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Mendeliome

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

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Reported in >3 unrelated families
Created: 27 Mar 2022, 11:05 p.m. | Last Modified: 27 Mar 2022, 11:05 p.m.
Panel Version: 0.12043

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
  • Victorian Clinical Genetics Services
Phenotypes
  • Leber Congenital Amaurosis 5, MIM# 604537
OMIM
611408
Clinvar variants
Variants in LCA5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

27 Mar 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: LCA5 were changed from to Leber Congenital Amaurosis 5, MIM# 604537

27 Mar 2022, Gel status: 3

Set publications

Alison Yeung (Victorian Clinical Genetics Services)

Publications for gene: LCA5 were set to

27 Mar 2022, Gel status: 3

Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

Mode of inheritance for gene: LCA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LCA5 was added gene: LCA5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LCA5 was set to Unknown