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Newborns main panel

Gene: RPE65

Green List (high evidence)
RPE65 (RPE65, retinoid isomerohydrolase)
EnsemblGeneIds (GRCh38): ENSG00000116745
EnsemblGeneIds (GRCh37): ENSG00000116745
OMIM: 180069, Gene2Phenotype
RPE65 is in 11 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: VCEP - a ClinGen Variant Review Expert Panel (VCEP) has produced specifications to the ACMP/AMP variant interpretation guidelines for this gene.

Additional Information: Link to Leber Congenital Amaurosis/early onset Retinal Dystrophy Variant Curation Expert Panel (VCEP) - https://www.clinicalgenome.org/affiliation/50082/
Created: 26 Sep 2024, 4:09 p.m. | Last Modified: 26 Sep 2024, 4:09 p.m.
Panel Version: 0.469
Created: 26 Sep 2024, 4:09 p.m.
Last Modified: 26 Sep 2024, 4:09 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
RPE65 curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • RPE65 associated Leber congenital amaurosis, early-onset severe retinal dystrophy
Tags
special_consideration
OMIM
180069
Clinvar variants
Variants in RPE65
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: RPE65.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes RPE65 associated Leber congenital amaurosis, early-onset severe retinal dystrophy for gene: RPE65

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes RPE65 associated Leber congenital amaurosis, early-onset severe retinal dystrophy for gene: RPE65

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to RPE65. Added phenotypes RPE65 associated Leber congenital amaurosis, early-onset severe retinal dystrophy for gene: RPE65 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to RPE65. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes RPE65 associated Leber congenital amaurosis, early-onset severe retinal dystrophy for gene: RPE65

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: RPE65 was added gene: RPE65 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal