Genomics Precision Diagnostic > Ophthalmology Precision Panel > Retinitis Pigmentosa Precision Panel

Retinitis Pigmentosa Precision Panel – 98 genes

Retinitis Pigmentosa (RP) comprises a complex group of inherited dystrophies characterized by degeneration and dysfunction of the retina, affecting photoreceptor and pigment epithelial function.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

Retinitis Pigmentosa (RP) comprises a complex group of inherited dystrophies characterized by degeneration and dysfunction of the retina, affecting photoreceptor and pigment epithelial function. RP can be an isolated finding or be part of a syndrome that can be inherited in a dominant, recessive or X-linked pattern. This disease presents as progressive loss of night and peripheral vision, leading to a constricted visual field and markedly diminished vision. The clinical presentation of these findings is highly variable, some patients being affected during childhood while others are asymptomatic well into adulthood. There is an increase in mortality rate due to psychiatric comorbidities.
The Igenomix Retinitis Pigmentosa Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of 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 Retinitis Pigmentosa Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Family history of RP
- Night blindness
- Progressive constriction of the visual field, usually peripheral
- Cataracts
- Sensation of sparking lights (photopsias)
- Headache

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 multidisciplinary treatment in the form of medical care with vitamin A and other antioxidants and surgical care for potential cataract extraction or retinal prosthesis.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Detect novel disease-causing genes and novel variant in disease-causing genes.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ABCA4*	Cone-Rod Dystrophy, Macular Degeneration, Retinitis Pigmentosa, Stargardt Disease	AD,AR	100	1392 of 1430
*ABHD12*	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract	AR	95.77	21 of 21
*AGBL5*	Retinitis Pigmentosa	AR	99.97	9 of 9
*AHI1*	Joubert Syndrome, Ocular Defect, Retinitis Pigmentosa	AR	96.79	85 of 97
*AHR*	Retinitis Pigmentosa	AR	99.91	2 of 2
*AIPL1*	Leber Congenital Amaurosis, Retinitis Pigmentosa, Cone Rod Dystrophy	AD,AR,X,XR,G	89	82 of 82
*AMACR*	Alpha- Methylacyl– Coa Racemase Deficiency, Bile Acid Synthesis Defect	AR	100	8 of 8
*ARHGEF18*	Retinitis Pigmentosa	AR	99.95	6 of 6
*ARL2BP*	Retinitis Pigmentosa, Situs Inversus	AR	99.99	7 of 7
*ARL3*	Joubert Syndrome, Retinitis Pigmentosa	AD,AR	99.99	4 of 4
*ARL6*	Bardet-Biedl Syndrome, Retinitis Pigmentosa	AD,AR,X,XR,G	100	17 of 21
*ATP6*	Leber Optic Atrophy, Neuropathy, Ataxia, Retinitis Pigmentosa, Bilateral Striatal Necrosis, Leigh Syndrome, Spastic Paraplegia, Narp Syndrome	MI	–	–
*BBS2*	Bardet-Biedl Syndrome, Retinitis Pigmentosa	AR	100	99 of 100
*BEST1*	Best- rophinopathy, Macular Dystrophy, Retinitis Pigmentosa, Vitreoretino- choroidopathy, Best Vitelliform Macular Dystrophy, Nanophthalmos	AD,AR	94.35	342 of 344
*C8ORF37*	Bardet-Biedl Syndrome, Cone-Rod Dystrophy, Retinitis Pigmentosa	AD,AR,X,XR,G	–	–
*CA4*	Retinitis Pigmentosa	AD	99.97	11 of 11
*CDHR1*	Cone-Rod Dystrophy, Retinitis Pigmentosa	AR	99.67	55 of 55
*CERKL*	Retinitis Pigmentosa	AR	100	46 of 46
*CLCC1*	Retinitis Pigmentosa	AR	97.97	–
*CLRN1*	Retinitis Pigmentosa, Usher Syndrome	AD,AR,X,XR,G	99.99	40 of 41
*CNGA1*	Retinitis Pigmentosa	AD,AR,X,XR,G	99.82	36 of 37
*CNGB1*	Retinitis Pigmentosa	AR	100	75 of 75
*CRB1*	Leber Congenital Amaurosis, Pigmented Paravenous 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
*CWC27*	Retinitis Pigmentosa, Skeletal Anomalies	AR	99.77	8 of 8
*DHDDS*	Developmental Delay, Seizures, Movement Abnormalities, Retinitis Pigmentosa, Epileptic Encephalopathy	AD,AR	96.32	8 of 8
*DHX38*	Retinitis Pigmentosa	AR	100	4 of 4
*EXOSC2*	Short Stature, Hearing Loss, Retinitis Pigmentosa, Distinctive Facies	AR	100	3 of 3
*EYS*	Retinitis Pigmentosa	AR	99.54	358 of 379
*FAM161A*	Retinitis Pigmentosa	AR	99.74	22 of 23
*FLVCR1*	Posterior Column Ataxia, Retinitis Pigmentosa	AR	99.96	26 of 26
*FSCN2*	Retinitis Pigmentosa	AD	98.93	16 of 17
*GGCX*	Pseudoxanthoma Elasticum-Like Disorder, Coagulation Factor Deficiency, Body Skin Hyperlaxity, Vitamin K- Dependent Coagulation Factor Deficiency, Retinitis Pigmentosa	AR	100	62 of 62
*GUCA1B*	Retinitis Pigmentosa	AD	100	10 of 10
*HGSNAT*	Mucopoly- saccharidosis, Retinitis Pigmentosa	AR	87.91	69 of 73
*HK1*	Hemolytic Anemia, Hexokinase Deficiency, Neuro- developmental Disorder, Visual Defects, Brain Anomalies, Neuropathy, Retinitis Pigmentosa, Charcot-Marie- Tooth Disease	AD,AR	100	14 of 17
*IDH3A*	Retinitis Pigmentosa	–	100	9 of 9
*IDH3B*	Retinitis Pigmentosa	AR	100	5 of 5
*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
*IFT43*	Cranio- ectodermal Dysplasia, Retinitis Pigmentosa, Short-Rib Thoracic Dysplasia, Polydactyly	AR	100	6 of 6
*IFT88*	Retinitis Pigmentosa	–	99.46	6 of 6
*IMPDH1*	Leber Congenital Amaurosis, Retinitis Pigmentosa	AD	99.98	29 of 29
*IMPG2*	Macular Dystrophy, Retinitis Pigmentosa, Foveomacular Vitelliform Dystrophy	AD,AR	99.7	46 of 46
*KIAA1549*	Retinitis Pigmentosa	AR	96.67	9 of 10
*KIF3B*	Retinitis Pigmentosa	AD	99.92	–
*KIZ*	Retinitis Pigmentosa	AR	–	–
*KLHL7*	Crisponi/ Cold-Induced Sweating Syndrome, Retinitis Pigmentosa, Bohring– Opitz Syndrome	AD,AR	98.69	19 of 19
*LRAT*	Leber Congenital Amaurosis, Retinitis Pigmentosa	AD,AR,X,XR,G	100	25 of 25
*MAK*	Retinitis Pigmentosa	AR	100	28 of 28
*MERTK*	Retinitis Pigmentosa	AR	100	99 of 101
*MFRP*	Microphthalmia, Retinitis Pigmentosa, Foveoschisis, Optic Disc Drusen, Nanophthalmos	AR	100	36 of 36
*NEK2*	Retinitis Pigmentosa	AR	99.94	5 of 5
*NR2E3*	S-Cone Syndrome, Retinitis Pigmentosa	AD,AR	–	–
*NRL*	Retinitis Pigmentosa	AD	99.81	25 of 25
*OFD1*	Joubert Syndrome, Orofaciodigital Syndrome, Retinitis Pigmentosa, Simpson- Golabi– Behmel Syndrome, Primary Ciliary Dyskinesia	X,XR,XD,G	98.09	NA of NA
*PANK2*	Hypoprebe- talipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, Pallidal Degeneration, Neurodegeneration, Brain Iron Accumulation	AR	98.92	177 of 182
*PCARE*	Retinitis Pigmentosa	AR	–	–
*PDE6A*	Retinitis Pigmentosa	AR	100	75 of 75
*PDE6B*	Night Blindness, Retinitis Pigmentosa	AD,AR	100	156 of 156
*PDE6G*	Retinitis Pigmentosa	AD,AR,X,XR,G	100	2 of 2
*POMGNT1*	Limb Girdle Muscular Dystrophy, Retinitis Pigmentosa, Muscle-Eye- Brain Disease, Walker-Warburg Syndrome	AR	99.91	82 of 83
*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
*PRPF3*	Retinitis Pigmentosa	AD	100	8 of 9
*PRPF31*	Retinitis Pigmentosa	AD	100	160 of 166
*PRPF4*	Retinitis Pigmentosa	AD	99.99	5 of 5
*PRPF6*	Retinitis Pigmentosa	AD	100	14 of 14
*PRPF8*	Retinitis Pigmentosa	AD	100	58 of 58
*PRPH2*	Choroidal Dystrophy, Retinitis Punctata Albescens, Macular Dystrophy, Retinitis Pigmentosa, Foveomacular Vitelliform Dystrophy, Cone Rod Dystrophy, Stargardt Disease	AD,AR	100	188 of 188
*RBP3*	Retinitis Pigmentosa	AD,AR,X,XR,G	100	17 of 17
*RDH11*	Retinal Dystrophy, Retinitis Pigmentosa, Cataract, Short Stature, Intellectual Disability	AR	99.97	3 of 3
*RDH12*	Leber Congenital Amaurosis, Retinitis Pigmentosa	AD,AR	100	122 of 122
*REEP6*	Retinitis Pigmentosa	AR	97.59	9 of 9
*RGR*	Retinitis Pigmentosa	AD,AR	100	9 of 9
*RHO*	Retinitis Punctata Albescens, Night Blindness, Retinitis Pigmentosa	AD,AR	100	229 of 229
*RLBP1*	Bothnia Retinal Dystrophy, Cone-Rod Dystrophy, Retinitis Pigmentosa, Retinitis Punctata Albescens	AD,AR	100	32 of 33
*ROM1*	Retinitis Pigmentosa	AD,AR,X,XR,G	100	20 of 20
*RP1*	Retinitis Pigmentosa	AD,AR	99.95	215 of 218
*RP1L1*	Macular Dystrophy, Retinitis Pigmentosa	AD,AR	99.98	56 of 56
*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*	Macular Degeneration, Retinitis Pigmentosa, Sinorespiratory Infections, Deafness, Achromatopsia, Cone Rod Dystrophy, Dyskinesia	X,XR,G	94	–
*SAG*	Oguchi Disease, Retinitis Pigmentosa, Night Blindness	AR	100	18 of 18
*SCAPER*	Intellectual Developmental Disorder, Retinitis Pigmentosa	AR	99.92	17 of 18
*SEMA4A*	Cone Rod Dystrophy, Colorectal Cancer, Retinitis Pigmentosa	AD,AR	99.94	15 of 15
*SLC7A14*	Retinitis Pigmentosa	AR	99.97	10 of 10
*SNRNP200*	Retinitis Pigmentosa	AD	100	40 of 40
*SPATA7*	Leber Congenital Amaurosis, Retinitis Pigmentosa	AR	97.02	43 of 43
*TOPORS*	Retinitis Pigmentosa	AD	99.96	24 of 25
*TRNT1*	Retinitis Pigmentosa, Erythrocytic Microcytosis, Sideroblastic Anemia, B-Cell Immunodeficiency	AR	99.47	22 of 27
*TTC8*	Bardet-Biedl Syndrome, Retinitis Pigmentosa	AR	99.33	28 of 28
*TUB*	Retinal Dystrophy, Obesity, Retinitis Pigmentosa	AR	99.91	4 of 4
*TULP1*	Retinitis Pigmentosa, Leber Congenital Amaurosis	AR	99.9	82 of 82
*USH2A*	Retinitis Pigmentosa, Usher Syndrome	AR	100	1286 of 1314
*ZNF408*	Exudative Vitreoretinopathy, Retinitis Pigmentosa	AD,AR	99.98	26 of 26
*ZNF513*	Retinitis Pigmentosa	AR	99.97	3 of 3

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

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

Methodology

References

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