Leber Congenital Amaurosis 17; Lca17
Clinical Features
Phenotypes and symptoms related to Leber Congenital Amaurosis 17; Lca17
- Undetectable electroretinogram
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.Leber Congenital Amaurosis 17; Lca17 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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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 % |
Anophthalmia/microphthalmia.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).
BMP4, SIX6, SOX2, TFAP2A, VAX1, ALX1, PORCN, MFRP, RAX, VSX2, BCOR, COL4A1, FREM1, CRYBA4, TENM3, STRA6, FOXE3, PRSS56, ALDH1A3, GDF3 , (...)
View the complete list with 9 more genes
Specificity
4 %
Genes
100 % |
GDF6 - Klippel Feil syndrome.
By Centre of Molecular Diseases (CMM) CHUV (Switzerland).
GDF6
Specificity
100 %
Genes
100 % |
GDF6. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
GDF6
Specificity
100 %
Genes
100 % |
Leber congenital amaurosis (NGS panel for 20 genes).
By CGC Genetics (Portugal).
RPE65, TULP1, RPGRIP1, NMNAT1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, LCA5, AIPL1, GDF6, GUCY2D, IMPDH1, KCNJ13, LRAT, OTX2, PRPH2
Specificity
5 %
Genes
100 % |
Klippel-Feil syndrome (sequence analysis of GDF6 gene).
By CGC Genetics (Portugal).
GDF6
Specificity
100 %
Genes
100 % |
Microphthalmia (NGS panel for 26 genes).
By CGC Genetics (Portugal).
BMP4, SHH, SIX6, SOX2, VAX1, MFRP, RAX, NAA10, VSX2, SMOC1, CHD7, BCOR, FREM1, TENM3, STRA6, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6 , (...)
View the complete list with 6 more genes
Specificity
4 %
Genes
100 % |
Klippel-Feil syndrome (NGS panel for 5 genes).
By CGC Genetics (Portugal).
MYO18B, RIPPLY2, GDF3, GDF6, MEOX1
Specificity
20 %
Genes
100 % |
You can get up to 42 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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