Leber Congenital Amaurosis 12; Lca12
Clinical Features
Phenotypes and symptoms related to Leber Congenital Amaurosis 12; Lca12
- Nystagmus
- Visual impairment
- Hypermetropia
- Congenital blindness
- Congenital nystagmus
- Abnormality of macular pigmentation
- Moderate hypermetropia
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— The onset for some of the known clinical features related to this disease may vary, including congenital 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.Leber Congenital Amaurosis 12; Lca12 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 % |
RD3 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
RD3
Specificity
100 %
Genes
100 % |
RD3 Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RD3
Specificity
100 %
Genes
100 % |
RD3 Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RD3
Specificity
100 %
Genes
100 % |
RD3 Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RD3
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 % |
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 % |
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 % |
You can get up to 37 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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