Structural eye disease
Gene: LCA5

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 5; 604537

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 5, 604537

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Leber congenital amaurosis 5, 604537
Eye Disorders

OMIM

611408

Clinvar variants

Variants in LCA5

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to LCA5. Mode of inheritance for gene LCA5 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leber congenital amaurosis 5, 604537 for gene: LCA5

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: LCA5 was added gene: LCA5 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: LCA5 was set to Phenotypes for gene: LCA5 were set to Eye Disorders

Structural eye disease Gene: LCA5