Retinitis Pigmentosa 27; Rp27
Clinical Features
Top most frequent phenotypes and symptoms related to Retinitis Pigmentosa 27; Rp27
- Visual impairment
- Edema
- Blindness
- Rod-cone dystrophy
- Pallor
- Nyctalopia
- Retinal degeneration
- Retinal dystrophy
- Progressive visual loss
- Chorioretinal atrophy
And another 5 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Retinitis Pigmentosa 27; Rp27 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
NRL Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
NRL
Specificity
100 %
Genes
100 % |
NRL Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
NRL
Specificity
100 %
Genes
100 % |
NRL Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
NRL
Specificity
100 %
Genes
100 % |
NRL Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
NRL
Specificity
100 %
Genes
100 % |
Retinitis Pigmentosa Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SPP2, TULP1, USH2A, CLRN1, BEST1, ARL6, RPGRIP1, CA4, C1QTNF5, CDHR1 , (...)
View the complete list with 72 more genes
Specificity
2 %
Genes
100 % |
NRL.
By Institute for Human Genetics University Clinic Freiburg (Germany).
NRL
Specificity
100 %
Genes
100 % |
Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication.
By ARUP Laboratories, Molecular Genetics and Genomics (United States).
RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, TULP1, USH2A, BEST1, RPGRIP1, CA4, CDHR1, PRPF31, KLHL7, PRPF8, PRPF3 , (...)
View the complete list with 33 more genes
Specificity
2 %
Genes
100 % |
You can get up to 36 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM MESH Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like KENNY-CAFFEY SYNDROME, TYPE 2; KCS2 IDIOPATHIC ACHALASIA FOVEAL HYPOPLASIA-PRESENILE CATARACT SYNDROME ACROMELIC FRONTONASAL DYSOSTOSIS; AFND SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY; SMDCRD MOYAMOYA DISEASE 6 WITH ACHALASIA; MYMY6 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2