Genomics England
GMS Panels
Panels
Genes and Entities

LSS

lanosterol synthase
OMIM: 600909
PanelMode of inheritanceDetails
4 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 8.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cataract 44, 616509
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
Signed-off version 9.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alopecia-intellectual disability syndrome 4, OMIM:618840, alopecia-intellectual disability syndrome 4, MONDO:0030009
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alopecia-intellectual disability syndrome 4, OMIM:618840, Cataract 44, OMIM:616509
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
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