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 1.0

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

Green LCAT in Corneal Dystrophy


Level 2: Ophthalmological disorders
Version 2.0

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

Green LCAT in Mendeliome


Version 2.0

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

Green LCAT in Proteinuria


Level 2: Renal and urinary tract disorders
Version 1.0

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; Cardiovascular disorders
Version 1.0

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 1.0

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

Red LCAT in Prepair 1000+


Level 2: Screening
Version 3.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Norum disease, MIM#245900
  • Fish-eye disease, MIM# 136120

Green LCAT in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 2.0

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

Green LCAT in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

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