Retinitis Pigmentosa 79; Rp79
Clinical Features
Top most frequent phenotypes and symptoms related to Retinitis Pigmentosa 79; Rp79
- Cognitive impairment
- Anemia
- Blindness
- Visual loss
- Rod-cone dystrophy
- Reduced visual acuity
- Photophobia
- Pallor
- Nyctalopia
- Retinal degeneration
And another 7 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 79; Rp79 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 % |
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 % |
Red Blood Cell Enzymopathies Panel by Next Generation Sequencing (NGS).
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
TPI1, NT5C3A, AK1, G6PD, ALDOA, GCLC, GPI, GPX1, GSS, HK1, PFKM, PGK1, PKLR
Specificity
8 %
Genes
100 % |
Hemolytic Anemia Panel by next-generation sequencing (NGS).
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ATP11C, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, COL4A1, C15orf41, PIEZO1, EPB41, EPB42, AK1, ALAS2 , (...)
View the complete list with 16 more genes
Specificity
3 %
Genes
100 % |
HK1 Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
HK1
Specificity
100 %
Genes
100 % |
HK1 Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
HK1
Specificity
100 %
Genes
100 % |
Hemolytic Anemia Deletion/Duplication Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, C15orf41, PIEZO1, EPB41, EPB42, AK1, G6PD, ALDOA, GATA1 , (...)
View the complete list with 12 more genes
Specificity
4 %
Genes
100 % |
Red Blood Cell Enzymopathies Deletion/Duplication Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
TPI1, NT5C3A, AK1, G6PD, ALDOA, GCLC, GPI, GPX1, GSS, HK1, PFKM, PGK1, PKLR
Specificity
8 %
Genes
100 % |
You can get up to 33 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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