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Retinal disorders v5.4 RPE65 Arina Puzriakova Tag Q4_23_MOI was removed from gene: RPE65.
Retinal disorders v5.3 RPE65 Arina Puzriakova Mode of inheritance for gene RPE65 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v5.2 RPE65 Arina Puzriakova edited their review of gene: RPE65: Added comment: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v4.45 RPE65 Arina Puzriakova Tag Q4_23_promote_green was removed from gene: RPE65.
Tag Q4_23_MOI tag was added to gene: RPE65.
Retinal disorders v4.45 RPE65 Arina Puzriakova Tag Q3_23_MOI was removed from gene: RPE65.
Tag Q4_23_promote_green tag was added to gene: RPE65.
Retinal disorders v4.45 RPE65 Arina Puzriakova 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)
Retinal disorders v4.44 RPE65 Arina Puzriakova Publications for gene: RPE65 were set to
Retinal disorders v4.43 RPE65 Arina Puzriakova Tag Q3_23_MOI tag was added to gene: RPE65.
Retinal disorders v4.43 RPE65 Arina Puzriakova Added comment: 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.
Retinal disorders v4.43 RPE65 Arina Puzriakova Mode of inheritance for gene: RPE65 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.159 RPE65 Gavin Arno reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.137 RPE65 Ivone Leong Source NHS GMS was added to RPE65.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders RPE65 Ellen McDonagh edited their review of RPE65
Retinal disorders RPE65 BRIDGE consortium reviewed RPE65