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Retinal disorders

Gene: RPE65

Green List (high evidence)

RPE65 (RPE65, retinoid isomerohydrolase)
EnsemblGeneIds (GRCh38): ENSG00000116745
EnsemblGeneIds (GRCh37): ENSG00000116745
OMIM: 180069, Gene2Phenotype
RPE65 is in 13 panels

3 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Leber Congenital Amaurosis

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

Ellen McDonagh (Genomics England Curator)

Added the tag ‘gene-therapy-trial’ as this gene-disease is within the Gene Therapy Panel available here:
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.


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • Leber congenital amaurosis 2
  • Retinitis pigmentosa 20
  • Leber Congenital Amaurosis
  • Leber congenital amaurosis 2, 204100
  • Eye Disorders
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
Clinvar variants
Variants in RPE65
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to RPE65. Rating Changed from Green List (high evidence) to Green List (high evidence)

23 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPE65 was set to BIALLELIC, autosomal or pseudoautosomal

9 Mar 2016, Gel status: 0


Ellen McDonagh (Genomics England Curator)

RPE65 was created by ellenmcdonagh

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RPE65 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green