Genomics England
GMS Panels
Panels
Genes and Entities

LCAT

lecithin-cholesterol acyltransferase
OMIM: 606967
PanelMode of inheritanceDetails
4 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 4.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fish-eye disease 136120, Norum disease 245900
Green
in Corneal dystrophy
R-numbers: R262
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fish-eye disease 136120, Norum disease 245900
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Norum disease/LCAT deficiency, 245900, Fish-eye disease, 136120, Lecithin cholesterol acyltransferase deficiency (Disorders of high density lipoprotein metabolism)
Green
in Proteinuric renal disease
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R195
Signed-off version 4.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Norum disease, OMIM:245900, Norum disease, MONDO:0009515, LCAT DEFICIENCY