Condition: Leber Congenital Amaurosis


rs61749423 in ABCA4 gene and Leber Congenital Amaurosis PMID 10090887 1999 The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.

PMID 9781034 1998 Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.

rs62637014 in AIPL1 gene and Leber Congenital Amaurosis PMID 10615133 2000 Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs781781440 in CDHR1 gene and Leber Congenital Amaurosis PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs386834152 in CEP290 gene and Leber Congenital Amaurosis PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs62635288 in CEP290;TMTC3 gene and Leber Congenital Amaurosis PMID 16682970 2006 Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.

rs397515360 in CNGB3 gene and Leber Congenital Amaurosis PMID 10888875 2000 Genetic basis of total colourblindness among the Pingelapese islanders.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs62645752 in CRB1 gene and Leber Congenital Amaurosis PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs869312175 in CRX gene and Leber Congenital Amaurosis PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

rs62638214 in GRM6 gene and Leber Congenital Amaurosis PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs61750168 in GUCY2D gene and Leber Congenital Amaurosis PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs387907009 in IQCB1 gene and Leber Congenital Amaurosis PMID 21220633 2011 Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

PMID 15723066 2005 Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

rs866395428 in LCA5 gene and Leber Congenital Amaurosis PMID 25412400 2015 Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

rs766143193 in LCA5;LOC100506851 gene and Leber Congenital Amaurosis PMID 23946133 2013 Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.

rs150726175 in NMNAT1 gene and Leber Congenital Amaurosis PMID 22842227 2012 NMNAT1 mutations cause Leber congenital amaurosis.

PMID 22842230 2012 Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.

PMID 22842231 2012 Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.

PMID 26018082 2015 Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants.

PMID 22842229 2012 Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.

PMID 24830548 2014 The p.Glu257Lys variant was 80-fold less frequent in a homozygous state in patients with Leber congenital amaurosis than predicted based on its heterozygosity frequency in the European American population.

rs121908449 in RGS9 gene and Leber Congenital Amaurosis PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs137853124 in RPGRIP1 gene and Leber Congenital Amaurosis PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs758593134 in TMTC3;CEP290 gene and Leber Congenital Amaurosis PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs754768875 in USH2A;LOC102723833 gene and Leber Congenital Amaurosis PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.