Retinal disorders
Gene: RPE65Comment 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
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/412Created: 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.
Tag Q4_23_promote_green was removed from gene: RPE65. Tag Q4_23_MOI tag was added to gene: RPE65.
Tag Q3_23_MOI was removed from gene: RPE65. Tag Q4_23_promote_green tag was added to gene: RPE65.
Phenotypes for gene: RPE65 were changed from Leber congenital amaurosis 2; Retinitis pigmentosa 20; Leber Congenital Amaurosis; Leber congenital amaurosis 2, 204100; Eye Disorders; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa to Leber congenital amaurosis 2, OMIM:204100 (AR); Retinitis pigmentosa 20, OMIM:613794 (AR); Retinitis pigmentosa 87 with choroidal involvement, OMIM:618697 (AD)
Publications for gene: RPE65 were set to
Tag Q3_23_MOI tag was added to gene: RPE65.
Mode of inheritance for gene: RPE65 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to RPE65. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
RPE65 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
RPE65 was created by ellenmcdonagh