CEP290
From SNPedia
is a | gene |
is | mentioned by |
Full name | centrosomal protein 290kDa |
EntrezGene | 80184 |
PheGenI | 80184 |
VariationViewer | 80184 |
ClinVar | CEP290 |
GeneCards | CEP290 |
dbSNP | 80184 |
Diseases | CEP290 |
SADR | 80184 |
HugeNav | 80184 |
wikipedia | CEP290 |
CEP290 | |
gopubmed | CEP290 |
EVS | CEP290 |
HEFalMp | CEP290 |
MyGene2 | CEP290 |
23andMe | CEP290 |
UniProt | O15078 |
Ensembl | ENSG00000198707 |
OMIM | 610142 |
# SNPs | 89 |
LCA (Leber Congenital Amaurosis) is the most common form of congenital blindness. LCA causes blindness from birth or during the first few months of life. The disorder affects 1 in 30,000 newborns, and is currently incurable.
Discovery of the CEP290 gene and a single mutation (rs281865192) found in 20 percent of LCA patients may significantly speed up the genetic testing process for blind children.[PMID 16909394]