Ophthalmological ciliopathies

Gene: LCA5

Red List (low evidence)

LCA5 (LCA5, lebercilin)
EnsemblGeneIds (GRCh38): ENSG00000135338
EnsemblGeneIds (GRCh37): ENSG00000135338
OMIM: 611408, Gene2Phenotype
LCA5 is in 9 panels

1 review

Alice Gardham (Genomics England)

Comment on list classification: Leber congenital amaurosis not being included in this panel
Created: 23 Jan 2017, 12:07 p.m.

Details

Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leber congenital amaurosis 5, 604537
  • Ciliopathies
OMIM
611408
Clinvar variants
Variants in LCA5
Penetrance
None
Panels with this gene

History Filter Activity

8 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: LCA5 was added gene: LCA5 was added to Ophthalmological ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert Review Red Mode of inheritance for gene: LCA5 was set to Phenotypes for gene: LCA5 were set to Leber congenital amaurosis 5, 604537; Ciliopathies