LCAT

lecithin-cholesterol acyltransferase
OMIM: 606967, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red LCAT in Familial hypercholesterolaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.28

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Hypercholesterolemia

Green LCAT in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.88
Latest signed off version: v2.76 (5 Aug 2021)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Fish-eye disease 136120
  • Norum disease 245900

Green LCAT in Corneal dystrophies


Version 1.6
Latest signed off version: v1.2 (19 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Fish-eye disease 136120
  • Norum disease 245900

Green LCAT in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.488

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lecithin cholesterol acyltransferase deficiency (Disorders of high density lipoprotein metabolism)
  • Norum disease/LCAT deficiency, 245900
  • Fish-eye disease, 136120

Green LCAT in Inborn errors of metabolism


Version 2.190
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Norum disease/LCAT deficiency, 245900
    • Fish-eye disease, 136120
    • Lecithin cholesterol acyltransferase deficiency (Disorders of high density lipoprotein metabolism)

    Red LCAT in Structural eye disease


    Version 1.88
    Latest signed off version: v1.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    Phenotypes
    • Norum disease, 245900
    • Fish-eye disease, 136120

    Amber LCAT in Proteinuric renal disease

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 2.61
    Latest signed off version: v2.32 (16 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Expert Review
    Phenotypes
    • Norum disease, OMIM:245900
    • Norum disease, MONDO:0009515
    • LCAT DEFICIENCY
    Tags
    • Q4_21_rating

    Red LCAT in Childhood onset dystonia or chorea or related movement disorder


    Version 1.166
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green LCAT in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fish-eye disease, 136120
    • Norum disease, 245900