Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: RPE65

Green List (high evidence)

RPE65 (RPE65, retinoid isomerohydrolase)
EnsemblGeneIds (GRCh38): ENSG00000116745
EnsemblGeneIds (GRCh37): ENSG00000116745
OMIM: 180069, Gene2Phenotype
RPE65 is in 12 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

OMIM:Early onset (3 to 7 years of age) night blindness and severe visual impairment by adulthood. Multiple RP individuals with homozygous or compound heterozygous variants.
Created: 9 May 2022, 5:13 a.m. | Last Modified: 9 May 2022, 5:13 a.m.
Panel Version: 0.124

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 20 MIM#613794

Publications

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: RPE65 was added gene: RPE65 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPE65 were set to Retinitis pigmentosa 20; Leber congenital amaurosis 2, 204100