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Cataract

Gene: LSS

Green List (high evidence)
LSS (lanosterol synthase)
EnsemblGeneIds (GRCh38): ENSG00000160285
EnsemblGeneIds (GRCh37): ENSG00000160285
OMIM: 600909, Gene2Phenotype
LSS is in 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Three families reported with congenital cataracts with biallelic variants in LSS. Mouse model with cataracts.
Sources: Literature
Created: 19 Apr 2020, 6:47 a.m. | Last Modified: 19 Apr 2020, 6:59 a.m.
Panel Version: 0.132

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cataract 44 MIM#616509

Publications

Created: 19 Apr 2020, 6:47 a.m.
Last Modified: 19 Apr 2020, 6:59 a.m.
Panel version: 0.132

Details

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

History Filter Activity

19 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

19 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: LSS was added gene: LSS was added to Cataract. Sources: Literature Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LSS were set to 26200341; 29016354 Phenotypes for gene: LSS were set to Cataract 44 MIM#616509 Review for gene: LSS was set to GREEN