Cataracts

Gene: LSS

Green List (high evidence)

LSS (lanosterol synthase)
EnsemblGeneIds (GRCh38): ENSG00000160285
EnsemblGeneIds (GRCh37): ENSG00000160285
OMIM: 600909, Gene2Phenotype
LSS is in 3 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

LSS is associated with a phenotype on OMIM but not Gene2Phenotype. There are 3 unrelated cases of children with cataracts who have variants in this gene (PMID: 26200641; 29016354; 16440058). Therefore there is enough evidence for this gene to be green.
Created: 28 Aug 2019, 3:43 p.m. | Last Modified: 28 Aug 2019, 3:43 p.m.
Panel Version: 1.32
This gene was submitted on behalf of Graeme Black (North West GLH). Gene Symbol submitted: LSS; Suggested initial gene rating: Green; Evidence for inclusion: [none provided]; Evidence for exclusion: [none provided]; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): [none provided]
Created: 28 Aug 2019, 3:42 p.m. | Last Modified: 28 Aug 2019, 3:42 p.m.
Panel Version: 1.31

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cataract 44, 616509
OMIM
600909
Clinvar variants
Variants in LSS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Aug 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: LSS was added gene: LSS was added to Cataracts. Sources: Expert Review Green,Expert list Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LSS were set to 16440058; 29016354; 26200641 Phenotypes for gene: LSS were set to Cataract 44, 616509