qGenEx® EV. Panell patologies de la Visió

Gene	Median coverage	% covered > 10x	% covered > 20x	Associated Phenotype description and OMIM disease ID
ABCA4	112.8	1	0.98	Cone-rod dystrophy 3	604116
ABCA4	112.8	1	0.98	Fundus flavimaculatus,	248200
ABCA4	112.8	1	0.98	Retinal dystrophy, early-onset severe,	248200
ABCA4	112.8	1	0.98	Retinitis pigmentosa 19	601718
ABCA4	112.8	1	0.98	Stargardt disease 1	248200
ABCA4	112.8	1	0.98	{Macular degeneration, age-related, 2},	153800
ABCC6	94.8	0.93	0.91	Arterial calcification, generalized, of infancy, 2	614473
ABCC6	94.8	0.93	0.91	Pseudoxanthoma elasticum,	264800
ABCC6	94.8	0.93	0.91	Pseudoxanthoma elasticum, forme fruste,	177850
ABHD12	93.7	0.89	0.78	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract,	612674
ACBD5	150.6	0.96	0.95	No OMIM phenotype	612674
ACBD5	150.6	0.96	0.95	Thrombocytopaenia (Punzo -2010 J Thromb Haemost 8,2085)	612674
ACBD5	150.6	0.96	0.95	?Cone-rod dystrophy (Abu-Safieh -2013 Genome Res 23,236)	612674
ADAM9	149.9	0.98	0.93	Cone-rod dystrophy 9	612775
ADAMTS18	147.5	0.98	0.97	Microcornea, myopic chorioretinal atrophy, and telecanthus,	615458
ADIPOR1	88.4	1	0.94	No OMIM phenotype	615458
ADIPOR1	88.4	1	0.94	syndromic retinitis pigmentosa (Xy -2016 Hum Mutat 37(3):246-249	615458
AGBL1	126.5	1	1	Corneal dystrophy, Fuchs endothelial, 8	615523
AGBL5	98.5	1	0.99	Retinitis pigmentosa 75,	617023
AGK	115.1	0.99	0.94	Cataract 38 autosomal recessive,	614691
AGK	115.1	0.99	0.94	Sengers syndrome,	212350
AHI1	133	0.99	0.93	Joubert syndrome-3,	608629
AIPL1	111.6	1	1	Cone-rod dystrophy,	604393
AIPL1	111.6	1	1	Leber congenital amaurosis 4	604393
AIPL1	111.6	1	1	Retinitis pigmentosa, juvenile,	604393
ALMS1	167.8	0.99	0.99	Alstrom syndrome,	203800
AP3B1	93.9	0.99	0.92	Hermansky-Pudlak syndrome 2	608233
APOPT1	62.9	0.87	0.82	Mitochondrial complex IV deficiency,	220110
ARL13B	78.8	0.99	0.81	Joubert syndrome 8	612291
ARL2BP	72.8	0.78	0.71	Retinitis pigmentosa with or without situs inversus,	615434
ARL3	84.6	0.93	0.86	No OMIM phenotype	615434
ARL3	84.6	0.93	0.86	?Retinitis pigmentosa (Strom -2016 PLoS One 11)	615434
ARL6	94.9	0.99	0.96	Bardet-Biedl syndrome 3	600151
ARL6	94.9	0.99	0.96	?Retinitis pigmentosa 55	613575
ARL6	94.9	0.99	0.96	{Bardet-Biedl syndrome 1 modifier of},	209900
ASPH	110.5	0.99	0.94	Traboulsi syndrome,	601552
ATF6	134.8	1	0.98	Achromatopsia 7	616517
B3GALTL	100.3	0.95	0.94	Peters-plus syndrome,	261540
BBIP1	121	0.99	0.87	?Bardet-Biedl syndrome 18	615995
BBS1	133.8	1	1	Bardet-Biedl syndrome 1	209900
BBS10	160.2	1	0.99	Bardet-Biedl syndrome 10	615987
BBS12	196.3	1	1	Bardet-Biedl syndrome 12	615989
BBS2	173	1	0.98	Bardet-Biedl syndrome 2	615981
BBS2	173	1	0.98	Retinitis pigmentosa 74	616562
BBS4	136.1	0.99	0.95	Bardet-Biedl syndrome 4	615982
BBS5	103.3	0.97	0.91	Bardet-Biedl syndrome 5	615983
BBS7	121.3	0.96	0.9	Bardet-Biedl syndrome 7	615984
BBS9	105.1	0.94	0.93	Bardet-Biedl syndrome 9	615986
BCOR	71	0.98	0.95	Microphthalmia, syndromic 2	300166
BEST1	111.7	0.99	0.96	Bestrophinopathy, autosomal recessive,	611809
BEST1	111.7	0.99	0.96	Macular dystrophy, vitelliform, 2	153700
BEST1	111.7	0.99	0.96	Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma,	193220
BEST1	111.7	0.99	0.96	Retinitis pigmentosa, concentric,	613194
BEST1	111.7	0.99	0.96	Retinitis pigmentosa-50,	613194
BEST1	111.7	0.99	0.96	Vitreoretinochoroidopathy,	193220
BFSP1	90.6	0.94	0.89	Cataract 33	611391
BFSP2	80.3	0.98	0.94	Cataract 12 multiple types,	611597
BLOC1S3	38.5	0.99	0.84	Hermansky-Pudlak syndrome 8	614077
BLOC1S6	89.9	0.99	0.84	Hermansky-pudlak syndrome 9	614171
BMP4	120.8	1	0.98	Microphthalmia, syndromic 6	607932
BMP4	120.8	1	0.98	Orofacial cleft 11	600625
C10orf11	135.8	0.99	0.99	Albinism, oculocutaneous, type VII,	615179
C12orf65	74.3	0.99	0.97	Combined oxidative phosphorylation deficiency 7	613559
C12orf65	74.3	0.99	0.97	Spastic paraplegia 55 autosomal recessive,	615035
C19orf12	78.4	1	0.96	Neurodegeneration with brain iron accumulation 4	614298
C19orf12	78.4	1	0.96	?Spastic paraplegia 43 autosomal recessive,	615043
C1QTNF5	141.5	0.78	0.6	Retinal degeneration, late-onset, autosomal dominant,	605670
C21orf2	81.5	0.99	0.96	No OMIM disease	605670
C21orf2	81.5	0.99	0.96	Retinal dystrophy,early-onset with macular staphyloma (Khan -2015 Br J Ophtalmol 99,1725)	605670
C21orf2	81.5	0.99	0.96	Cone-rod dystrophy (Abu-Safieh -2013 Genome Res 23,236)	605670
C21orf2	81.5	0.99	0.96	Jeune syndrome (Wheway -2015 Nat Cell Biol 17,1074)	605670
C2orf71	116.9	1	0.99	Retinitis pigmentosa 54	613428
C5orf42	119.9	0.95	0.91	Joubert syndrome 17	614615
C5orf42	119.9	0.95	0.91	Orofaciodigital syndrome VI,	277170
C8orf37	116.7	1	0.99	Cone-rod dystrophy 16	614500
C8orf37	116.7	1	0.99	Retinitis pigmentosa 64	614500
CA4	133.6	1	0.97	Retinitis pigmentosa 17	600852
CABP4	90.2	0.96	0.92	Cone-rod synaptic disorder, congenital nonprogressive,	610427
CACNA1F	62.7	0.98	0.91	Aland Island eye disease,	300600
CACNA1F	62.7	0.98	0.91	Cone-rod dystrophy, X-linked, 3	300476
CACNA1F	62.7	0.98	0.91	Night blindness, congenital stationary (incomplete), 2A, X-linked,	300071
CACNA2D4	100.4	0.98	0.97	Retinal cone dystrophy 4	610478
CAPN5	142.6	1	0.99	Vitreoretinopathy, neovascular inflammatory,	193235
CC2D2A	121.8	0.99	0.94	COACH syndrome,	216360
CC2D2A	121.8	0.99	0.94	Joubert syndrome 9	612285
CC2D2A	121.8	0.99	0.94	Meckel syndrome 6	612284
CCDC41	103.8	0.99	0.96	Nephronophthisis 18	615862
CDH23	183	1	0.99	Deafness, autosomal recessive 12	601386
CDH23	183	1	0.99	Usher syndrome, type 1D,	601067
CDH23	183	1	0.99	Usher syndrome, type 1D/F digenic,	601067
CDH3	132.2	1	0.97	Ectodermal dysplasia, ectrodactyly, and macular dystrophy,	225280
CDH3	132.2	1	0.97	Hypotrichosis, congenital, with juvenile macular dystrophy,	601553
CDHR1	141.1	1	0.99	Cone-rod dystrophy 15	613660
CDHR1	141.1	1	0.99	Retinitis pigmentosa 65	613660
CEP164	75.2	0.99	0.94	Nephronophthisis 15	614845
CEP250	84.5	1	0.97	No OMIM phenotype	614845
CEP250	84.5	1	0.97	Usher syndrome,atypical (Khateb -2014 J Med Genet 51,460)	614845
CEP250	84.5	1	0.97	?Miscarriage, recurrent (Filges -2014 Mol Hum Reprod epub,epub)	614845
CEP290	69.5	0.89	0.76	Joubert syndrome 5	610188
CEP290	69.5	0.89	0.76	Leber congenital amaurosis 10	611755
CEP290	69.5	0.89	0.76	Meckel syndrome 4	611134
CEP290	69.5	0.89	0.76	Senior-Loken syndrome 6	610189
CEP290	69.5	0.89	0.76	?Bardet-Biedl syndrome 14	615991
CEP41	83.4	0.97	0.91	Joubert syndrome 15	614464
CEP78	119.3	0.98	0.94	No OMIM phenotype	614464
CEP78	119.3	0.98	0.94	Usher syndrome (Fu et al, -2016 J Med Genet)	614464
CERKL	108.2	0.99	0.95	Retinitis pigmentosa 26	608380
CFH	176.8	0.98	0.95	Basal laminar drusen,	126700
CFH	176.8	0.98	0.95	Complement factor H deficiency,	609814
CFH	176.8	0.98	0.95	{Hemolytic uremic syndrome, atypical, susceptibility to, 1},	235400
CFH	176.8	0.98	0.95	{Macular degeneration, age-related, 4},	610698
CHM	66.7	0.9	0.77	Choroideremia,	303100
CHMP4B	125.3	0.99	0.96	Cataract 31 multiple types,	605387
CHST6	280	1	1	Macular corneal dystrophy,	217800
CIB2	188.6	1	1	Deafness, autosomal recessive 48	609439
CIB2	188.6	1	1	Usher syndrome, type IJ,	614869
CLN3	107.2	0.99	0.97	Ceroid lipofuscinosis, neuronal, 3	204200
CLN5	144.8	0.97	0.91	Ceroid lipofuscinosis, neuronal, 5	256731
CLN6	119.2	1	0.92	Ceroid lipofuscinosis, neuronal, 6	601780
CLN6	119.2	1	0.92	Ceroid lipofuscinosis, neuronal, Kufs type, adult onset,	204300
CLN8	206.6	1	1	Ceroid lipofuscinosis, neuronal, 8	600143
CLN8	206.6	1	1	Ceroid lipofuscinosis, neuronal, 8 Northern epilepsy variant,	610003
CLRN1	141.9	1	1	Retinitis pigmentosa 61	614180
CLRN1	141.9	1	1	Usher syndrome, type 3A,	276902
CLUAP1	133.1	1	1	No OMIM phenotype	276902
CLUAP1	133.1	1	1	Leber congenital amaurosis (Soens et al, -2016 Genet, Med,)	276902
CNGA1	128.2	0.84	0.84	Retinitis pigmentosa 49	613756
CNGA3	149.8	0.99	0.98	Achromatopsia-2,	216900
CNGB1	91.5	0.95	0.92	Retinitis pigmentosa 45	613767
CNGB3	104.7	0.91	0.86	Achromatopsia-3,	262300
CNGB3	104.7	0.91	0.86	Macular degeneration, juvenile,	248200
CNNM4	174.3	0.98	0.97	Jalili syndrome,	217080
COL11A1	85.5	0.92	0.83	Fibrochondrogenesis 1	228520
COL11A1	85.5	0.92	0.83	Marshall syndrome,	154780
COL11A1	85.5	0.92	0.83	Stickler syndrome, type II,	604841
COL11A1	85.5	0.92	0.83	{Lumbar disc herniation, susceptibility to},	603932
COL11A2	10.9	0.46	0.09	Deafness, autosomal dominant 13	601868
COL11A2	10.9	0.46	0.09	Deafness, autosomal recessive 53	609706
COL11A2	10.9	0.46	0.09	Fibrochondrogenesis 2	614524
COL11A2	10.9	0.46	0.09	Otospondylomegaepiphyseal dysplasia,	215150
COL11A2	10.9	0.46	0.09	Stickler syndrome, type III,	184840
COL11A2	10.9	0.46	0.09	Weissenbacher-Zweymuller syndrome,	277610
COL18A1	66.8	0.9	0.83	Knobloch syndrome, type 1	267750
COL2A1	93.5	0.99	0.96	Achondrogenesis, type II or hypochondrogenesis,	200610
COL2A1	93.5	0.99	0.96	Avascular necrosis of the femoral head,	608805
COL2A1	93.5	0.99	0.96	Czech dysplasia,	609162
COL2A1	93.5	0.99	0.96	Epiphyseal dysplasia, multiple, with myopia and deafness,	132450
COL2A1	93.5	0.99	0.96	Kniest dysplasia,	156550
COL2A1	93.5	0.99	0.96	Legg-Calve-Perthes disease,	150600
COL2A1	93.5	0.99	0.96	Osteoarthritis with mild chondrodysplasia,	604864
COL2A1	93.5	0.99	0.96	Otospondylomegaepiphyseal dysplasia,	215150
COL2A1	93.5	0.99	0.96	Platyspondylic skeletal dysplasia, Torrance type,	151210
COL2A1	93.5	0.99	0.96	SED congenita,	183900
COL2A1	93.5	0.99	0.96	SMED Strudwick type,	184250
COL2A1	93.5	0.99	0.96	Spondyloepiphyseal dysplasia, Stanescu type,	616583
COL2A1	93.5	0.99	0.96	Spondyloperipheral dysplasia,	271700
COL2A1	93.5	0.99	0.96	Stickler sydrome, type I, nonsyndromic ocular,	609508
COL2A1	93.5	0.99	0.96	Stickler syndrome, type I,	108300
COL2A1	93.5	0.99	0.96	Vitreoretinopathy with phalangeal epiphyseal dysplasia	108300
COL8A2	21.8	0.76	0.53	Corneal dystrophy, Fuchs endothelial, 1	136800
COL8A2	21.8	0.76	0.53	Corneal dystrophy, posterior polymorphous 2	609140
COL9A1	107.6	0.99	0.95	Stickler syndrome, type IV,	614134
COL9A1	107.6	0.99	0.95	/?Epiphyseal dysplasia, multiple, 6	614135
COL9A2	55.5	0.98	0.86	Epiphyseal dysplasia, multiple, 2	600204
COL9A2	55.5	0.98	0.86	?Stickler syndrome, type V,	614284
COL9A2	55.5	0.98	0.86	{Intervertebral disc disease, susceptibility to},	603932
CRB1	199.9	1	0.99	Leber congenital amaurosis 8	613835
CRB1	199.9	1	0.99	Pigmented paravenous chorioretinal atrophy,	172870
CRB1	199.9	1	0.99	Retinitis pigmentosa-12, autosomal recessive,	600105
CRX	91.4	1	0.98	Cone-rod retinal dystrophy-2,	120970
CRX	91.4	1	0.98	Leber congenital amaurosis 7	613829
CRYAA	121.6	0.84	0.82	Cataract 9 multiple types,	604219
CRYAB	120.2	0.97	0.95	Cardiomyopathy, dilated, 1II,	615184
CRYAB	120.2	0.97	0.95	Cataract 16 multiple types,	613763
CRYAB	120.2	0.97	0.95	Myopathy, myofibrillar, 2	608810
CRYAB	120.2	0.97	0.95	Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related,	613869
CRYBA1	130.8	1	1	Cataract 10 multiple types,	600881
CRYBA2	126	1	1	?Cataract 42	115900
CRYBA4	98.4	1	0.97	Cataract 23	610425
CRYBB1	108.3	1	0.99	Cataract 17 multiple types,	611544
CRYBB2	152	1	1	Cataract 3 multiple types,	601547
CRYBB3	134.1	1	0.98	Cataract 22 autosomal recessive,	609741
CRYGB	95	1	0.95	Cataract 39 multiple types, autosomal dominant,	615188
CRYGC	114.1	1	1	Cataract 2 multiple types,	604307
CRYGD	89	1	1	Cataract 4 multiple types,	115700
CRYGS	130.9	0.95	0.91	Cataract 20 multiple types,	116100
CSPP1	99.3	0.99	0.92	Joubert syndrome 21	615636
CTDP1	93.2	0.9	0.85	Congenital cataracts, facial dysmorphism, and neuropathy,	604168
CTNNA1	127.1	1	0.98	Macular dystrophy,patterned,	608970
CTNNA1	127.1	1	0.98	Gastric cancer, diffuse (Majewski -2012 J Pathol epub)	608970
CTSD	152.8	0.98	0.94	Ceroid lipofuscinosis, neuronal, 10	610127
CYP1B1	106.3	1	0.99	Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset,	231300
CYP1B1	106.3	1	0.99	Peters anomaly,	604229
CYP4V2	157	1	0.98	Bietti crystalline corneoretinal dystrophy,	210370
DCN	141.1	0.95	0.94	Corneal dystrophy, congenital stromal,	610048
DFNB31	102.8	1	0.97	Deafness, autosomal recessive 31	607084
DFNB31	102.8	1	0.97	Usher syndrome, type 2D,	611383
DHDDS	84.7	0.95	0.93	Retinitis pigmentosa 59	613861
DHX38	122.8	1	0.98	No OMIM phenotype	613861
DHX38	122.8	1	0.98	Retinitis pigmentosa,early-onset with macular coloboma (Ajmal -2014 J Med Genet 51,444)	613861
DKC1	77.4	0.99	0.92	Dyskeratosis congenita, X-linked,	305000
DRAM2	144.9	1	1	Cone-rod dystrophy 21	616502
DTNBP1	100.5	1	0.95	Hermansky-Pudlak syndrome 7	614076
EFEMP1	176.8	1	0.98	Doyne honeycomb degeneration of retina,	126600
ELOVL4	77.5	1	0.98	Ichthyosis, spastic quadriplegia, and mental retardation,	614457
ELOVL4	77.5	1	0.98	Stargardt disease 3	600110
ELOVL4	77.5	1	0.98	?Spinocerebellar ataxia 34	133190
EPG5	123.6	0.99	0.94	Vici syndrome,	242840
EPHA2	170.6	0.97	0.97	Cataract 6 multiple types,	116600
EXOSC2	135.8	1	1	No OMIM phenotype	116600
EXOSC2	135.8	1	1	Syndromic retinitis pigmentosa (Di Donato -2016 J Med Genet 53,419)	116600
EYA1	139.1	1	0.99	Anterior segment anomalies with or without cataract,	113650
EYA1	139.1	1	0.99	Branchiootic syndrome 1	602588
EYA1	139.1	1	0.99	Branchiootorenal syndrome 1 with or without cataracts,	113650
EYA1	139.1	1	0.99	?Otofaciocervical syndrome,	166780
EYS	143.4	0.98	0.94	Retinitis pigmentosa 25	602772
FA2H	87.6	0.93	0.81	Spastic paraplegia 35 autosomal recessive,	612319
FAM161A	110.4	0.99	0.93	Retinitis pigmentosa 28	606068
FLVCR1	121.4	0.99	0.97	Ataxia, posterior column, with retinitis pigmentosa,	609033
FOXC1	31.1	0.95	0.72	Axenfeld-Rieger syndrome, type 3	602482
FOXC1	31.1	0.95	0.72	Iridogoniodysgenesis, type 1	601631
FOXC1	31.1	0.95	0.72	Iris hypoplasia and glaucoma,	601631
FOXC1	31.1	0.95	0.72	Rieger or Axenfeld anomalies,	602482
FOXE3	9.3	0.49	0.33	Anterior segment mesenchymal dysgenesis,	107250
FOXE3	9.3	0.49	0.33	Aphakia, congenital primary,	610256
FRMD7	79.4	0.99	0.93	Nystagmus 1 congenital, X-linked,	310700
FRMD7	79.4	0.99	0.93	Nystagmus, infantile periodic alternating, X-linked,	310700
FTL	104.5	0.99	0.82	Hyperferritinemia-cataract syndrome,	600886
FTL	104.5	0.99	0.82	L-ferritin deficiency, dominant and recessive,	615604
FTL	104.5	0.99	0.82	Neurodegeneration with brain iron accumulation 3	606159
FYCO1	114.3	1	0.99	Cataract 18 autosomal recessive,	610019
FZD4	207.1	1	0.98	Exudative vitreoretinopathy 1	133780
FZD4	207.1	1	0.98	Retinopathy of prematurity,	133780
GALK1	88.7	0.96	0.91	Galactokinase deficiency with cataracts,	230200
GALT	141.5	1	0.99	Galactosemia,	230400
GCNT2	164.9	1	1	Adult i phenotype without cataract,	110800
GCNT2	164.9	1	1	Cataract 13 with adult i phenotype,	116700
GCNT2	164.9	1	1	[Blood group, Ii],	110800
GDF3	119.6	1	1	Klippel-Feil syndrome 3 autosomal dominant,	613702
GDF3	119.6	1	1	Microphthalmia with coloboma 6	613703
GDF3	119.6	1	1	Microphthalmia, isolated 7	613704
GDF6	56.8	0.93	0.82	Klippel-Feil syndrome 1 autosomal dominant,	118100
GDF6	56.8	0.93	0.82	Leber congenital amaurosis 17	615360
GDF6	56.8	0.93	0.82	Microphthalmia with coloboma 6 digenic,	613703
GDF6	56.8	0.93	0.82	Microphthalmia, isolated 4	613094
GFER	69.7	0.98	0.71	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,	613094
GFER	69.7	0.98	0.71	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,	613076
GJA1	205.3	1	1	Atrioventricular septal defect 3	600309
GJA1	205.3	1	1	Craniometaphyseal dysplasia, autosomal recessive,	218400
GJA1	205.3	1	1	Erythrokeratodermia variabilis et progressiva,	133200
GJA1	205.3	1	1	Hypoplastic left heart syndrome 1	241550
GJA1	205.3	1	1	Oculodentodigital dysplasia,	164200
GJA1	205.3	1	1	Oculodentodigital dysplasia, autosomal recessive,	257850
GJA1	205.3	1	1	Palmoplantar keratoderma with congenital alopecia,	104100
GJA1	205.3	1	1	Syndactyly, type III,	186100
GJA3	152.3	1	1	Cataract 14 multiple types,	601885
GJA8	136.5	1	1	Cataract 1 multiple types,	116200
GNAT1	153.1	1	1	Night blindness, congenital stationary, autosomal dominant 3	610444
GNAT1	153.1	1	1	?Night blindness, congenital stationary, type 1G,	616389
GNAT2	142.9	1	0.98	Achromatopsia-4,	613856
GNB3	193.2	1	1	Night blindness, congenital stationary, type 1H,	617024
GNB3	193.2	1	1	{Hypertension, essential, susceptibility to},	145500
GNPTG	125.2	0.9	0.87	Mucolipidosis III gamma,	252605
GPR143	39.9	0.9	0.67	Nystagmus 6 congenital, X-linked,	300814
GPR143	39.9	0.9	0.67	Ocular albinism, type I, Nettleship-Falls type,	300500
GPR179	119.3	1	0.97	Night blindness, congenital stationary (complete), 1E, autosomal recessive,	614565
GPR98	145.8	0.99	0.94	Usher syndrome, type 2C,	605472
GPR98	145.8	0.99	0.94	Usher syndrome, type 2C, GPR98/PDZD7 digenic,	605472
GPR98	145.8	0.99	0.94	?Febrile seizures, familial, 4	604352
GRK1	100.1	1	1	Oguchi disease-2,	613411
GRM6	139.7	0.93	0.83	Night blindness, congenital stationary (complete), 1B, autosomal recessive,	257270
GRN	171.5	1	1	Aphasia, primary progressive,	607485
GRN	171.5	1	1	Ceroid lipofuscinosis, neuronal, 11	614706
GRN	171.5	1	1	Frontotemporal lobar degeneration with ubiquitin-positive inclusions,	607485
GSN	109	0.91	0.87	Amyloidosis, Finnish type,	105120
GUCA1A	147.4	1	1	Cone dystrophy-3,	602093
GUCA1A	147.4	1	1	Cone-rod dystrophy 14	602093
GUCA1B	130.1	1	0.98	Retinitis pigmentosa 48	613827
GUCY2D	79.9	0.96	0.84	Cone-rod dystrophy 6	601777
GUCY2D	79.9	0.96	0.84	Leber congenital amaurosis 1	204000
HARS	143.6	1	1	Charcot-Marie-Tooth disease, axonal, type 2W,	616625
HARS	143.6	1	1	Usher syndrome type 3B,	614504
HCCS	63.8	0.99	0.92	Linear skin defects with multiple congenital anomalies 1	309801
HGSNAT	95	0.81	0.81	Mucopolysaccharidosis type IIIC (Sanfilippo C),	252930
HGSNAT	95	0.81	0.81	Retinitis pigmentosa 73	616544
HK1	134.8	1	0.99	Hemolytic anemia due to hexokinase deficiency,	235700
HK1	134.8	1	0.99	Neuropathy, hereditary motor and sensory, Russe type,	605285
HK1	134.8	1	0.99	Retinitis pigmentosa (Wang -2014 Invest Ophthalmol Vis Sci 55,7159)	605285
HMX1	19.6	0.63	0.39	Oculoauricular syndrome,	612109
HPS1	102.9	1	0.98	Hermansky-Pudlak syndrome 1	203300
HPS4	130.4	1	0.98	Hermansky-Pudlak syndrome 4	614073
HPS5	137.7	0.99	0.98	Hermansky-Pudlak syndrome 5	614074
HPS6	100.4	1	0.92	Hermansky-Pudlak syndrome 6	614075
HSF4	89.4	0.96	0.87	Cataract 5 multiple types,	116800
IDH3B	166.6	1	1	Retinitis pigmentosa 46	612572
IFT140	105.2	0.99	0.96	Short-rib thoracic dysplasia 9 with or without polydactyly,	266920
IFT172	108.6	0.99	0.97	Retinitis pigmentosa 71	616394
IFT172	108.6	0.99	0.97	Short-rib thoracic dysplasia 10 with or without polydactyly,	615630
IFT27	106.4	1	0.99	?Bardet-Biedl syndrome 19	615996
IMPDH1	47.6	0.91	0.74	Leber congenital amaurosis 11	613837
IMPDH1	47.6	0.91	0.74	Retinitis pigmentosa 10	180105
IMPG1	98.9	1	0.95	Macular dystrophy, vitelliform, 4	616151
IMPG2	166.8	1	0.97	Macular dystrophy, vitelliform, 5	616152
IMPG2	166.8	1	0.97	Retinitis pigmentosa 56	613581
INPP5E	83.9	0.96	0.88	Joubert syndrome 1	213300
INPP5E	83.9	0.96	0.88	Mental retardation, truncal obesity, retinal dystrophy, and micropenis,	610156
INVS	153.4	1	0.99	Nephronophthisis 2 infantile,	602088
IQCB1	96.9	0.78	0.74	Senior-Loken syndrome 5	609254
JAG1	139.8	1	0.97	Alagille syndrome,	118450
JAG1	139.8	1	0.97	Tetralogy of Fallot,	187500
JAG1	139.8	1	0.97	?Deafness, congenital heart defects, and posterior embryotoxon	187500
JAM3	136.4	1	0.99	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts,	613730
KCNJ13	194	1	0.98	Leber congenital amaurosis 16	614186
KCNJ13	194	1	0.98	Snowflake vitreoretinal degeneration,	193230
KCNV2	120	1	1	Retinal cone dystrophy 3B,	610356
KERA	185.9	1	1	Cornea plana congenita, recessive,	217300
KIF11	76.6	0.97	0.95	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation,	152950
KIF7	70	0.91	0.84	Acrocallosal syndrome,	200990
KIF7	70	0.91	0.84	Joubert syndrome 12	200990
KIF7	70	0.91	0.84	?Al-Gazali-Bakalinova syndrome,	607131
KIF7	70	0.91	0.84	?Hydrolethalus syndrome 2	614120
KIZ	150.4	0.98	0.94	Retinitis pigmentosa 69	615780
KLHL7	139.1	0.99	0.98	Cold induced sweating syndrome 3	617055
KLHL7	139.1	0.99	0.98	Retinitis pigmentosa 42	612943
KRT12	88	0.95	0.92	Meesmann corneal dystrophy,	122100
KRT3	90.9	1	0.96	Meesmann corneal dystrophy,	122100
LAMA1	134.2	0.99	0.98	Poretti-Boltshauser syndrome,	615960
LCA5	130	0.95	0.94	Leber congenital amaurosis 5	604537
LEMD2	60.2	0.99	0.75	Cataract 46 juvenile-onset,	212500
LEPREL1	87.8	0.93	0.87	Myopia, high, with cataract and vitreoretinal degeneration,	614292
LIM2	88.4	1	0.99	Cataract 19 multiple types,	615277
LRAT	285.3	1	1	Leber congenital amaurosis 14	613341
LRAT	285.3	1	1	Retinal dystrophy, early-onset severe,	613341
LRAT	285.3	1	1	Retinitis pigmentosa, juvenile,	613341
LRIT3	148.4	0.94	0.93	Night blindness, congenital stationary (complete), 1F, autosomal recessive,	615058
LRP5	165.5	0.98	0.96	Exudative vitreoretinopathy 4	601813
LRP5	165.5	0.98	0.96	Hyperostosis, endosteal,	144750
LRP5	165.5	0.98	0.96	Osteopetrosis, autosomal dominant 1	607634
LRP5	165.5	0.98	0.96	Osteoporosis-pseudoglioma syndrome,	259770
LRP5	165.5	0.98	0.96	Osteosclerosis,	144750
LRP5	165.5	0.98	0.96	van Buchem disease, type 2	607636
LRP5	165.5	0.98	0.96	[Bone mineral density variability 1],	601884
LRP5	165.5	0.98	0.96	{Osteoporosis},	166710
LSS	108.7	1	0.98	Cataract 44	616509
LYST	129.6	0.97	0.92	Chediak-Higashi syndrome,	214500
LZTFL1	121.2	0.98	0.9	Bardet-Biedl syndrome 17	615994
MAB21L2	210	1	1	Microphthalmia, syndromic 14	615877
MAF	51.8	0.75	0.72	Ayme-Gripp syndrome,	601088
MAF	51.8	0.75	0.72	Cataract 21 multiple types,	610202
MAK	146.6	0.94	0.93	Retinitis pigmentosa 62	614181
MAPKAPK3	76.9	0.98	0.95	No OMIM phenotype	614181
MAPKAPK3	76.9	0.98	0.95	Martinique crinkled retinal pigment epitheliopathy (Meunier -2016 Hum Mol Gene 25,916)	614181
MERTK	162.2	1	0.99	Retinitis pigmentosa 38	613862
MFN2	138	1	1	Charcot-Marie-Tooth disease, type 2A2,	609260
MFN2	138	1	1	Hereditary motor and sensory neuropathy VIA,	601152
MFRP	117.5	1	1	Microphthalmia, isolated 5	611040
MFRP	117.5	1	1	Nanophthalmos 2	609549
MFSD8	120.9	1	0.98	Ceroid lipofuscinosis, neuronal, 7	610951
MFSD8	120.9	1	0.98	Macular dystrophy with central cone involvement,	616170
MIP	104.3	0.94	0.87	Cataract 15 multiple types,	615274
MIP	104.3	0.94	0.87	MIR184 NC NC NC EDICT syndrome,	614303
MITF	134.3	1	1	Tietz albinism-deafness syndrome,	103500
MITF	134.3	1	1	Waardenburg syndrome, type 2A,	193510
MITF	134.3	1	1	Waardenburg syndrome/ocular albinism, digenic,	103470
MITF	134.3	1	1	{Melanoma, cutaneous malignant, susceptibility to, 8},	614456
MKKS	222.1	0.89	0.89	Bardet-Biedl syndrome 6	605231
MKKS	222.1	0.89	0.89	McKusick-Kaufman syndrome,	236700
MKS1	95.9	0.99	0.96	Bardet-Biedl syndrome 13	615990
MKS1	95.9	0.99	0.96	Meckel syndrome 1	249000
MVK	126.3	1	1	Hyper-IgD syndrome,	260920
MVK	126.3	1	1	Mevalonic aciduria,	610377
MVK	126.3	1	1	Porokeratosis 3 multiple types,	175900
MYO7A	127	0.98	0.95	Deafness, autosomal dominant 11	601317
MYO7A	127	0.98	0.95	Deafness, autosomal recessive 2	600060
MYO7A	127	0.98	0.95	Usher syndrome, type 1B,	276900
MYOC	171.9	1	1	Glaucoma 1A, primary open angle,	137750
NAA10	58	1	0.91	Ogden syndrome,	300855
NAA10	58	1	0.91	?Microphthalmia, syndromic 1	309800
NBAS	134.1	0.99	0.97	Infantile liver failure syndrome 2	616483
NBAS	134.1	0.99	0.97	Short stature, optic nerve atrophy, and Pelger-Huet anomaly,	614800
NDP	80.3	1	1	Exudative vitreoretinopathy 2 X-linked,	305390
NDP	80.3	1	1	Norrie disease,	310600
NEK2	81.6	0.95	0.86	?Retinitis pigmentosa 67	615565
NEUROD1	153.6	1	1	Maturity-onset diabetes of the young 6	606394
NEUROD1	153.6	1	1	{Diabetes mellitus, noninsulin-dependent},	125853
NEUROD1	153.6	1	1	Retinitis pigmentosa, autosomal recessive (Wang -2015 Invest Ophthalmol Vis Sci 56,150)	125853
NHS	83.7	0.93	0.88	Cataract 40 X-linked,	302200
NHS	83.7	0.93	0.88	Nance-Horan syndrome,	302350
NMNAT1	128.7	1	0.99	Leber congenital amaurosis 9	608553
NPHP1	122	0.99	0.94	Joubert syndrome 4	609583
NPHP1	122	0.99	0.94	Nephronophthisis 1 juvenile,	256100
NPHP1	122	0.99	0.94	Senior-Loken syndrome-1,	266900
NPHP3	111.4	0.98	0.91	Meckel syndrome 7	267010
NPHP3	111.4	0.98	0.91	Nephronophthisis 3	604387
NPHP3	111.4	0.98	0.91	Renal-hepatic-pancreatic dysplasia 1	208540
NPHP4	127.5	0.99	0.97	Nephronophthisis 4	606966
NPHP4	127.5	0.99	0.97	Senior-Loken syndrome 4	606996
NR2E3	95.9	1	1	Enhanced S-cone syndrome,	268100
NR2E3	95.9	1	1	Retinitis pigmentosa 37	611131
NR2F1	182.2	0.99	0.92	Bosch-Boonstra-Schaaf optic atrophy syndrome,	615722
NRL	61.1	0.98	0.86	Retinal degeneration, autosomal recessive, clumped pigment type	615722
NRL	61.1	0.98	0.86	Retinitis pigmentosa 27	613750
NYX	50.7	0.96	0.95	Night blindness, congenital stationary (complete), 1A, X-linked,	310500
OAT	73.6	0.68	0.61	Gyrate atrophy of choroid and retina with or without ornithinemia,	258870
OCA2	126.1	0.97	0.95	Albinism, brown oculocutaneous,	203200
OCA2	126.1	0.97	0.95	Albinism, oculocutaneous, type II,	203200
OCA2	126.1	0.97	0.95	[Skin/hair/eye pigmentation 1 blond/brown hair],	227220
OCA2	126.1	0.97	0.95	[Skin/hair/eye pigmentation 1 blue/nonblue eyes],	227220
OFD1	29.6	0.74	0.53	Joubert syndrome 10	300804
OFD1	29.6	0.74	0.53	Orofaciodigital syndrome I,	311200
OFD1	29.6	0.74	0.53	Simpson-Golabi-Behmel syndrome, type 2	300209
OFD1	29.6	0.74	0.53	?Retinitis pigmentosa 23	300424
OPA1	115.4	0.98	0.89	Behr syndrome,	210000
OPA1	115.4	0.98	0.89	Optic atrophy 1	165500
OPA1	115.4	0.98	0.89	Optic atrophy plus syndrome,	125250
OPA1	115.4	0.98	0.89	?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type),	616896
OPA1	115.4	0.98	0.89	{Glaucoma, normal tension, susceptibility to},	606657
OPA3	89.2	0.99	0.93	3-methylglutaconic aciduria, type III,	258501
OPA3	89.2	0.99	0.93	Optic atrophy 3 with cataract,	165300
OPN1LW	48.9	0.66	0.44	Blue cone monochromacy,	303700
OPN1LW	48.9	0.66	0.44	Colorblindness, protan,	303900
OPN1MW	64.3	0.65	0.5	Blue cone monochromacy,	303700
OPN1MW	64.3	0.65	0.5	Colorblindness, deutan,	303800
OTX2	116.2	1	0.97	Microphthalmia, syndromic 5	610125
OTX2	116.2	1	0.97	Pituitary hormone deficiency, combined, 6	613986
OTX2	116.2	1	0.97	Retinal dystrophy, early-onset, with or without pituitary dysfunction,	610125
PANK2	142.9	0.95	0.86	HARP syndrome,	607236
PANK2	142.9	0.95	0.86	Neurodegeneration with brain iron accumulation 1	234200
PAX2	148.6	1	0.99	Glomerulosclerosis, focal segmental, 7	616002
PAX2	148.6	1	0.99	Papillorenal syndrome,	120330
PAX6	129.3	1	1	Aniridia,	106210
PAX6	129.3	1	1	Cataract with late-onset corneal dystrophy,	106210
PAX6	129.3	1	1	Coloboma of optic nerve,	120430
PAX6	129.3	1	1	Coloboma, ocular,	120200
PAX6	129.3	1	1	Foveal hypoplasia 1	136520
PAX6	129.3	1	1	Keratitis,	148190
PAX6	129.3	1	1	Optic nerve hypoplasia,	165550
PAX6	129.3	1	1	Peters anomaly,	604229
PAX6	129.3	1	1	?Morning glory disc anomaly,	120430
PCDH15	164.2	0.99	0.98	Deafness, autosomal recessive 23	609533
PCDH15	164.2	0.99	0.98	Usher syndrome, type 1D/F digenic,	601067
PCDH15	164.2	0.99	0.98	Usher syndrome, type 1F,	602083
PCYT1A	123.1	0.97	0.94	Spondylometaphyseal dysplasia with cone-rod dystrophy,	608940
PDE6A	120.3	1	0.99	Retinitis pigmentosa 43	613810
PDE6B	136.8	1	0.99	Night blindness, congenital stationary, autosomal dominant 2	163500
PDE6B	136.8	1	0.99	Retinitis pigmentosa-40,	613801
PDE6C	131.5	0.96	0.94	Cone dystrophy 4	613093
PDE6D	93.9	1	1	?Joubert syndrome 22	615665
PDE6G	85.3	0.99	0.94	Retinitis pigmentosa 57	613582
PDE6H	58.1	0.51	0.48	Achromatopsia 6	610024
PDE6H	58.1	0.51	0.48	Retinal cone dystrophy 3	610024
PDZD7	77.7	1	0.89	Usher syndrome, type IIC, GPR98/PDZD7 digenic,	605472
PDZD7	77.7	1	0.89	{Retinal disease in Usher syndrome type IIA, modifier of},	276901
PET100	110.5	0.89	0.72	Mitochondrial complex IV deficiency,	220110
PEX1	106.9	0.97	0.97	Heimler syndrome 1	234580
PEX1	106.9	0.97	0.97	Peroxisome biogenesis disorder 1A (Zellweger),	214100
PEX1	106.9	0.97	0.97	Peroxisome biogenesis disorder 1B (NALD/IRD),	601539
PEX2	147.6	1	1	Peroxisome biogenesis disorder 5A (Zellweger),	614866
PEX2	147.6	1	1	Peroxisome biogenesis disorder 5B,	614867
PEX7	121.4	0.91	0.82	Peroxisome biogenesis disorder 9B,	614879
PEX7	121.4	0.91	0.82	Rhizomelic chondrodysplasia punctata, type 1	215100
PGK1	35.1	0.8	0.65	Phosphoglycerate kinase 1 deficiency,	300653
PHYH	87.5	0.97	0.92	Refsum disease,	266500
PIKFYVE	137.7	0.99	0.98	Corneal fleck dystrophy,	121850
PITX2	128.1	0.96	0.93	Axenfeld-Rieger syndrome, type 1	180500
PITX2	128.1	0.96	0.93	Iridogoniodysgenesis, type 2	137600
PITX2	128.1	0.96	0.93	Peters anomaly,	604229
PITX2	128.1	0.96	0.93	Ring dermoid of cornea,	180550
PITX3	56	1	0.92	Anterior segment mesenchymal dysgenesis,	107250
PITX3	56	1	0.92	Cataract 11 multiple types,	610623
PITX3	56	1	0.92	Cataract 11 syndromic,	610623
PLA2G5	117.5	1	1	[Fleck retina, familial benign],	228980
PLK4	135.2	0.99	0.86	Microcephaly and chorioretinopathy, autosomal recessive, 2	616171
PNPLA6	111.2	0.99	0.97	Boucher-Neuhauser syndrome,	215470
PNPLA6	111.2	0.99	0.97	Oliver-McFarlane syndrome,	275400
PNPLA6	111.2	0.99	0.97	Spastic paraplegia 39 autosomal recessive,	612020
PNPLA6	111.2	0.99	0.97	?Laurence-Moon syndrome,	245800
POC1B	93.5	0.92	0.9	Cone-rod dystrophy 20	615973
POMGNT1	107	1	0.95	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	253280
POMGNT1	107	1	0.95	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3	613151
POMGNT1	107	1	0.95	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3	613157
PPT1	150.6	1	1	Ceroid lipofuscinosis, neuronal, 1	256730
PRCD	89.1	1	1	Retinitis pigmentosa 36	610599
PROM1	112.9	0.96	0.93	Cone-rod dystrophy 12	612657
PROM1	112.9	0.96	0.93	Macular dystrophy, retinal, 2	608051
PROM1	112.9	0.96	0.93	Retinitis pigmentosa 41	612095
PROM1	112.9	0.96	0.93	Stargardt disease 4	603786
PRPF3	73.3	0.98	0.91	Retinitis pigmentosa 18	601414
PRPF31	99.1	1	0.93	Retinitis pigmentosa 11	600138
PRPF4	137.2	0.99	0.98	Retinitis pigmentosa 70	615922
PRPF6	114.1	1	0.99	Retinitis pigmentosa 60	613983
PRPF8	132.4	1	0.99	Retinitis pigmentosa 13	600059
PRPH2	209.9	1	0.98	Choriodal dystrophy, central areolar 2	613105
PRPH2	209.9	1	0.98	Leber congenital amaurosis 18	608133
PRPH2	209.9	1	0.98	Macular dystrophy, patterned, 1	169150
PRPH2	209.9	1	0.98	Macular dystrophy, vitelliform, 3	608161
PRPH2	209.9	1	0.98	Retinitis pigmentosa 7 and digenic,	608133
PRPH2	209.9	1	0.98	Retinitis punctata albescens,	136880
PRSS56	38.9	0.93	0.73	Microphthalmia, isolated 6	613517
PXDN	153.8	0.99	0.97	Corneal opacification and other ocular anomalies,	269400
RAB28	50.6	0.93	0.77	Cone-rod dystrophy 18	615374
RARB	124.5	1	1	Microphthalmia, syndromic 12	615524
RAX2	45.5	0.9	0.69	?Macular degeneration, age-related, 6	613757
RAX2	45.5	0.9	0.69	Cone-rod dystrophy 11	610381
RBP3	128	1	0.99	?Retinitis pigmentosa 66	615233
RBP4	87	0.93	0.91	Microphthalmia, isolated, with coloboma 10	616428
RBP4	87	0.93	0.91	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome,	615147
RCBTB1	116.9	0.99	0.98	[Beta-glycopyranoside tasting]	615147
RCBTB1	116.9	0.99	0.98	{Alcohol dependence, susceptibility to},	103780
RD3	136.9	1	1	Leber congenital amaurosis 12	610612
RDH11	125.6	1	0.97	?Retinal dystrophy, juvenile cataracts, and short stature syndrome,	616108
RDH12	87.6	0.97	0.83	Leber congenital amaurosis 13	612712
RDH5	144	1	1	Fundus albipunctatus,	136880
RGR	123.5	1	1	Retinitis pigmentosa 44	613769
RGS9	94.3	1	0.99	Bradyopsia,	608415
RGS9BP	59	1	0.97	Bradyopsia,	608415
RHO	224.6	1	1	Night blindness, congenital stationary, autosomal dominant 1	610445
RHO	224.6	1	1	Retinitis pigmentosa 4 autosomal dominant or recessive,	613731
RHO	224.6	1	1	Retinitis punctata albescens,	136880
RIMS1	113.5	0.96	0.93	Cone-rod dystrophy 7	603649
RLBP1	127.9	1	1	Bothnia retinal dystrophy,	607475
RLBP1	127.9	1	1	Fundus albipunctatus,	136880
RLBP1	127.9	1	1	Newfoundland rod-cone dystrophy,	607476
RLBP1	127.9	1	1	Retinitis punctata albescens,	136880
ROM1	97.7	1	0.98	Retinitis pigmentosa 7 digenic,	608133
RP1	123.7	0.99	0.96	Retinitis pigmentosa 1	180100
RP1L1	81.7	1	0.98	Occult macular dystrophy,	613587
RP2	117.2	1	0.98	Retinitis pigmentosa 2	312600
RP9	46	0.77	0.77	?Retinitis pigmentosa 9	180104
RPE65	138.6	1	0.99	Leber congenital amaurosis 2	204100
RPE65	138.6	1	0.99	Retinitis pigmentosa 20	613794
RPGR	59.2	0.81	0.66	Cone-rod dystrophy, X-linked, 1	304020
RPGR	59.2	0.81	0.66	Macular degeneration, X-linked atrophic,	300834
RPGR	59.2	0.81	0.66	Retinitis pigmentosa 3	300029
RPGR	59.2	0.81	0.66	Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness,	300455
RPGRIP1	145.2	1	0.99	Cone-rod dystrophy 13	608194
RPGRIP1	145.2	1	0.99	Leber congenital amaurosis 6	613826
RPGRIP1L	133.2	0.95	0.93	COACH syndrome,	216360
RPGRIP1L	133.2	0.95	0.93	Joubert syndrome 7	611560
RPGRIP1L	133.2	0.95	0.93	Meckel syndrome 5	611561
RS1	32.2	0.83	0.72	Retinoschisis,	312700
RTN4IP1	94.8	1	0.97	Optic atrophy 10 with or without ataxia, mental retardation, and seizures,	616732
SAG	126.2	1	1	Oguchi disease-1,	258100
SAG	126.2	1	1	Retinitis pigmentosa 47	613758
SDCCAG8	116.7	1	0.96	Bardet-Biedl syndrome 16	615993
SDCCAG8	116.7	1	0.96	Senior-Loken syndrome 7	613615
SEMA4A	118.9	1	0.97	Cone-rod dystrophy 10	610283
SEMA4A	118.9	1	0.97	Retinitis pigmentosa 35	610282
SHH	84.8	0.95	0.91	Holoprosencephaly-3,	142945
SHH	84.8	0.95	0.91	Microphthalmia with coloboma 5	611638
SHH	84.8	0.95	0.91	Schizencephaly,	269160
SHH	84.8	0.95	0.91	Single median maxillary central incisor,	147250
SIPA1L3	121.9	0.98	0.96	?Cataract 45	616851
SIX6	180.4	1	1	Optic disc anomalies with retinal and/or macular dystrophy,	212550
SLC16A12	167.6	1	1	Cataract, juvenile, with microcornea and glucosuria,	612018
SLC24A1	199.4	1	0.99	Night blindness, congenital stationary (complete), 1D, autosomal recessive,	613830
SLC24A5	119.9	0.95	0.93	Albinism, oculocutaneous, type VI,	113750
SLC24A5	119.9	0.95	0.93	[Skin/hair/eye pigmentation 4 fair/dark skin],	113750
SLC25A46	175.2	0.96	0.94	Neuropathy, hereditary motor and sensory, type VIB,	616505
SLC33A1	133.8	0.98	0.89	Congenital cataracts, hearing loss, and neurodegeneration,	614482
SLC33A1	133.8	0.98	0.89	Spastic paraplegia 42 autosomal dominant,	612539
SLC38A8	74	1	0.93	Foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis,	612539
SLC38A8	74	1	0.93	Foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis,	609218
SLC45A2	128.1	1	0.98	Albinism, oculocutaneous, type IV,	606574
SLC45A2	128.1	1	0.98	[Skin/hair/eye pigmentation 5 black/nonblack hair],	227240
SLC45A2	128.1	1	0.98	[Skin/hair/eye pigmentation 5 dark/fair skin],	227240
SLC45A2	128.1	1	0.98	[Skin/hair/eye pigmentation 5 dark/light eyes],	227240
SLC4A11	133.3	1	0.99	Corneal dystrophy, Fuchs endothelial, 4	613268
SLC4A11	133.3	1	0.99	Corneal endothelial dystrophy 2 autosomal recessive,	217700
SLC4A11	133.3	1	0.99	Corneal endothelial dystrophy and perceptive deafness,	217400
SLC52A2	168	1	1	Brown-Vialetto-Van Laere syndrome 2	614707
SLC7A14	179.5	1	1	Retinitis pigmentosa 68	615725
SNRNP200	144.9	1	0.98	Retinitis pigmentosa 33	610359
SOX2	80.8	0.99	0.96	Microphthalmia, syndromic 3	206900
SOX2	80.8	0.99	0.96	Optic nerve hypoplasia and abnormalities of the central nervous system,	206900
SPATA7	128	0.96	0.86	Leber congenital amaurosis 3	604232
SPATA7	128	0.96	0.86	Retinitis pigmentosa, juvenile, autosomal recessive,	604232
SPP2	155.5	1	1	No OMIM phenotype	604232
SPP2	155.5	1	1	Retinitis pigmentosa (Li -2015 Sci Rep 5,14867)	604232
SPP2	155.5	1	1	?Autism (Neale -2012 Nature 485,242)	604232
STRA6	105.6	1	1	Microphthalmia, isolated, with coloboma 8	601186
STRA6	105.6	1	1	Microphthalmia, syndromic 9	601186
TACSTD2	176.2	0.99	0.97	Corneal dystrophy, gelatinous drop-like,	204870
TCTN1	98.8	0.94	0.92	Joubert syndrome 13	614173
TCTN3	116.3	0.99	0.98	Joubert syndrome 18	614815
TCTN3	116.3	0.99	0.98	Orofaciodigital syndrome IV,	258860
TDRD7	170.6	0.98	0.97	Cataract 36	613887
TEAD1	161.4	1	0.96	Sveinsson choreoretinal atrophy,	108985
TENM3	185.5	0.99	0.98	Microphthalmia, isolated, with coloboma 9	615145
TGFBI	121.8	1	0.92	Corneal dystrophy, Avellino type,	607541
TGFBI	121.8	1	0.92	Corneal dystrophy, epithelial basement membrane,	121820
TGFBI	121.8	1	0.92	Corneal dystrophy, Groenouw type I,	121900
TGFBI	121.8	1	0.92	Corneal dystrophy, lattice type I,	122200
TGFBI	121.8	1	0.92	Corneal dystrophy, lattice type IIIA,	608471
TGFBI	121.8	1	0.92	Corneal dystrophy, Reis-Bucklers type,	608470
TGFBI	121.8	1	0.92	Corneal dystrophy, Thiel-Behnke type,	602082
TIMM8A	17.5	0.64	0.3	Jensen syndrome,	311150
TIMM8A	17.5	0.64	0.3	Mohr-Tranebjaerg syndrome,	304700
TIMP3	160.3	1	1	Sorsby fundus dystrophy,	136900
TMEM126A	108.6	0.99	0.91	Optic atrophy 7	612989
TMEM138	102.7	0.99	0.97	Joubert syndrome 16	614465
TMEM231	86.1	0.99	0.95	Joubert syndrome 20	614970
TMEM231	86.1	0.99	0.95	Meckel syndrome 11	615397
TMEM237	96.1	0.99	0.97	Joubert syndrome 14	614424
TMEM67	70.3	0.91	0.84	COACH syndrome,	216360
TMEM67	70.3	0.91	0.84	Joubert syndrome 6	610688
TMEM67	70.3	0.91	0.84	Meckel syndrome 3	607361
TMEM67	70.3	0.91	0.84	Nephronophthisis 11	613550
TMEM67	70.3	0.91	0.84	{Bardet-Biedl syndrome 14 modifier of},	615991
TOPORS	234.8	1	1	Retinitis pigmentosa 31	609923
TPP1	124	1	1	Ceroid lipofuscinosis, neuronal, 2	204500
TPP1	124	1	1	Spinocerebellar ataxia, autosomal recessive 7	609270
TRAF3IP1	71.5	0.92	0.9	Senior-Loken syndrome 9	616629
TREX1	214.3	1	1	Aicardi-Goutieres syndrome 1 dominant and recessive,	225750
TREX1	214.3	1	1	Chilblain lupus,	610448
TREX1	214.3	1	1	Vasculopathy, retinal, with cerebral leukodystrophy,	192315
TREX1	214.3	1	1	{Systemic lupus erythematosus, susceptibility to},	152700
TRIM32	134.2	1	1	Muscular dystrophy, limb-girdle, type 2H,	254110
TRIM32	134.2	1	1	?Bardet-Biedl syndrome 11	615988
TRNT1	93.1	0.95	0.91	Retinitis pigmentosa and erythrocytic microcytosis,	616959
TRNT1	93.1	0.95	0.91	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay,	616084
TRPM1	161.4	1	0.98	Night blindness, congenital stationary (complete), 1C, autosomal recessive,	613216
TSPAN12	135.9	1	0.98	Exudative vitreoretinopathy 5	613310
TTC8	88.4	0.98	0.88	Bardet-Biedl syndrome 8	615985
TTC8	88.4	0.98	0.88	?Retinitis pigmentosa 51	613464
TTLL5	149.6	1	0.96	Cone-rod dystrophy 19	615860
TUB	91.6	0.99	0.94	?Retinal dystrophy and obesity,	616188
TUBGCP4	135.5	0.98	0.95	Microcephaly and chorioretinopathy, autosomal recessive, 3	616335
TULP1	88.6	0.98	0.93	Leber congenital amaurosis 15	613843
TULP1	88.6	0.98	0.93	Retinitis pigmentosa 14	600132
TYR	189.7	1	1	Albinism, oculocutaneous, type IA,	203100
TYR	189.7	1	1	Albinism, oculocutaneous, type IB,	606952
TYR	189.7	1	1	Waardenburg syndrome/albinism, digenic,	103470
TYR	189.7	1	1	[Skin/hair/eye pigmentation 3 blue/green eyes],	601800
TYR	189.7	1	1	[Skin/hair/eye pigmentation 3 light/dark/freckling skin],	601800
TYR	189.7	1	1	{Melanoma, cutaneous malignant, susceptibility to, 8},	601800
TYRP1	190.1	1	1	Albinism, oculocutaneous, type III,	203290
TYRP1	190.1	1	1	[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)],	612271
UBIAD1	225.9	0.98	0.93	Corneal dystrophy, Schnyder type,	121800
UNC119	91.1	0.98	0.72	?Cone-rod dystrophy	121800
UNC119	91.1	0.98	0.72	?Immunodeficiency 13	615518
UNC45B	116.5	1	0.98	?Cataract 43	616279
USH1C	99.1	0.98	0.95	Deafness, autosomal recessive 18A,	602092
USH1C	99.1	0.98	0.95	Usher syndrome, type 1C,	276904
USH1G	153.6	0.95	0.93	Usher syndrome, type 1G,	606943
USH2A	156.8	0.99	0.98	Retinitis pigmentosa 39	613809
USH2A	156.8	0.99	0.98	Usher syndrome, type 2A,	276901
VAX1	44.7	0.87	0.7	?Microphthalmia, syndromic 11	614402
VCAN	185.9	1	1	Wagner syndrome 1	143200
VIM	117	1	0.93	?Cataract 30 pulverulent,	116300
VSX1	54.9	0.91	0.73	Keratoconus 1	148300
VSX1	54.9	0.91	0.73	?Craniofacial anomalies and anterior segment dysgenesis syndrome,	614195
VSX2	67.6	0.98	0.88	Microphthalmia with coloboma 3	610092
VSX2	67.6	0.98	0.88	Microphthalmia, isolated 2	610093
WDPCP	107.1	0.94	0.93	?Bardet-Biedl syndrome 15	615992
WDPCP	107.1	0.94	0.93	?Congenital heart defects, hamartomas of tongue, and polysyndactyly,	217085
WDR19	133.5	1	0.98	Nephronophthisis 13	614377
WDR19	133.5	1	0.98	Senior-Loken syndrome 8	616307
WDR19	133.5	1	0.98	?Cranioectodermal dysplasia 4	614378
WDR19	133.5	1	0.98	?Short-rib thoracic dysplasia 5 with or without polydactyly,	614376
WFS1	218.6	0.98	0.97	Deafness, autosomal dominant 6/14/38,	600965
WFS1	218.6	0.98	0.97	Wolfram syndrome,	222300
WFS1	218.6	0.98	0.97	Wolfram-like syndrome, autosomal dominant,	614296
WFS1	218.6	0.98	0.97	?Cataract 41	116400
WFS1	218.6	0.98	0.97	{Diabetes mellitus, noninsulin-dependent, association with},	125853
WRN	128.3	0.97	0.94	Werner syndrome,	277700
YAP1	95.5	0.85	0.79	Coloboma, ocular,	120433
YAP1	95.5	0.85	0.79	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation,	120433
YAP1	95.5	0.85	0.79	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation,	120433
ZEB1	188	1	0.99	Corneal dystrophy, Fuchs endothelial, 6	613270
ZEB1	188	1	0.99	Corneal dystrophy, posterior polymorphous, 3	609141
ZNF408	112	1	1	Retinitis pigmentosa 72	616469
ZNF408	112	1	1	?Exudative vitreoretinopathy 6	616468
ZNF423	226.6	1	1	Joubert syndrome 19	614844
ZNF423	226.6	1	1	Nephronophthisis 14	614844
ZNF513	90.9	1	0.97	Retinitis pigmentosa 58	613617
ZNF644	163.1	1	1	Myopia 21 autosomal dominant,	614167

Solicita el test

qGenEx® EV. Panell de gens de relacionats amb patologies de la Visió

Els panells qGenEx® consisteixen en anàlisis d’exoma dirigides, que permeten restringir l’estudi a un grup de gens concret segons l’especialitat o sospita clínica concreta, al mateix temps que generen dades de la totalitat de l’exoma, per si en primera instància no s’identifica el gen responsable, ja tinguem les dades apunt per a noves anàlisis presents o futures.

El servei qGenEx® EV, analitza 385 gens associats a malalties de la visió fent servir seqüenciació d’exoma complet mitjançant NGS.

Fes servir el buscador per trobar el gen o grup de gens relacionats amb la patologia que t’interessa i que formen part del panell:

gene
ATP6
ND1
ND4
ND6
ABCA4
ABHD12
ACO2
ACTB
ACTG1
ADAM9
ADAMTS10
ADAMTS17
ADAMTS18
ADGRV1
AGBL5
AGK
AGPS
AHI1
AIPL1
AIRE
ALDH18A1
ALDH1A3
ALMS1
ARHGEF18
ARL2BP
ARL6
ATF6
ATOH7
B3GLCT
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BCOR
BEST1
BFSP1
BFSP2
BMP4
LRMDA
C12orf57
C12orf65
C19orf12
C1QTNF5
CFAP410
PCARE
C8orf37
CABP4
CACNA1A
CACNA1F
CACNA2D4
CAPN5
CC2D2A
CDH23
CDH3
CDHR1
CEP164
CEP290
CEP78
CERKL
CFH
CHD7
CHM
CHMP4B
CHRDL1
CHST6
CIB2
CISD2
CLDN19
CLN3
CLN5
CLN6
CLN8
CLRN1
CNGA1
CNGA3
CNGB1
CNGB3
CNNM4
COL11A1
COL18A1
COL2A1
COL4A1
COL8A2
CPAMD8
CRB1
CREBBP
CRX
CRYAA
CRYAB
CRYBA1
CRYBA4
CRYBB1
CRYBB2
CRYBB3
CRYGC
CRYGD
CRYGS
CSPP1
CTNNB1
CTSD
CWC27
CYP1B1
CYP27A1
CYP4V2
CYP51A1
DCN
DDX58
DHCR7
DHDDS
DNM1L
DNMBP
EED
EFEMP1
EIF2B2
ELOVL4
EPHA2
ERCC2
ERCC3
ERCC6
ERCC8
EYS
FAM126A
FAM161A
FAT1
FLVCR1
FOXC1
FOXE3
FRAS1
FREM1
FREM2
FRMD7
FTL
FYCO1
FZD4
FZD5
GALK1
GALT
GCNT2
GEMIN4
GJA1
GJA3
GJA8
GNAT1
GNAT2
GNPAT
GNPTG
GPR143
GPR179
GRIP1
GRK1
GRM6
GSN
GTF2H5
GUCA1A
GUCA1B
GUCY2D
HARS1
HCCS
HGSNAT
HMX1
HSF4
HTRA2
IDH3A
IDH3B
IFIH1
IFT140
IKBKG
IMPDH1
IMPG1
IMPG2
INPP5E
INPP5K
IQCB1
JAM3
KCNJ13
KCNV2
KERA
KIAA1549
KIF11
KIZ
KLHL7
KMT2D
KRT12
KRT3
LCA5
LCAT
LIM2
LMX1B
LONP1
LRAT
LRIT3
LRP2
LRP5
LSS
LTBP2
LYST
LZTFL1
MAB21L2
MAF
MAK
MAN2B1
MERTK
MFF
MFN2
MFRP
MFSD8
MIP
MIR184
MKKS
MKS1
MSMO1
MYH9
MYO7A
MYOC
MYRF
NDP
NF2
NHS
NMNAT1
NPHP1
NPHP3
NPHP4
NR2E3
NR2F1
NRL
NYX
OAT
OCA2
OCRL
OFD1
OPA1
OPA3
OPN1LW
OPN1MW
OTX2
OVOL2
P3H2
PANK2
PAX2
PAX6
PCDH15
PCYT1A
PDE6A
PDE6B
PDE6C
PDE6G
PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6
PEX7
PHYH
PIK3R1
PIKFYVE
PITX2
PITX3
PLA2G5
POC1B
PORCN
PPT1
PRCD
PRDM5
PROM1
PRPF3
PRPF31
PRPF4
PRPF6
PRPF8
PRPH2
PRPS1
PRSS56
PUF60
PXDN
RAB18
RAB28
RAB3GAP1
RAB3GAP2
RARB
RAX
RAX2
RBP3
RBP4
RCBTB1
RD3
RDH12
RDH5
REEP6
RGS9
RHO
RLBP1
RP1
RP1L1
RP2
RP9
RPE65
RPGR
RPGRIP1
RPGRIP1L
RS1
RTN4IP1
SAG
SALL4
SBF2
SC5D
SCAPER
SDCCAG8
SH3PXD2B
SHH
SIL1
SIX6
SLC16A12
SLC24A1
SLC24A5
SLC25A46
SLC2A1
SLC33A1
SLC38A8
SLC45A2
SLC4A11
SLC52A2
SMO
SMOC1
SNRNP200
SOX2
SPATA7
SPG7
SRD5A3
SSBP1
STRA6
TACSTD2
TBC1D20
TDRD7
TEK
TENM3
TFAP2A
TGFBI
TIMM8A
TIMP3
TMEM126A
TMEM237
TMEM98
TOPORS
TPP1
TRIM32
TRPM1
TSPAN12
TTC8
TTLL5
TUB
TULP1
TYR
TYRP1
UBIAD1
USH1C
USH1G
USH2A
VCAN
VIM
VPS13B
VSX1
VSX2
WDPCP
WDR19
WFS1
WHRN
WRN
XYLT2
YAP1
ZEB1
ZNF408
ZNF423
ZNF469

Una anàlisi per a cada metge especialista i, al mateix temps, per a tots!

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El test pot demanar-se des de la Plataforma de Comandes, o bé descarregant el Full de Sol·licitud.

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1) Emplenar la sol·licitud del test.

Necessitem la informació del metge sol·licitant, les dades del pacient (especialment l’identificador de la mostra, la data de naixement i el sexe), i per descomptat seleccionar el test que se sol·licita.

La resta de camps també són importants, així que si disposes de la informació, ens serà de gran utilitat.

2) Imprimir el full de sol·licitud.

Una vegada emplenat a l’ordinador, s’ha d’imprimir i signar per part del metge sol·licitant.

3) Obtenir la mostra biològica.

És important recordar que les mostres han d’anar identificades amb el mateix identificador o nom indicat al Full de Sol·licitud.

4) Preparar la mostra de manera adequada per al seu enviament.

Embalar la mostra biològica de manera adequada i adjuntar el Full de Sol·licitud.

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5) Enviar la mostra al laboratori o demanar-ne la recollida trucant al 932 301 270

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c/Joan XXIII, 10
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Requisits de les mostres biològiques

DNA: >5ug, a una concentració mínima de 50ng/uL, i de bona qualitat (ratio 260/280 >1.8).

Sang en EDTA: 1 tub de 3-5mL (nens, mínim 1mL de sang).

Sang en paper: un mínim de 10 spots en targeta Guthrie o paper de filtre.

Alternativament es pot demanar a qGenomics un kit de recollida de saliva o de cèl·lules bucals.

Preparació per a l'enviament

Les mostres biològiques com la sang, la saliva o altres fluïds corporals són considerades mostres biològiques de categoria B, mentre que l’ADN es pot considerar un “Especimen humà exent”. Pots llegir aquí com han d’anar acondicionades.

La sang recollida en un tub d’EDTA, l’ADN, la saliva recollida en els contenidors especials que proporcionem, i la sang en paper, són estables a temperatura ambient durant 3 o 4 dies. Les mostres poden enviar-se, convenientment protegides, per correu ordinari o missatger.

qGenEx® EV. Panell patologies de la Visió

qGenEx® EV. Panell de gens de relacionats amb patologies de la Visió

Fes servir el buscador per trobar el gen o grup de gens relacionats amb la patologia que t’interessa i que formen part del panell:

Una anàlisi per a cada metge especialista i, al mateix temps, per a tots!

1) Emplenar la sol·licitud del test.

2) Imprimir el full de sol·licitud.

3) Obtenir la mostra biològica.

4) Preparar la mostra de manera adequada per al seu enviament.

5) Enviar la mostra al laboratori o demanar-ne la recollida trucant al 932 301 270

Truca’ns al 932 301 270 quan ho tinguis tot preparat i passarem a recollir les teves mostres.

qGenEx® AC. Panell d’Anomalies Esquelètiques i Cranials

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qGenEx® DI. Panell Discapacitat Intel·lectual

qGenEx® EM. Panell d’Enfermetats Mitocondrials

qGenEx® EP. Panel d’Epilèpsia

qGenEx® EV. Panell patologies de la Visió

qGenEx® HH. Panell d’Hipogonadisme hipogonadotròfic

qGenEx® IP. Immunodeficiències Primàries

qGenEx® MEN. Panel Mendelioma

qGenEx® MI. Panell Miopaties

qGenEx® NE. Panell Neuropaties

qGenEx® PC. Panell Ciliopaties

qGenEx® SC. Panell Sordeses

qGenEx® TDS. Panell Trastorns del Desenvolupament Sexual

qGenEx® THi. Panell Trastornos del metabolisme del Ferro

qGenEx® THT. Panell Trastorns Hematològics

qGenEx® TM. Panell Trastorns del Metabolisme

qGenEx® TMV. Panell Trastorns del Moviment

qGenEx® TR. Panel Malalties Renals

qGenEx® EP. Panell d’Enfermetats de la Pell

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