LSS

lanosterol synthase
OMIM: 600909, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green LSS in Non-syndromic hypotrichosis

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypotrichosis 14 OMIM:618275
  • hypotrichosis 14 MONDO:0032649

Amber LSS in Ectodermal dysplasia


Version 1.41
Latest signed off version: v1.10 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypotrichosis 14 OMIM:618275
  • hypotrichosis 14 MONDO:0032649

Green LSS in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.110
Latest signed off version: v2.76 (5 Aug 2021)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cataract 44, 616509

Amber LSS in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.572
Latest signed off version: v2.2 (13 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Amber
  • Expert Review
  • Expert Review Amber
  • Expert Review
  • Literature
Phenotypes
  • Alopecia
  • Abnormality of the skin
  • Microcephaly
  • Cataract 44, 616509, Hypotrichosis 14, 618275
  • Seizures
  • Abnormality of the genital system
  • Hypotonia
  • Intellectual disability
  • Global developmental delay

Green LSS in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Expert Review
    • Literature
    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