Retinal disorders

Gene: RPE65

The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.

Created: 2 May 2024, 1:45 p.m. | Last Modified: 2 May 2024, 1:45 p.m.

Panel Version: 5.2

Comment on mode of inheritance: Biallelic variants cause retinitis pigmentosa and leber congenital amaurosis. Heterozygous variants have also been found in at least 4 unrelated families with choroid/retinal atrophy that mimics certain aspects of choroideremia (PMIDs: 21654732; 27307694; 29947567).

This supports a change in MOI from biallelic to both mono- and biallelic at the next GMS panel update.

Created: 7 Dec 2023, 3:52 p.m. | Last Modified: 7 Dec 2023, 3:52 p.m.

Panel Version: 4.43

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Green List (high evidence)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber Congenital Amaurosis

Variants in this GENE are reported as part of current diagnostic practice

Added the tag ‘gene-therapy-trial’ as this gene-disease is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412

Created: 14 May 2018, 9:51 a.m.

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.

Created: 2 Jun 2016, 8:05 a.m.