Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: LRAT

Green List (high evidence)

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber Congenital Amaurosis
  • Leber congenital amaurosis 14
  • Retinitis pigmentosa, juvenile
  • Retinal dystrophy, early-onset severe, 613341
OMIM
604863
Clinvar variants
Variants in LRAT
Penetrance
None
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: LRAT was added gene: LRAT was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRAT were set to Leber Congenital Amaurosis; Leber congenital amaurosis 14; Retinitis pigmentosa, juvenile; Retinal dystrophy, early-onset severe, 613341