Genomics England
GMS Panels
Panels
Genes and Entities

LSS

lanosterol synthase
OMIM: 600909
PanelMode of inheritanceDetails
2 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cataract 44, 616509
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alopecia, Abnormality of the skin, Cataract 44, Hypotrichosis 14, 616509, 618275, Microcephaly, Seizures, Abnormality of the genital system, Hypotonia, Intellectual disability, Global developmental delay