Genomics England
GMS Panels
Panels
Genes and Entities

LRAT

lecithin retinol acyltransferase
OMIM: 604863
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEBER CONGENITAL AMAUROSIS 608553
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leber congenital amaurosis 14, Retinal dystrophy, early - onset severe, Retinitis pigmentosa, juvenile, Leber Congenital Amaurosis, Retinal dystrophy, early-onset severe, 613341, Retinitis pigmentosa, Retinitis Pigmentosa, Recessive, Eye Disorders