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Prepair 1000+

Gene: LCA5

Green List (high evidence)

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

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

LCA is a molecularly heterogeneous, early-onset, severe inherited retinal degeneration that typically presents within the first year of life with nystagmus and profound vision loss.

HGNC approved symbol/name: LCA5
Is the phenotype(s) severe and onset <18yo? Y
Known technical challenges? No
Gene reported in 3 independent families: Yes
Created: 29 Jan 2025, 2:42 a.m. | Last Modified: 29 Jan 2025, 2:42 a.m.
Panel Version: 1.1357

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 5, MIM# 604537

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leber congenital amaurosis 5, MIM# 604537
OMIM
611408
Clinvar variants
Variants in LCA5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lca5 has been classified as Green List (High Evidence).

29 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LCA5 were changed from Leber congenital amaurosis 5, 604537 (3) to Leber congenital amaurosis 5, MIM# 604537

29 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LCA5 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Leber congenital amaurosis 5, 604537 (3) for gene: LCA5

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LCA5 was added gene: LCA5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 (3)