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Prepair 1000+

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

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Severe inherited retinal disease presenting as a spectrum of disease with variable age of onset and progression of vision loss. Typical presentation between birth and age five years (GeneReviews)
Created: 21 Jan 2025, 2:04 a.m. | Last Modified: 21 Jan 2025, 2:04 a.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 20, MIM#613794; Leber congenital amaurosis 2, MIM#204100

Details

History Filter Activity

24 Jan 2025, 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).

24 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RPE65 were changed from Leber congenital amaurosis 2, 204100 (3) to Retinitis pigmentosa 20, MIM#613794; Leber congenital amaurosis 2, MIM#204100

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Leber congenital amaurosis 2, 204100 (3) for gene: RPE65

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPE65 was added gene: RPE65 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPE65 were set to Leber congenital amaurosis 2, 204100 (3)