Retinitis Pigmentosa 49; Rp49
Clinical Features
Phenotypes and symptoms related to Retinitis Pigmentosa 49; Rp49
- Rod-cone dystrophy
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 49; Rp49 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 % |
CNGA1 Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
CNGA1
Specificity
100 %
Genes
100 % |
CNGA1 Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
CNGA1
Specificity
100 %
Genes
100 % |
CNGA1 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
CNGA1
Specificity
100 %
Genes
100 % |
CNGA1 Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
CNGA1
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 % |
CNGA1.
By Institute for Human Genetics University Clinic Freiburg (Germany).
CNGA1
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 33 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 SPASTIC PARAPLEGIA-PAGET DISEASE OF BONE SYNDROME ISOLATED BRACHYCEPHALY EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME; EHLMRS RUBINSTEIN-TAYBI SYNDROME 2; RSTS2 BULLOUS DIFFUSE CUTANEOUS MASTOCYTOSIS POLYCYSTIC KIDNEY DISEASE 2; PKD2
MitoMet®Plus aCGH Analysis.
CNGA1.