Gene: LCA5

Alternate names for this Gene: C6orf152

Gene Summary: This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described.

Gene is located in Chromosome: 6

Location in Chromosome : 6q14.1

Description of this Gene: lebercilin LCA5

Type of Gene: protein-coding

rs121918165 in LCA5 gene and LEBER CONGENITAL AMAUROSIS 5 PMID 21606596 2011 Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice.

PMID 17546029 2007 Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

PMID 19503738 2009 Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.

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.

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.

rs866395428 in LCA5 gene and Multiple congenital anomalies PMID 17546029 2007 Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

PMID 18000884 2007 Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

PMID 10631161 2000 A novel locus for Leber congenital amaurosis maps to chromosome 6q.

PMID 12642313 2003 Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.

rs866395428 in LCA5 gene and Retinal Dystrophies 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.

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.