Fetal anomalies
Gene: RPE65

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

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted RPE65 gene rating from Green to Red.
Created: 30 Apr 2019, 8:24 a.m.

DDG2P rating in original PAGE list: Confirmed for LEBER CONGENITAL AMAUROSIS
Created: 11 Dec 2018, 9:05 a.m.

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.228

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
PAGE DD-Gene2Phenotype

Phenotypes

LEBER CONGENITAL AMAUROSIS

OMIM

180069

Clinvar variants

Variants in RPE65

Penetrance

None

Panels with this gene

History Filter Activity

30 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to RPE65. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: RPE65 was added gene: RPE65 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPE65 were set to LEBER CONGENITAL AMAUROSIS

Fetal anomalies Gene: RPE65