Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: LCA5

Green List (high evidence)

LCA5 (LCA5, lebercilin)
EnsemblGeneIds (GRCh38): ENSG00000135338
EnsemblGeneIds (GRCh37): ENSG00000135338
OMIM: 611408, Gene2Phenotype
LCA5 is in 6 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber congenital amaurosis 5, 604537
OMIM
611408
Clinvar variants
Variants in LCA5
Penetrance
None
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: LCA5 was added gene: LCA5 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LCA5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LCA5 were set to Leber congenital amaurosis 5, 604537