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Mendeliome

Gene: RPE65

Green List (high evidence)

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)

Biallelic RPE65 variant in multiple individuals associated with:
- Leber congenital amaurosis / retinal diseases and early onset nystagmus . Nystagmus onset appears to range from birth to around 6 years of age.
- Retinitis Pigmentosa 20. Early onset (3 to 7 years of age) night blindness and severe visual impairment by adulthood.

Monoallelic RPE65 variant in multiple individuals associate with:
- AD Retinitis pigmentosa 87 with choroidal involvement. Onset of symptoms from second to fifth decade of life (night blindness), variable presentation, variable severity, incomplete penetrance

GeneReviews:
- RPE65-related Leber congenital amaurosis usually appearing in the first year of life and is often accompanied by nystagmus.
- Nonsyndromic Retinitis Pigmentosa, loss of rod function predominates early in the clinical course. The initial symptom of RP is usually defective dark adaptation (i.e., nyctalopia or "night blindness").
Created: 3 May 2022, 8:11 a.m. | Last Modified: 3 May 2022, 8:11 a.m.
Panel Version: 0.13616

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 2 MIM#204100; Retinitis pigmentosa 20 MIM#613794; Retinitis pigmentosa 87 with choroidal involvement MIM#618697

Publications

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leber congenital amaurosis 2 MIM#204100
  • Retinitis pigmentosa 20 MIM#613794
  • Retinitis pigmentosa 87 with choroidal involvement MIM#618697
OMIM
180069
Clinvar variants
Variants in RPE65
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rpe65 has been classified as Green List (High Evidence).

3 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RPE65 were changed from to Leber congenital amaurosis 2 MIM#204100; Retinitis pigmentosa 20 MIM#613794; Retinitis pigmentosa 87 with choroidal involvement MIM#618697

3 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RPE65 were set to

3 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RPE65 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPE65 was added gene: RPE65 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RPE65 was set to Unknown