LSS

lanosterol synthase
OMIM: 600909, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green LSS in Cataract


Level 2: Ophthalmological disorders
Version 1.0

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

Green LSS in Mendeliome


Version 2.0

2 reviews 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 2.0

1 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 2.0

1 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 1.0

2 reviews 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 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
  • Expert Review Green
  • Literature