Retinitis Pigmentosa 12; Rp12
Clinical Features
Phenotypes and symptoms related to Retinitis Pigmentosa 12; Rp12
- Nystagmus
- Blindness
- Rod-cone dystrophy
- Reduced visual acuity
- Nyctalopia
- Hypermetropia
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.
Alternative names
Retinitis Pigmentosa 12; Rp12 Is also known as rp with or without preserved paraarteriole retinal pigment epithelium, retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium, rp with or without pprpe.
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 12; Rp12 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 % |
CRB1 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
CRB1
Specificity
100 %
Genes
100 % |
CRB1 Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
CRB1
Specificity
100 %
Genes
100 % |
CRB1 Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
CRB1
Specificity
100 %
Genes
100 % |
CRB1 Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
CRB1
Specificity
100 %
Genes
100 % |
Leber Congential Amaurosis Panel (MitomeNGS).
By Baylor Miraca Genetics Laboratories (United States).
RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, LCA5, AIPL1, GUCY2D, IMPDH1, KCNJ13, LRAT, OTX2
Specificity
6 %
Genes
100 % |
Cone-Rod Dystrophy Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPGR, CNNM4, SEMA4A, TULP1, CFAP410, BEST1, RPGRIP1, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, EYS, ADAM9, CERKL , (...)
View the complete list with 16 more genes
Specificity
3 %
Genes
100 % |
Leber Congenital Amaurosis Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, CLUAP1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, IFT140, LCA5, AIPL1, DTHD1, GDF6, GUCY2D, IMPDH1 , (...)
View the complete list with 4 more genes
Specificity
5 %
Genes
100 % |
You can get up to 72 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 IMMUNODEFICIENCY 31B; IMD31B HEREDITARY BREAST AND OVARIAN CANCER SYNDROME CHROMOSOME Xq26.3 DUPLICATION SYNDROME OTODENTAL DYSPLASIA MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE