870	Genetic Test Registry
Pituitary Hormone Deficiency, Combined, 6	CPHD6	613986	Genetic Test Registry
Prolonged Electroretinal Response Suppression Bradyopsia	PERRS	608415	Genetic Test Registry
Retinal Cone Dystrophy 3B Cone Dystrophy With Night Blindness And Supernormal Rod Responses, KCNV2-Related Cone Dystrophy With Supernormal Rod Responses	RCD3B CDSRR	610356	Genetic Test Registry
Retinal Cone Dystrophy 4	RCD4	610478	Genetic Test Registry
Retinitis Pigmentosa	RP	268000	Genetic Test Registry
Retinitis Pigmentosa 1	RP1	180100	Genetic Test Registry
Retinitis Pigmentosa 10	RP10	180105	Genetic Test Registry
Retinitis Pigmentosa 11	RP11	600138	Genetic Test Registry
Retinitis Pigmentosa 12 Retinitis Pigmentosa With Or Without Paraarteriolar Preservation Of Retinal Pigment Epithelium RP With Or Without PPRPE RP With Or Without Preserved Paraarteriole Retinal Pigment Epithelium	RP12	600105	Genetic Test Registry
Retinitis Pigmentosa 13	RP13	600059	Genetic Test Registry
Retinitis Pigmentosa 14	RP14	600132	Genetic Test Registry
Retinitis Pigmentosa 17	RP17	600852	Genetic Test Registry
Retinitis Pigmentosa 18	RP18	601414	Genetic Test Registry
Retinitis Pigmentosa 19	RP19	601718	Genetic Test Registry
Retinitis Pigmentosa 2 Retinitis Pigmentosa 2, X-Linked	RP2	312600	Genetic Test Registry
Retinitis Pigmentosa 20	RP20	613794	Genetic Test Registry
Retinitis Pigmentosa 25	RP25	602772	Genetic Test Registry
Retinitis Pigmentosa 26	RP26	608380	Genetic Test Registry
Retinitis Pigmentosa 27 Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type	RP27	613750	Genetic Test Registry
Retinitis Pigmentosa 28	RP28	606068	Genetic Test Registry
Retinitis Pigmentosa 3 Choroidoretinal Degeneration With Retinal Reflex In Heterozygous Women Cone-Rod Degeneration, X-Linked Retinitis Pigmentosa 15	RP3 RP15	300029	Genetic Test Registry
Retinitis Pigmentosa 30	RP30	607921	Genetic Test Registry
Retinitis Pigmentosa 31	RP31	609923	Genetic Test Registry
Retinitis Pigmentosa 33	RP33	610359	Genetic Test Registry
Retinitis Pigmentosa 35	RP35	610282	Genetic Test Registry
Retinitis Pigmentosa 36	RP36	610599	Genetic Test Registry
Retinitis Pigmentosa 37	RP37	611131	Genetic Test Registry
Retinitis Pigmentosa 38	RP38	613862	Genetic Test Registry
Retinitis Pigmentosa 39	RP39	613809	Genetic Test Registry
Retinitis Pigmentosa 4 Retinitis Pigmentosa, Rhodopsin-Related	RP4	613731	Genetic Test Registry
Retinitis Pigmentosa 40	RP40	613801	Genetic Test Registry
Retinitis Pigmentosa 41	RP41	612095	Genetic Test Registry
Retinitis Pigmentosa 42	RP42	612943	Genetic Test Registry
Retinitis Pigmentosa 43	RP43	613810	Genetic Test Registry
Retinitis Pigmentosa 44	RP44	613769	Genetic Test Registry
Retinitis Pigmentosa 45	RP45	613767	Genetic Test Registry
Retinitis Pigmentosa 46	RP46	612572	Genetic Test Registry
Retinitis Pigmentosa 47	RP47	613758	Genetic Test Registry
Retinitis Pigmentosa 48	RP48	613827	Genetic Test Registry
Retinitis Pigmentosa 49	RP49	613756	Genetic Test Registry
Retinitis Pigmentosa 50 Retinitis Pigmentosa, Concentric	RP50	613194	Genetic Test Registry
Retinitis Pigmentosa 51	RP51	613464	Genetic Test Registry
Retinitis Pigmentosa 54	RP54	613428	Genetic Test Registry
Retinitis Pigmentosa 55	RP55	613575	Genetic Test Registry
Retinitis Pigmentosa 56 Maculopathy, IMPG2-Related	RP56	613581	Genetic Test Registry
Retinitis Pigmentosa 57	RP57	613582	Genetic Test Registry
Retinitis Pigmentosa 58	RP58	613617	Genetic Test Registry
Retinitis Pigmentosa 59	RP59	613861	Genetic Test Registry
Retinitis Pigmentosa 60	RP60	613983	Genetic Test Registry
Retinitis Pigmentosa 61	RP61	614180	Genetic Test Registry
Retinitis Pigmentosa 7 Retinitis Pigmentosa , Digenic	RP7	608133	Genetic Test Registry
Retinitis Pigmentosa 9	RP9	180104	Genetic Test Registry
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness		300455	Genetic Test Registry
Retinoschisis 1, X-Linked, Juvenile Retinoschisin, Included Retinoschisis 1 Gene, Included Rs XLRS1	RS1 RS1 GENE	312700	Genetic Test Registry
Senior-Loken Syndrome 6	SLSN6	610189	Genetic Test Registry
Sorsby Fundus Dystrophy Fundus Dystrophy, Pseudoinflammatory, of Sorsby	SFD	136900	Genetic Test Registry
Stargardt Disease 1 Macular Degeneration, Juvenile Macular Dystrophy With Flecks, Type 1	STGD1 STGD	248200	Genetic Test Registry
Stargardt Disease 3 Macular Dystrophy With Flecks, Type 3 Stargardt-Like Macular Dystrophy, Autosomal Dominant	STGD3	600110	Genetic Test Registry
Stargardt Disease 4	STGD4	603786	Genetic Test Registry
Sveinsson Chorioretinal Atrophy Atrophia Areata Helicoidal Peripapillary Chorioretinal Degeneration Peripapillary Chorioretinal Degeneration, Icelandic Type	SCRA AA HPCD	108985	Genetic Test Registry
Usher Syndrome, Type I Retinitis Pigmentosa And Congenital Deafness Usher Syndrome, Type I, French Variety Usher Syndrome, Type IA Usher Syndrome, Type IB	USH1 US1 USH1A USH1B	276900	Genetic Test Registry
Usher Syndrome, Type IC Usher Syndrome, Type I, Acadian Variety	USH1C	276904	Genetic Test Registry
Usher Syndrome, Type ID CDH23/PCDH15, Digenic Usher Syndrome, Type ID/F	USH1D USH1D/F	601067	Genetic Test Registry
Usher Syndrome, Type IF	USH1F	602083	Genetic Test Registry
Usher Syndrome, Type IG	USH1G	606943	Genetic Test Registry
Usher Syndrome, Type IIA	USH2A	276901	Genetic Test Registry
Usher Syndrome, Type IIC	USH2C	605472	Genetic Test Registry
Usher Syndrome, Type IID	USH2D	611383	Genetic Test Registry
Usher Syndrome, Type IIIA Usher Syndrome, Type III	USH3A USH3	276902	Genetic Test Registry
Vitreoretinochoroidopathy Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract Vitreoretinochoroidopathy, Autosomal Dominant Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos	VRCP ADVIRC	193220	Genetic Test Registry

Genes	Symbol	MIM	HGNC
ADAM metallopeptidase domain 9 a disintegrin and metalloproteinase domain 9 (meltrin gamma) cone rod dystrophy 9 metalloproteinase-like, disintegrin-like, and cysteine-rich protein 9 myeloma cell metalloproteinase	ADAM9 CORD9 MCMP MDC9	602713	216
adhesion G protein-coupled receptor V1 G protein-coupled receptor 98 monogenic, audiogenic seizure susceptibility 1 homolog (mouse) very large G protein-coupled receptor 1	ADGRV1 GPR98 MASS1 USH2C VLGR1	602851	17416
ADP ribosylation factor-like 6 ADP ribosylation factor like GTPase 6 ARF-like 6 BBS3 gene	ARL6 RP55	608845	13210
aryl hydrocarbon receptor interacting protein-like 1 aryl hydrocarbon receptor-interacting protein-like 1	AIPL1 LCA4	604392	359
ATP-binding cassette, sub-family A, member 4 ABC transporter, retina-specific ATP-binding cassette transporter, retina-specific ATP-binding cassette, sub-family A (ABC1), member 4 photoreceptor rim protein stargardt disease	ABCA4 ABCR ARMD2 FFM RMP	601691	34
Bardet-Biedl syndrome 1 BBS1 gene	BBS1 FLI23590	209901	966
Bardet-Biedl syndrome 10 BBS10 gene chromosome 12 open reading frame 58	BBS10 C12orf58 FLJ23560	610148	26291
Bardet-Biedl syndrome 12 chromosome 4 open reading frame 24	BBS12 FLJ41559	610683	26648
Bardet-Biedl syndrome 2 BBS2 gene	BBS2 BBS	606151	967
Bardet-Biedl syndrome 4 BBS4 gene	BBS4	600374	969
Bardet-Biedl syndrome 5 BBS5 gene	BBS5 DKFZp762I194	603650	970
Bardet-Biedl syndrome 7 BBS7 gene	BBS7 BBS2L1	607590	18758
Bardet-Biedl syndrome 9 BBS9 gene parathyroid hormone-responsive B1 gene PTH-responsive B1 gene	BBS9 B1 PTHB1	607968	30000
bestrophin 1 best disease vmd2 gene	BEST1 BEST TU15B	607854	12703
C1q and TNF related 5 C1q and tumor necrosis factor related protein 5	C1QTNF5	608752	14344
cadherin-related 23 cadherin related 23 cadherin-like 23 cadherin-related family, member 23 otocadherin	CDH23 CDHR23 DFNB12 USH1D	605516	13733
cadherin-related family member 1 photoreceptor cadherin protocadherin 21	CDHR1 PCDH21 PRCAD	609502	14550
calcium voltage-gated channel auxiliary subunit alpha2delta 4 calcium channel, voltage-dependent, alpha 2/delta subunit 4	CACNA2D4	608171	20202
carbonic anhydrase 4 carbonic anhydrase IV retinitis pigmentosa 17 (autosomal dominant)	CA4 RP17	114760	1375
centrosomal protein 290 antigen identified by monoclonal antibody 3H11 BBS14 gene centrosomal protein 290kDa nephrocystin 6	CEP290 POC3	610142	29021
ceramide kinase-like retinitis pigmentosa 26 (autosomal recessive)	CERKL RP26	608381	21699
CHM, Rab escort protein 1 CHM gene choroideremia (Rab escort protein 1) Rab escort protein 1 Rab geranylgeranyltransferase, component A Rab GG transferase	CHM DXS540 GGTA REP-1 REP1 TCD	300390	1940
chromosome 2 open reading frame 71 FLJ34931 RP54	C2orf71	613425	34383
clarin 1 USH3A gene Usher syndrome 3A	CLRN1 USH3 USH3A	606397	12605
cone-rod homeobox cone-rod homeobox-containing gene	CRX OTX3	602225	2383
crumbs 1, cell polarity complex component crumbs (Drosophila) homolog 1 crumbs homolog 1 (Drosophila)	CRB1 LCA8	604210	2343
cyclic nucleotide gated channel alpha 1 cyclic nucleotide-gated channel, photoreceptor, cGMP-gated, 1 retinal rod cGMP-gated channel, alpha subunit	CNGA1 CNCG CNCG1	123825	2148
cyclic nucleotide gated channel alpha 3 cone photoreceptor cGMP-gated channel cyclic nucleotide-gated channel, olfactory, 3	CNGA3 ACHM2 CNCG3	600053	2150
cyclic nucleotide gated channel beta 1 cyclic nucleotide-gated channel, photoreceptor, cGMP-gated cyclic nucleotide-gated channel, photoreceptor, cGMP-gated, 3-like glutamic acid-rich protein 1 retinal rod cGMP-gated channel, beta subunit retinal rod cGMP-gated channel, gamma subunit	CNGB1 CNCG2 CNCG3L GAR1 GARP	600724	2151
cyclic nucleotide gated channel beta 3 achromatopsia (rod monochromacy) 1 achromatopsia (rod monochromacy) 3	CNGB3 ACHM1 ACHM3 RMCH	262300	2153
dehydrodolichyl diphosphate synthase subunit DEDOL-PP synthase dehydrodolichyl diphosphate synthase	DHDDS HDS	608172	20603
EGF containing fibulin-like extracellular matrix protein 1 EGF-containing fibulin-like extracellular matrix protein 1 fibrillin-like fibulin 3	EFEMP1 DHRD FBLN3 FBNL	601548	3218
ELOVL fatty acid elongase 4 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4 elongation of very long chain fatty acids-like 4	ELOVL4 CT118	605512	14415
eyes shut homolog (Drosophila) EGF-like-domain, multiple 10 EGF-like-domain, multiple 11 retinitis pigmentosa 25 (autosomal recessive) spacemaker	EYS RP25 SPAM	612424	21555
family with sequence similarity 161, member A retinitis pigmentosa 28 (autosomal recessive)	FAM161A RP28	613596	25808
fascin actin-bundling protein 2, retinal fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) fascin, retinal fascin, sea urchin, homolog of, 2	FSCN2 RFSN	607643	3960
frizzled class receptor 4 frizzled homolog 4 (drosophila)	FZD4 CD344	604579	4042
G protein subunit alpha transducin 2 G protein, alpha-transducing 2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 guanine nucleotide-binding protein, alpha-transducing activity polypeptide 2 transducin, cone-specific, alpha polypeptide	GNAT2	139340	4394
guanylate cyclase 2D, retinal guanylate cyclase 2D, membrane (retina-specific) GUCY2E, mouse, homolog of	GUCY2D GUC2D RETGC RETGC1	600179	4689
guanylate cyclase activator 1A chromosome 6 open reading frame 131 guanylate cyclase activator 1A (retina) guanylate cyclase-activating protein, photoreceptor 1 guanylin 1, retina	GUCA1A C6orf131 GCAP1 GUCA GUCA1	600364	4678
guanylate cyclase activator 1B guanylate cyclase activator 1b (retina) guanylate cyclase-activating protein, photoreceptor 2 guanylin 2, retina	GUCA1B GCAP2 GUCA2	602275	4679
inosine monophosphate dehydrogenase 1 IMP (inosine 5'-monophosphate) dehydrogenase 1 IMP (inosine monophosphate) dehydrogenase 1 IMP dehydrogenase 1 IMP dehydrogenase-like 1 inosine-5-prime-monophosphate dehydrogenase, type I leber congenital amaurosis, type XI; lca11, included	IMPDH1 IMPD IMPD1 IMPDHL1 LCA11	146690	6052
interphotoreceptor matrix proteoglycan 2 spacrcan	IMPG2 IPM200	607056	18362
isocitrate dehydrogenase 3 (NAD+) beta isocitrate dehydrogenase, NAD(+)-specific, mitochondrial, beta subunit	IDH3B	604526	5385
kelch-like family member 7 kelch-like 7 (drosophila)	KLHL7	611119	15646
LCA5, lebercilin chromosome 6 open reading frame 152 Leber congenital amaurosis 5 lebercilin	LCA5 C6orf152	611408	31923
LDL receptor related protein 5 low density lipoprotein receptor-related protein 5 low density lipoprotein receptor-related protein 7	LRP5 EVR4	603506	6697
lecithin retinol acyltransferase lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	LRAT LCA14	604863	6685
McKusick-Kaufman syndrome BBS6 gene MKKS gene	MKKS BBS6	604896	7108
Meckel syndrome, type 1	MKS1 BBS13	609883	7121
MER proto-oncogene tyrosine kinase c-mer proto-oncogene tyrosine kinase MER tyrosine kinase protooncogene	MERTK	604705	7027
myosin VIIA myosin VIIA (Usher syndrome 1B (autosomal recessive, severe)) myosin, unconventional, family VII, member A	MYO7A DFNA11 DFNB2 MYU7A USH1B	276903	7606
NDP, norrin cystine knot growth factor atrophia bulborum hereditaria episkopi blindness exudative retinopathy, x-linked, included nd norrie disease norrie disease protein, included norrin (pseudoglioma) norrin, included pseudoglioma	NDP EVR2	300658	7678
neural retina leucine zipper neural retina-specific gene retinal degeneration, autosomal recessive, clumped pigment type, included retinitis pigmentosa 27,	NRL D14S46E RP27	162080	8002
nuclear receptor subfamily 2, group E, member 3 nuclear receptor subfamily 2, group e, member 3 photoreceptor-specific nuclear receptor	NR2E3 PNR	604485	7974
orthodenticle homeobox 2 orthodenticle homolog 2 (drosophila)	OTX2	600037	8522
peripherin 2 peripherin 2 (retinal degeneration, slow) peripherin 2, mouse, homolog of peripherin, photoreceptor type RDS, mouse, homolog of retinal degeneration, slow, mouse, homolog of retinal peripherin	PRPH2 CACD2 RDS TSPAN22	179605	9942
phosphodiesterase 6A phosphodiesterase 6A, cGMP-specific, rod, alpha retinal rod photoreceptor cGMP phosphodiesterase, alpha subunit	PDE6A PDEA	180071	8785
phosphodiesterase 6B phosphodiesterase 6B, cGMP-specific, rod, beta retinal rod photoreceptor cGMP phosphodiesterase, beta subunit	PDE6B PDEB	180072	8786
phosphodiesterase 6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime	PDE6C PDEA2	600827	8787
phosphodiesterase 6G phosphodiesterase 6G, cGMP-specific, rod, gamma retinal rod photoreceptor cGMP phosphodiesterase, gamma subunit	PDE6G RP57	180073	8789
photoreceptor disc component progressive rod-cone degeneration	PRCD	610598	32528
PITPNM family member 3 phosphatidylinositol transfer protein, membrane-associated, 3 PYK2 N-terminal domain-interacting receptor 1	PITPNM3 NIR1	608921	21043
potassium voltage-gated channel modifier subfamily V member 2 potassium channel, subfamily V, member 2	KCNV2 KV8.2	607604	19698
pre-mRNA processing factor 3 PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) PRP3 pre-mRNA processing factor 3 homolog (yeast) retinitis pigmentosa 18 (autosomal dominant)	PRPF3 HPRP3 PRP3 RP18	607301	17348
pre-mRNA processing factor 31 precursor mRNA-processing factor 31, s. cerevisiae, homolog of PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) PRP31 pre-mRNA processing factor 31 homolog (yeast)	PRPF31 PRP31	606419	15446
pre-mRNA processing factor 6 androgen receptor n-terminal domain-transactivating protein 1 chromosome 20 open reading frame 14 PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) PRP6 pre-mRNA processing factor 6 homolog (yeast)	PRPF6 ANT1 C20orf14 PRP6	613979	15860
pre-mRNA processing factor 8 precursor mRNA-processing factor 8, s. cerevisiae, homolog of PRP8 pre-mRNA processing factor 8 homolog (s. cerevisiae) u5 snRNP-specific protein, 220-kd	PRPF8 PRP8 PRPC8	607300	17340
prominin 1 CD133 antigen prominin, mouse, homolog-like 1	PROM1 CD133 PROML1	604365	9454
protocadherin-related 15 deafness, autosomal recessive 23 protocadherin 15	PCDH15 DFNB23 USH1F	605514	14674
regulating synaptic membrane exocytosis 1 protein regulating synaptic membrane exocytosis 1 RAB3 interacting protein 2	RIMS1 CORD7 RAB3IP2	606629	17282
regulator of G protein signaling 9 regulator of G-protein signalling 9	RGS9	604067	10004
retina and anterior neural fold homeobox 2 Q50-type retinal homeobox retina and anterior neural fold homeobox like 1	RAX2 QRX RAXL1	610362	18286
retinal degeneration 3 chromosome 1 open reading frame 36 retinal degeneration 3, mouse, homolog of	RD3 C1ORF36	180040	19689
retinal G protein coupled receptor RPE-retinal G protein-coupled receptor	RGR	600342	9990
retinal outer segment membrane protein 1	ROM1 ROSP1	608133	10254
retinaldehyde binding protein 1 cellular retinaldehyde-binding protein	RLBP1 CRALBP	180090	10024
retinitis pigmentosa GTPase regulator retinitis pigmentosa gtpase regulator	RPGR COD1 CORDX1 CRD RP15 RP3	312610	10295
retinol binding protein 3 interstitial retinol-binding protein retinol binding protein 3, interstitial retinol-binding protein 3, interstitial retinol-binding protein, interstitial	RBP3 IRBP RBPI	180290	9921
retinol dehydrogenase 12 (all-trans/9-cis/11-cis) retinol dehydrogenase 12 (all-trans and 9-cis)	RDH12	608830	19977
retinol dehydrogenase 5 retinol dehydrogenase 5 (11-cis and 9-cis) retinol dehydrogenase 5 (11-cis/9-cis) retinol dehydrogenase, 11-cis	RDH5 RDH1	601617	9940
retinoschisin 1 retinoschisin retinoschisis (x-linked, juvenile) 1 retinoschisis 1 gene, included retinoschisis 1, x-linked, juvenile	RS1 RS RS1 GENE XLRS1	300839	10457
rhodopsin opsin 2 retinitis pigmentosa 4, included; rp4, included retinitis pigmentosa, rhodopsin-related, included	RHO OPN2	180380	10012
RP1 like 1 retinitis pigmentosa 1-like 1 RP1-like protein 1	RP1L1	608581	15946
RP1, axonemal microtubule associated oxygen-regulated photoreceptor protein 1 retinitis pigmentosa 1 (autosomal dominant) RP1 gene	RP1 ORP1	603937	10263
RP2, ARL3 GTPase activating protein retinitis pigmentosa 2 (X-linked recessive) RP2 gene	RP2	300757	10274
RP9, pre-mRNA splicing factor PIM1-associated protein, mouse, homolog of retinitis pigmentosa 9 (autosomal dominant) RP9 gene	RP9 PAP1	607331	10288
RPE65, retinoid isomerohydrolase retinal pigment epithelium-specific protein 65kDa	RPE65 LCA2 RD12	180069	10294
RPGR interacting protein 1 retinitis pigmentosa GTPase regulator interacting protein 1	RPGRIP1 RPGRIP	605446	13436
S-antigen visual arrestin arrestin rod arrestin S-antigen S-antigen; retina and pineal gland (arrestin) S-arrestin	SAG	181031	10521
semaphorin 4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A semaphorin B	SEMA4A SEMAB SEMB	607292	10729
small nuclear ribonucleoprotein U5, subunit 200 activating signal cointegrator 1 complex subunit 3-like 1 BRR2, yeast, homolog of retinitis pigmentosa 33 (autosomal dominant) small nuclear ribonucleoprotein 200kDa (U5) small nuclear ribonucleoprotein, 200kDa U5 snRNP-specific protein, 200kDa	SNRNP200 ASCC3L1 RP33 U5-200kDa	601664	30859
spermatogenesis associated 7 leber congenital amaurosis 3	SPATA7 HSD3 LCA3	609868	20423
TEA domain transcription factor 1 atrophia areata, peripapillary chorioretinal degeneration tea domain family member 1 TEA domain family member 1 (SV40 transcriptional enhancer factor) transcription factor 13 transcriptional enhancer factor 1	TEAD1 AA TCF13 TEF1	189967	11714
tetratricopeptide repeat domain 8 BBS8 gene	TTC8 RP51	608132	20087
TIMP metallopeptidase inhibitor 3 tissue inhibitor of metalloproteinase 3 tissue inhibitor of metalloproteinase 3 (sorsby fundus dystrophy, pseudoinflammatory)	TIMP3 SFD	188826	11822
TOP1 binding arginine/serine-rich protein retinitis pigmentosa 31 (autosomal dominant) topoisomerase I binding, arginine/serine-rich topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	TOPORS RP31	609507	21653
tripartite motif containing 32 BBS11 gene limb girdle muscular dystrophy 2H (autosomal recessive) TAT-interacting protein, 72-kDa tripartite motif-containing 32	TRIM32 LGMD2H	602290	16380
tubby like protein 1	TULP1 RP14	602280	12423
unc-119 lipid binding chaperone human retinal gene 4 unc-119 homolog (C. elegans) unc119 (C.elegans) homolog UNC119, C. elegans, homolog of	UNC119 POC7A	604011	12565
USH1 protein network component harmonin deafness, autosomal recessive 18 harmonin PDZ domain-containing protein, 73-kDa Usher syndrome 1C (autosomal recessive, severe)	USH1C DFNB18 PDZ73	605242	12597
USH1 protein network component sans scaffold protein containing ankyrin repeats and SAM domain USH1G gene Usher syndrome 1G (autosomal recessive)	USH1G SANS	607696	16356
usherin USH2A gene Usher syndrome 2A (autosomal recessive, mild)	USH2A US2 USH2	608400	12601
whirlin CASK-interacting protein, 98-kDa deafness, autosomal recessive 31	WHRN CIP98 DFNB31 USH2D	607928	16361
zinc finger protein 513	ZNF513	613598	26498

Testing Criteria & Gene Dossiers

Testing criteria	Retinal Degeneration Disorders 105 Gene Panel

Gene dossier	Retinal Degeneration Disorders 105 Gene Panel Manchester RGC

Specialties

Specialties	Clinical Genetics Ophthalmology, Adult Ophthalmology, Paediatric