Retinitis pigmentosa_Autosomal Dominant
Gene: RPE65

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: Onset of symptoms from second to fifth decade of life (night blindness), variable presentation, variable severity, incomplete penetrance. Multiple RP individuals mainly of Irish ancestry identified with p.Asp477Gly variant.
Created: 9 May 2022, 6:31 a.m. | Last Modified: 9 May 2022, 6:31 a.m.

Panel Version: 0.47

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
21654732; 27307694; 27307694

Publications

Retinitis pigmentosa 87 with choroidal involvement MIM#618697

Created: 9 May 2022, 6:31 a.m.
Last Modified: 9 May 2022, 6:31 a.m.
Panel version: 0.47

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Retinitis pigmentosa 20
Leber congenital amaurosis 2, 204100

OMIM

180069

Clinvar variants

Variants in RPE65

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: RPE65 was added gene: RPE65 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RPE65 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RPE65 were set to Retinitis pigmentosa 20; Leber congenital amaurosis 2, 204100

Retinitis pigmentosa_Autosomal Dominant Gene: RPE65