LSS

lanosterol synthase
OMIM: 600909, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green LSS in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cataract 44 MIM#616509

Green LSS in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Cataract 44, OMIM #616509
  • Hypotrichosis 14, OMIM #618275
  • Intellectual disability

Green LSS in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Alopecia-intellectual disability syndrome 4, MIM#618840

    Green LSS in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cataract 44, OMIM #616509
    • Hypotrichosis 14, OMIM #618275
    • intellectual disability and alopecia

    Green LSS in Ectodermal Dysplasia


    Level 2: Dermatological disorders
    Version 0.86

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Literature
    Phenotypes
    • Alopecia-mental retardation syndrome 4 MIM#618840
    • Hypotrichosis 14 MIM#618275

    Green LSS in Hair disorders


    Level 2: Dermatological disorders
    Version 0.71

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    • Expert Review Green
    • Literature