LCAT

lecithin-cholesterol acyltransferase
OMIM: 606967
PanelMode of inheritanceDetails
3 panels
Green
in Cataracts
R-numbers: R31
Signed-off version 2.76
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fish-eye disease 136120, Norum disease 245900
R-numbers: R262
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fish-eye disease 136120, Norum disease 245900
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Norum disease/LCAT deficiency, 245900, Fish-eye disease, 136120, Lecithin cholesterol acyltransferase deficiency (Disorders of high density lipoprotein metabolism)