Genomics Precision Diagnostic > Ophthalmology Precision Panel > Inherited Retinal Degeneration Precision Panel

Inherited Retinal Degeneration Precision Panel

Inherited Retinal Degeneration (IRD) are a group of rare retinal diseases that ultimately lead to the progressive loss of retinal photoreceptor cells and blindness. These diseases are phenotypically heterogeneous as they can affect individuals of all ages, can progress at different rates and are rare.

Overview

Inherited Retinal Degeneration (IRD) are a group of rare retinal diseases that ultimately lead to the progressive loss of retinal photoreceptor cells and blindness. These diseases are phenotypically heterogeneous as they can affect individuals of all ages, can progress at different rates and are rare. IRDs are caused by mutations in genes that contribute to proper retinal function, where some genes mutations can cause more severe forms than others. Examples of these diseases include age-related macular degeneration, Leber congenital amaurosis, Stargardt disease and retinitis pigmentosa. Inherited retinal degeneration can be inherited in all modes of inheritance: autosomal dominant, autosomal recessive, X-linked and mitochondria.
The Igenomix Inherited Retinal Degeneration Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of progressive blindness ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Inherited Retinal Degeneration Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Blurred vision
- Family history of inhertied retinal degeneration
- Difficulties with peripheral vision
- Difficulties with color vision
- Reduction in the sharpness of vision

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment with a multidisciplinary team in the form of stem cell therapy, gene therapy and optogenetic therapy. Surgical care with retinal prosthetics and neuroprotective agents to prevent visual complications.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.

Genes & Diseases

See all genes and diseases

Gene	OMIM Diseases	Inheritance*	% Gene Coverage (20x)	HGMD**
*AARS1*	Charcot-Marie- Tooth Disease, Epileptic Encephalopathy	AD,AR	99.07	30 of 30
*ABCA4*	Cone-Rod Dystrophy, Macular Degeneration, Retinitis Pigmentosa, Stargardt Disease	AD,AR	100	1392 of 1430
*ABCC6*	Arterial Calcification, Pseudoxa- nthoma Elasticum	AD,AR	99	346 of 349
*ACO2*	Cerebellar- Retinal Degeneration, OpticAtrophy	AR	100	33 of 33
*ACTL6A*	Intellectual Disability	–	99.98	3 of 3
*ACTL6B*	Epileptic Encephalopathy, Intellectual Developmental Disorder, Speech And Ambulation Defects	AD,AR	100	21 of 21
*ACVRL1*	Osler-Rendu- Weber Syndrome, Hemorrhagic Telangiectasia	AD	100	457 of 462
*ADAMTS18*	Microcornea, Myopic- Chorioretinal- Atrophy, Telecanthus	AR	100	14 of 14
*AIPL1*	Leber- Congenital Amaurosis, Retinitis Pigmentosa, ConeRod- Dystrophy	AD,AR,X,XR,G	89	82 of 82
*ALDH3A2*	Sjogren- Larsson Syndrome	AR	96	119 of 119
*ALMS1*	Alstrom- Syndrome	AR	99.92	302 of 305
*ANO10*	Spinocerebellar- Ataxia, CerebellarAtaxia	AR	100	28 of 28
*AP3B2*	Epileptic Encephalopathy	AR	99.95	11 of 12
*APOB*	Hyperchol- esterolemia, Hypobetali- poproteinemia	AD,AR	99.62	369 of 375
*APOE*	Alzheimer Disease, Lipoprotein Glomerulopathy, Macular Degeneration, Dysbetali- poproteinemia, Sea-Blue Histiocytosis	AD,AR	99.53	65 of 68
*ARL2BP*	Retinitis Pigmentosa	AR	99.99	7 of 7
*ARL6*	Bardet-Biedl Syndrome, Retinitis Pigmentosa	AD,AR,X,XR,G	100	17 of 21
*ARSG*	Usher Syndrome	AR	99.98	2 of 2
*ARV1*	Epileptic Encephalopathy	AR	100	3 of 3
*ASAH1*	Farber Lipogra- nulomatosis, Spinal Muscular Atrophy, Myoclonic Epilepsy, Farber Disease, Spinal Muscular Atrophy	AR	99.98	69 of 70
*ATF6*	Achromatopsia, ConeRod Dystrophy	AR	99.98	16 of 16
*ATP6V1A*	Cutis Laxa, Epileptic Encephalopathy	AD,AR	99.98	9 of 9
*ATXN7*	Spinocerebellar Ataxia, Retinal Degeneration, Macular Degeneration Ophthalmoplegia	AD	94.99	–
*BBS1*	Bardet- Biedl Syndrome	AR	100	102 of 105
*BBS2*	Bardet- Biedl Syndrome, Retinitis Pigmentosa	AR	100	99 of 100
*BBS4*	Bardet- Biedl Syndrome	AR	100	45 of 48
*BCORL1*	Shukla- Vernon Syndrome, Intellectual Disability	X,XR,G	98.77	–
*BEST1*	Bestrop- hinopathy, Macular Dystrophy, Retinitis Pigmentosa, Vitreoretino- choroidopathy, Foveomacular- Vitelliform Dystrophy, Nanophthalmos	AD,AR	94.35	342 of 344
*BPTF*	Neuro- developmental Disorder, Dysmorphic Facies, Distal Limb Anomalies, 17q24.2 Microdeletion Syndrome, Intellectual Disability	AD	94.31	12 of 15
*C1QTNF5*	Retinal Degeneration	AD	99.97	7 of 7
*C8ORF37*	Bardet- Biedl Syndrome, Cone-Rod Dystrophy, Retinitis Pigmentosa	AD,AR,X,XR,G	–	–
*CACNA1A*	Epileptic Encephalopathy, Spinocerebellar Ataxia, Migraine, Paroxysmal Torticollis Of Infancy	AD	96.13	249 of 266
*CACNA1B*	Neuro- developmental Disorder, Seizures, Nonepileptic Hyperkinetic Movements, Epileptic Encephalopathy	AR	95.83	7 of 7
*CCDC28B*	Bardet- Biedl Syndrome	AR	99.83	1 of 1
*CDH3*	Eem Syndrome , Hypotrichosis, Macular Dystrophy	AR	95	34 of 36
*CDK19*	Epileptic Encephalopathy	AD	99.81	1 of 1
*CEP164*	Nephro- nophthisis , Senior- Loken Syndrome	AR	99.98	10 of 10
*CEP78*	Cone-Rod Dystrophy, Hearing Loss, Usher Syndrome	AR	99.44	9 of 10
*CFAP410*	Retinal Dystrophy , Macular Staphyloma, Spondylo- metaphyseal Dysplasia, Amyotrophic Lateral Sclerosis, ConeRod Dystrophy	AR	–	–
*CFH*	Basal Laminar Drusen, Complement Factor H Deficiency, Hemolytic Uremic Syndrome, Macular Degeneration, Hellp Syndrome	AD,AR,MU,P	99.94	340 of 342
*CFHR1*	Hemolytic Uremic Syndrome, Macular Degeneration	AD,AR	88.29	0 of 9
*CFHR3*	Hemolytic Uremic Syndrome, Macular Degeneration	AD,AR	89.89	0 of 7
*CFI*	Complement Factor I Deficiency, Hemolytic Uremic Syndrome, Macular Degeneration, HellpSyndrome	AD,AR	99.93	156 of 158
*CHM*	Choroideremia	X,XD,G	99.52	–
*CLCC1*	Retinitis Pigmentosa	AR	97.97	–
*CLN3*	Ceroid Lipofuscinosis	AR	99.93	73 of 75
*CLN5*	Ceroid Lipofuscinosis	AR	99.56	52 of 55
*CLN6*	Ceroid Lipofuscinosis	AR	99.94	98 of 99
*CLTC*	Mental Retardation Epileptic Encephalopathy	AD	98.81	14 of 14
*CNGA3*	Achromatopsia, ConeRod Dystrophy	AR	99.97	165 of 165
*CNGB1*	Retinitis Pigmentosa	AR	100	75 of 75
*CNGB3*	Achromatopsia, Cone Dystrophy, StargardtDisease	AR	99.83	121 of 126
*CNKSR2*	Mental Retardation, Epileptic Encephalopathy	X,G	99.11	–
*COL18A1*	Glaucoma, Knobloch Syndrome	AD,AR	99.76	–
*COL2A1*	Achondr- ogenesis , Avascular Necrosis Of Femoral Head, Czech Dysplasia, Multiple Epiphyseal Dysplasia, Myopia, Conductive Deafness, Kniest Dysplasia, Legg-Calve- Perthes Disease, Osteoarthritis, Stickler Syndrome Dysspondy- loenchon- dromatosis	AD,MU	100	583 of 583
*COL8A2*	Polymorphous Corneal Dystrophy	AD	94.25	10 of 10
CP	Acerulo- plasminemia	AR	99.91	58 of 59
*CRB1*	Leber Congenital Amaurosis, Chorioretinal Atrophy, Retinitis Pigmentosa, Nanophthalmos	AD,AR,X,G	99.84	365 of 371
*CRX*	Cone-Rod Dystrophy, Leber Congenital Amaurosis, Retinitis Pigmentosa	AD,AR,X,XR,G	99.91	117 of 117
*CST3*	Amyloidosis, Macular Degeneration	AD,MU,P	95.95	4 of 4
*CTNNB1*	Colorectal- Cancer, Exudative Vitreoretinopathy, Hepatocellular Carcinoma, Medulloblastoma , Mental Retardation, Pilomatrixoma, Cranio- pharyngioma, DesmoidTumor, SpasticDiplegia	AD,AR	100	63 of 63
*CTSD*	Ceroid Lipofuscinosis	AR	100	18 of 18
*CWC27*	Retinitis Pigmentosa	AR	99.77	8 of 8
*CYFIP2*	Epileptic Encephalopathy	AD	100	8 of 8
*CYP4V2*	Bietti Crystalline Corneoretinal Dystrophy	AR	100	112 of 112
*DALRD3*	Epileptic Encephalopathy	AR	97.17	–
*DDX6*	Intellectual Develo- pmental Disorder, Impaired Language, Dysmorphic Facies	–	100	5 of 5
*DHDDS*	Develo- pmental Delay, Seizures, Retinitis Pigmentosa, Epileptic Enceph- alopathy	AD,AR	96.32	8 of 8
*DHX38*	Retinitis Pigmentosa	AR	100	4 of 4
*DNM1*	Epileptic Encepha- lopathy, Lennox- Gastaut Syndrome	AD	94.8	30 of 30
*DOCK3*	Neurode velopmental Disorder, Hypotonia, Ataxia, Mental Retardation	AR	99.94	7 of 8
*DPP6*	Mental Retardation, Ventricular Fibrillation , Microcephaly	AD	97.03	23 of 28
*DRAM2*	ConeRod Dystrophy	AR	99.87	13 of 13
*EEF1A2*	Epileptic Encephalopathy, Mental Retardation	AD	100	14 of 14
*EFEMP1*	Doyne Honey comb Retinal Dystrophy	AD	100	7 of 7
*ELOVL4*	Erythrokera todermia, Ichthyosis, Spastic Quadriplegia, Mental Retardation, Stargardt Disease, Spinocerebellar Ataxia	AD,AR	100	16 of 17
*ERCC2*	Cerebro oculofacios keletal Syndrome, Trichothio dystrophy, Xeroderma Pigmentosum, CofsSyndrome	AR	100	102 of 102
*ERCC3*	Trichoth- iodystrophy, Xeroderma Pigmentosum	AR	99.98	24 of 24
*ERCC6*	Cerebro oculofacio- skeletal Syndrome, Cockayne Syndrome, De Sanctis- Cacchione Syndrome, Lung Cancer, Ovarian Failure, Uv-Sensitive Syndrome, CofsSyndrome	AD,AR	99.98	127 of 128
*ERCC8*	Cockayne Syndrome, Uv-Sensitive Syndrome	AR	100	60 of 64
*EYS*	Retinitis Pigmentosa	AR	99.54	358 of 379
*FBLN1*	Synpoly dactyly, Developmental Delay, Central Nervous System Anomaly, Syndactyly	AD	98.03	4 of 4
*FBLN5*	Cutis Laxa, Neuropathy, Macular Degeneration	AD,AR	97.43	23 of 23
*FBN2*	Contractural Arachnodactyly, Macular Degeneration	AD	100	115 of 115
*FBXW11*	Neuro- developmental, Jaw, Eye, And Digital Syndrome	AD	99.89	10 of 10
*FGF12*	Epileptic Encephalopathy	AD	99.98	4 of 6
*FKRP*	Muscular Dystrophy- Dystrogly- canopathy, Limb Girdle Muscular Dystrophy, Muscle-Eye- Brain Disease, Walker- Warburg Syndrome	AR	99.9	157 of 157
*FKTN*	Cardio- myopathy, Muscular Dystrophy- Dystrogly- canopathy, Limb Girdle Muscular Dystrophy, Muscle-Eye- Brain Disease, Walker- Warburg Syndrome	AR	98	54 of 56
*FSCN2*	Retinitis Pigmentosa	AD	98.93	16 of 17
*FTL*	Basal Ganglia Disease, Hyperfe- rritinemia- Cataract Syndrome, L-Ferritin Deficiency, Neuro- ferritinopathy	AD,AR	100	21 of 63
*GABRA2*	Alcohol Dependence, Epileptic Ence- phalopathy	AD,MU	99.08	3 of 3
*GABRA5*	Epileptic Ence- phalopathy	AD	99.94	9 of 9
*GABRB2*	Epileptic Ence- phalopathy	AD	99.19	16 of 19
*GABRG2*	Epileptic Ence- phalopathy, Dravet Syndrome, Rolandic Epilepsy	AD	99.67	53 of 53
*GBA*	Dementia, Gaucher Disease, Parkinson Disease	AD,AR	100	469 of 471
*GNAT2*	Achromatopsia , Cone Dystrophy	AR	100	26 of 26
*GNB5*	Intellectual Dev- elopmental Disorder, Cardiac Arrhythmia, Language Delay, Attention Deficit- Hyperactivity Disorder	AR	100	13 of 13
*GNPTAB*	Mucolipidosis	AR	100	279 of 280
*GRHL2*	Corneal Dystrophy, Deafness, Ectodermal Dysplasia	AD,AR	100	8 of 11
*GRIN2D*	Epileptic Ence- phalopathy	AD	79.74	17 of 18
*GTF2E2*	Trichothi- odystrophy	AR	99.98	2 of 2
*GTF2H5*	Trichothi- odystrophy	AR	100	8 of 8
*GUCA1A*	Areolar Choroidal Dystrophy, Cone Rod Dystrophy	AD	99.94	27 of 27
*GUCA1B*	Retinitis Pigmentosa	AD	100	10 of 10
*GUCY2D*	Cone Rod Dystrophy, Leber Congenital Amaurosis , Night Blindness, Areolar Choroidal Dystrophy	AD,AR	99.98	248 of 248
*HADHA*	3-Hydroxyacyl- Coa Dehy- drogenase Deficiency, Trifunctional Protein Deficiency	AR	100	75 of 75
*HCN1*	Epileptic Ence- phalopathy, Febrile Seizures	AD	98.43	42 of 43
*HGSNAT*	Mucopoly- saccharidosis, Retinitis Pigmentosa	AR	87.91	69 of 73
*HK1*	Hemolytic Anemia, Neuro- deve- lopmental Disorder, Visual Defects, Brain Anomalies, Neuropathy, Retinitis Pigmentosa, Charcot-Marie- Tooth Disease	AD,AR	100	14 of 17
*HLA-A*	Birdshot- Choriore- tinopathy	–	99.72	1 of 1
*HMCN1*	Macular Degeneration	AD	100	13 of 13
*HSD17B10*	Hydroxyacyl- Coa Dehy- drogenaseII Deficiency, Hsd10 Disease	X,XD,G	100	–
*IDUA*	Hurler- Scheie Syndrome	AR	99.73	287 of 292
*IFT140*	Retinitis Pigmentosa, Short-Rib Thoracic Dysplasia, Polydactyly, Jeune Syndrome, Leber Congenital Amaurosis	AR	99.97	81 of 81
*IFT172*	Retinitis Pigmentosa , Short-Rib Thoracic Dysplasia, Polydactyly, Bardet-Biedl Syndrome, Jeune Syndrome	AR	100	37 of 37
*IMPDH1*	Leber Congenital Amaurosis, Retinitis Pigmentosa	AD	99.98	29 of 29
*JAG1*	Alagille Syndrome, Tetralogy Of Fallot	AD	99.98	640 of 641
*KCNA2*	Epileptic Ence- phalopathy	AD	99.86	23 of 23
*KCNB1*	Epileptic Ence- phalopathy	AD	99.95	55 of 55
*KCNJ13*	Leber Congenital Amaurosis , Vitreoretinal Degeneration	AD,AR	99.64	11 of 11
*KCNV2*	Retinal Cone Dystrophy	AR	99.98	86 of 88
*KIAA1549*	Retinitis Pigmentosa	AR	96.67	9 of 10
*KMT2E*	O’donnell- Luria-Rodan Syndrome, Intellectual Disability	AD	99.83	34 of 34
*LAMA1*	Poretti- Boltshauser Syndrome, Ataxia, Intellectual Disability, Oculomotor Apraxia, Cerebellar Cysts	AR	100	43 of 43
*LARGE1*	Muscular Dystrophy- Dystrogly canopathy, Limb Girdle Muscular Dystrophy, Muscle-Eye- Brain Disease, Walker- Warburg Syndrome	AR	100	–
*LMNA*	Cardio- myopathy, Charcot- Marie- ToothDisease, Emery- Dreifuss Muscular Dystrophy, Heart-Hand Syndrome, Hutchinson- Gilford Progeria Syndrome, Malouf Syndrome, Mandibuloacral Dysplasia, Werner Syndrome, Lipodystrophic- Laminopathy, Hypergona- dotropic- Hypogonadism, Dermopathy	AD,AR	100	619 of 620
*LZTFL1*	Bardet- Biedl Syndrome	AR	99.83	4 of 4
*MAB21L1*	Cerebellar, Ocular, Craniofacial And Genital Syndrome	AR	99.97	6 of 6
*MAN2B1*	Mannosidosis	AR	100	149 of 149
*MAPKAPK3*	Macular Dystrophy	AD	99.98	2 of 2
*MCOLN1*	Mucolipidosis	AR	99.99	34 of 36
*MED13*	Intellectual Developmental Disorder	AD	97.23	17 of 17
*MERTK*	Retinitis Pigmentosa	AR	100	99 of 101
*MFRP*	Microphthalmia, Retinitis Pigmentosa, Foveoschisis, Nanophthalmos	AR	100	36 of 36
*MICOS13*	Oxidative Phosp horylation Deficiency, 3- Methy lglutaconic Aciduria	AR	–	–
*MIR204*	Retinal Dystrophy, Iris Coloboma, Cataract	AD	–	–
*MPLKIP*	Trichothio dystrophy	AR	100	13 of 13
*MTTP*	Abdominal Obesity- Metabolic Syndrome, Abetalipo- proteinemia	AD,AR	100	69 of 71
*MYT1L*	Mental Retardation	AD	99.98	30 of 30
*NDE1*	Lissen- cephaly, Hydrane- ncephaly	AR	86.55	12 of 13
*NECAP1*	Epileptic Ence- phalopathy	AR	99.83	2 of 2
*NR2E3*	S-Cone Syndrome , Retinitis Pigmentosa	AD,AR	–	–
*NRL*	Retinitis Pigmentosa	AD	99.81	25 of 25
*NTNG1*	Rett Syndrome, Intellectual Disability	–	99.96	2 of 2
*NTRK2*	Epileptic Encephalopathy, Obesity, Hyperphagia, Developmental Delay, West Syndrome	AD	100	9 of 9
*NUS1*	Congenital Disorder Of Glycosylation, Mental Retardation, Seizures, Epileptic Ence- phalopathy	AD,AR	99.62	22 of 23
*OAT*	Ornithine Amino- transferase Deficiency, Gyrate Atrophy Of Choroid And Retina	AR	100	72 of 73
*OPA1*	Behr Syndrome, Mitochondrial Dna Depletion Syndrome, Optic Atrophy, Deafness, Ophtha- lmoplegia, Myopathy, Ataxia, Neuropathy	AD,AR	99.98	397 of 402
*OVOL2*	Corneal Dystrophy	AD	99.87	0 of 3
*P3H2*	Myopia, Cataract, Vitreoretinal Degeneration	AR	99.81	–
*PANK2*	Hypo- prebetalipo- proteinemia, Acanthocytosis, Retinitis Pigmentosa, Pallidal Degeneration, Neurode generation, BrainIron Accumulation	AR	98.92	177 of 182
*PARS2*	Epileptic Encephalopathy	AR	100	7 of 7
*PAX2*	Focal Segmental Glomerulo- sclerosis, Papillorenal Syndrome, Renal Coloboma Syndrome	AD	99.99	100 of 100
*PDE6C*	Cone Dystrophy, Achro- matopsia	AR	100	63 of 63
*PDE6H*	Retinal Cone Dystrophy, Achromatopsia	AD,AR	100	2 of 2
*PEX7*	Peroxisome Biogenesis Disorder, Refsum Disease, Rhizomelic Chondrody splasia Punctata	AR	99.21	47 of 53
*PHYH*	Refsum Disease	AR	100	34 of 34
*PISD*	Liberfarb Syndrome	AR	100	4 of 4
*PITPNM3*	Cone- Rod Dystrophy	AD	99.8	7 of 7
*PLK4*	Microcephaly, Choriore- tinopathy, Seckel Syndrome	AR	99.74	10 of 10
*PNPLA6*	Boucher- Neuhauser Syndrome, Laurence- Moon Syndrome, Oliver- Mcfarlane Syndrome, Spastic Paraplegia, Cerebellar Ataxia, Hypogonadism	AR	100	65 of 65
*POMGNT1*	Muscular Dystrophy- Dystrogly- canopathy, Limb Girdle Muscular Dystrophy, Muscle-Eye- Brain Disease, Retinitis Pigmentosa, Walker- Warburg Syndrome	AR	99.91	82 of 83
*POMK*	Muscular Dystrophy- Dystrogly- canopathy, Limb Girdle Muscular Dystrophy, Walker- Warburg Syndrome	AR	99.99	8 of 8
*POMT1*	Muscular Dystrophy- Dystrogly- canopathy, Limb Girdle Muscular Dystrophy, Muscle-Eye- Brain Disease, Walker- Warburg Syndrome	AR	100	105 of 105
*POMT2*	Muscular Dystrophy- Dystrogly canopathy, Limb Girdle Muscular Dystrophy, Muscle-Eye- Brain Disease, Walker- Warburg Syndrome	AR	100	74 of 74
*POU3F4*	Deafness, Xq21 Microdeletion Syndrome	X,XR,G	99.98	–
*PPP3CA*	Arthrogryposis, Cleft Palate , Cranios- ynostosis, Impaired Intellectual Development, Epileptic Encephalopathy	AD	99.98	16 of 16
*PPT1*	Ceroid Lipofuscinosis	AR	100	81 of 81
*PRCD*	Retinitis Pigmentosa	AR	100	7 of 7
*PROM1*	Cone-Rod Dystrophy , Macular Dystrophy, Retinitis Pigmentosa, Stargardt Disease	AD,AR	99.61	90 of 93
*PRPF31*	Retinitis Pigmentosa	AD	100	160 of 166
*PRPF4*	Retinitis Pigmentosa	AD	99.99	5 of 5
*PRPF8*	Retinitis Pigmentosa	AD	100	58 of 58
*PRPH2*	Choroidal Dystrophy, Retinitis Punctata Albescens , Macular Dystrophy, Retinitis Pigmentosa, Foveo- macular Vitelliform Dystrophy, ConeRod Dystrophy, Stargardt Disease	AD,AR	100	188 of 188
*PSMD12*	Stankiewicz- Isidor Syndrome, 17q24.2 Microdeletion Syndrome, Intellectual Disability	AD	97.93	3 of 4
*RAX2*	Cone-Rod Dystrophy, Macular Degeneration	AD	99.89	7 of 9
*RBP4*	Microphthalmia, Retinal Dystrophy, Iris Coloboma, Comedogenic Acne Syndrome	AD,AR	100	8 of 8
*RDH11*	Retinal Dystrophy, Juvenile Cataracts, Short Stature Syndrome, Retinitis Pigmentosa, Intellectual Disability	AR	99.97	3 of 3
*RDH5*	Retinitis Punctata Albescens	AD,AR	100	54 of 54
*REEP6*	Retinitis Pigmentosa	AR	97.59	9 of 9
*RHO*	Night Blindness, Retinitis Pigmentosa, Retinitis Punctata Albescens	AD,AR	100	229 of 229
*RLBP1*	Bothnia Retinal Dystrophy, ConeRod Dystrophy, Retinitis Pigmentosa, Retinitis Punctata Albescens	AD,AR	100	32 of 33
*RLIM*	Mental Retardation	X,XR,G	99.52	–
*RNF113A*	Trichothio- dystrophy	X,XD,G	99.7	–
*ROM1*	Retinitis Pigmentosa	AD,AR,X,XR,G	100	20 of 20
*RP2*	Retinitis Pigmentosa	X,G	99.98	–
*RP9*	Retinitis Pigmentosa	AD	97.78	4 of 4
*RPE65*	Leber Congenital Amaurosis , Retinitis Pigmentosa	AD,AR	100	231 of 231
*RPGR*	Cone-Rod Dystrophy, Macular Degeneration, Retinitis Pigmentosa, Deafness, Achromatopsia, Ciliary Dyskinesia	X,XR,G	94	–
*RPGRIP1*	Cone-Rod Dystrophy, Leber Congenital Amaurosis, Meckel Syndrome	AR	99.33	146 of 159
*RS1*	Retinoschisis	X,XR,G	100	–
*SAG*	Oguchi Disease, Retinitis Pigmentosa, Night Blindness	AR	100	18 of 18
*SCAPER*	Intellectual Developmental Disorder , Retinitis Pigmentosa	AR	99.92	17 of 18
*SCN3A*	Epilepsy, Epileptic Ence- phalopathy	AD	99.98	18 of 18
*SCN8A*	Cognitive Impairment, Cerebellar Ataxia, Epileptic Ence- phalopathy, Myoclonus, Seizures, Infantile Convulsions, Choreoathetosis	AD	97.85	156 of 172
*SDCCAG8*	Bardet-Biedl Syndrome, Senior -Loken Syndrome	AR	96.29	18 of 19
*SEMA4A*	ConeRod Dystrophy , Retinitis Pigmentosa, Colorectal Cancer	AD,AR	99.94	15 of 15
*SH3BP2*	Cherubism	AD	92	16 of 16
*SIX6*	Microphthalmia, Optic Disc Anomalies, Retinal Dystrophy, Macular Dystrophy	AD,AR	99.96	8 of 8
*SLC13A5*	Epileptic Encephalopathy, Ameloce- rebrohypo- hidrotic Syndrome	AR	95.92	24 of 24
*SLC19A2*	Thiamine- Responsive Megaloblastic Anemia Syndrome	AR	99.99	67 of 68
*SLC1A2*	Epileptic Encephalopathy	AD	100	7 of 7
*SLC25A15*	Hyperornithinemia Hyperammonemia, Homocitrullinuria	AR	100	41 of 41
*SLC7A14*	Retinitis Pigmentosa	AR	99.97	10 of 10
*SNRNP200*	Retinitis Pigmentosa	AD	100	40 of 40
*SPG11*	Amyotrophic Lateral Sclerosis, Charcot- Marie-Tooth Disease, Spastic Paraplegia	AR	99.93	289 of 297
*STUB1*	Spinocerebellar Ataxia	AD,AR	99.93	36 of 36
*STXBP1*	Epileptic Encephalopathy , 9q33.3q34.11 Microdeletion Syndrome , Atypical Rett Syndrome, Dravet Syndrome, West Syndrome	AD	100	209 of 215
*SUMF1*	Multiple Sulfatase Deficiency	AR	100	52 of 52
*SVBP*	Neuro developmental Disorder, Ataxia, Hypotonia, And Microcephaly, Intellectual Disability	AR	100	–
*SYNGAP1*	Mental Retardation, Epileptic Encephalopathy	AD	99.46	168 of 171
*SYNJ1*	Epileptic Encephalopathy, Parkinson Disease	AR	99.81	30 of 32
*SZT2*	Epileptic Encephalopathy	AR	99.98	39 of 39
*TANC2*	Intellectual Developmental Disorder, Autism, Language Delay, Seizures	AD	97.81	21 of 21
*TARS1*	Trichothio- dystrophy	AR	99.94	–
*TCF20*	Developmental Delay, Intellectual Impairment Behavioral Abnormalities	AD	100	73 of 73
*TEAD1*	Sveinsson Chorioretinal Atrophy	AD	100	3 of 3
*TMEM67*	Bardet-Biedl Syndrome, Coach Syndrome, Joubert Syndrome, Meckel Syndrome, Nephronophthisis, Rhyns Syndrome	AR	96.93	177 of 179
*TNFRSF11B*	Paget Disease Of Bone, Calcium Pyrophosphate Deposition	AR	99.98	16 of 16
*TOPORS*	Retinitis Pigmentosa	AD	99.96	24 of 25
*TPP1*	Ceroid Lipofuscinosis, Spinocere- bellar Ataxia	AR	100	147 of 147
*TRAF3IP1*	Senior- Loken Syndrome	AR	97.54	15 of 15
*TRAK1*	Epileptic Encephalopathy	AR	99.28	7 of 7
*TRAPPC4*	Neuro- developmental Disorder, Epilepsy, Spasticity, Brain Atrophy	AR	100	–
*TRMT1*	Intellectual Developmental Disorder	AR	99.97	5 of 5
*TRNT1*	Retinitis Pigmentosa, Erythrocytic Microcytosis, Sideroblastic Anemia, B-Cell Immunodeficiency, Periodic Fevers, Developmental Delay	AR	99.47	22 of 27
*TTC21B*	Thoracic Dystrophy, Nephron- ophthisis, Jeune Syndrome, Joubert Syndrome	AD,AR	100	67 of 67
*TTC8*	Retinitis Pigmentosa , Bardet- Biedl Syndrome	AR	99.33	28 of 28
*TUB*	Retinal Dystrophy, Obesity, Retinitis Pigmentosa	AR	99.91	4 of 4
*TUBB4B*	Leber Congenital Amaurosis, Deafness	AD	100	3 of 3
*TULP1*	Leber Congenital Amaurosis, Retinitis Pigmentosa	AR	99.9	82 of 82
*UBA5*	Epileptic Encephalopathy, Spinocerebellar Ataxia	AR	99.98	19 of 19
*USP45*	Leber Congenital Amaurosis	AR	99.08	4 of 5
*VCAN*	Wagner Syndrome	AD	99.91	11 of 21
*VSX1*	Craniofacial Anomalies , Keratoconus , Corneal Dystrophy	AD	94.56	25 of 25
*WDFY3*	Microcephaly, Intellectual Disability	AD	99.95	60 of 60
*WDR19*	Thoracic Dystrophy, Cranioecto- dermal Dysplasia, Nephron- ophthisis, Senior- Loken Syndrome, Jeune Syndrome	AR	99.96	47 of 49
*WRN*	Werner Syndrome	AR	99.97	107 of 109
*WWOX*	Epileptic Encephalopathy, Esophageal Cancer, Spinocerebellar Ataxia, Gonadal Dysgenesis, Cerebella rAtaxia	AR	99.94	44 of 44
*XYLT1*	Desbuquois Dysplasia, Pseudo- xanthom aElasticum, Congenital DisorderOf Glycosylation	AR	92.61	19 of 23
*XYLT2*	Pseudo- xanthoma Elasticum, Spondyloocular Syndrome	AR	99.98	12 of 12
*YWHAG*	Epileptic Encephalopathy	AD	99.94	5 of 5
*ZEB1*	Corneal Dystrophy	AD	89.95	63 of 65
*ZFYVE26*	Spastic Paraplegia	AR	99.95	48 of 48
*ZMIZ1*	Neuro- developmental Disorder, Dysmorphic Facies, Distal Skeletal Anomalies	AD	98.87	13 of 13
*ZNF408*	Exudative Vitreoretinopathy, Retinitis Pigmentosa	AD,AR	99.98	26 of 26
*ZNF423*	Nephronophthisis, Joubert Syndrome, Oculorenal Defect	AD,AR	100	10 of 10

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial

** HGMD: Number of clinically relevant mutations according to HGMD

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