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Additional findings_Adult

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Included in ACMG V3.0 SF list, available gene therapy may be more effective earlier in disease.
Sources: Expert list
Created: 26 May 2021, 8:30 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
RPE-related retinopathy

Publications

Created: 26 May 2021, 8:30 a.m.

Panel version: 0.147

History Filter Activity

26 May 2021, 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).

26 May 2021, 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).

26 May 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPE65 was added gene: RPE65 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: RPE65 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RPE65 were set to 34012068 Phenotypes for gene: RPE65 were set to RPE-related retinopathy Review for gene: RPE65 was set to GREEN