Bilateral congenital or childhood onset cataracts
Gene: LSS
LSS (lanosterol synthase)
EnsemblGeneIds (GRCh38): ENSG00000160285
EnsemblGeneIds (GRCh37): ENSG00000160285
OMIM: 600909, Gene2Phenotype
LSS is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000160285
EnsemblGeneIds (GRCh37): ENSG00000160285
OMIM: 600909, Gene2Phenotype
LSS is in 7 panels
1 review
Ivone Leong (Genomics England Curator)
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