PanelApp (staging)
  1. Genes and Genomic Entities
  2. LCAT

LCAT

lecithin-cholesterol acyltransferase
OMIM: 606967, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Amber LCAT in Cataract


Level 2: Ophthalmological disorders
Version 0.373

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

Green LCAT in Corneal Dystrophy


Level 2: Ophthalmological disorders
Version 1.11

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Norum disease, MIM# 245900

Green LCAT in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900
  • Fish-Eye disease, MIM# 136120

Green LCAT in Proteinuria


Level 2: Renal and urinary tract disorders
Version 0.229

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Norum disease, MIM# 245900

    Green LCAT in Dyslipidaemia


    Level 2: Endocrine disorders
    Version 0.42

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Fish-eye disease MIM#136120
    • Norum disease MIM#245900
    • Disorders of high density lipoprotein metabolism

    Green LCAT in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Norum disease, 245900 (3)

    Green LCAT in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Norum disease, MIM#245900
    • Fish-eye disease, MIM# 136120
    Tags
    • for review

    Green LCAT in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.17

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_MetabolicRenal v38.1.0
    • Expert Review Green
    Phenotypes
    • Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900
    • Fish-Eye disease, MIM# 136120

    Green LCAT in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Disorders of high density lipoprotein metabolism
    • Norum disease MIM#245900
    • Fish-eye disease MIM#136120