Vitamin metabolism disorders

Gene: LRAT

Green List (high evidence)

LRAT (lecithin retinol acyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000121207
EnsemblGeneIds (GRCh37): ENSG00000121207
OMIM: 604863, Gene2Phenotype
LRAT is in 8 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 14
OMIM
604863
Clinvar variants
Variants in LRAT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: LRAT was added gene: LRAT was added to Vitamin metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRAT were set to 11381255 Phenotypes for gene: LRAT were set to Leber congenital amaurosis 14