Vitamin metabolism disorders
Gene: RPE65
RPE65 (RPE65, retinoid isomerohydrolase)
EnsemblGeneIds (GRCh38): ENSG00000116745
EnsemblGeneIds (GRCh37): ENSG00000116745
OMIM: 180069, Gene2Phenotype
RPE65 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000116745
EnsemblGeneIds (GRCh37): ENSG00000116745
OMIM: 180069, Gene2Phenotype
RPE65 is in 12 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Disorders of vitamin A metabolism
- RPE65-related recessive retinopathy MONDO:0100368
- OMIM
- 180069
- Clinvar variants
- Variants in RPE65
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Additional findings_Adult
- Skeletal dysplasia
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Congenital nystagmus
- Prepair 500+
- Retinitis pigmentosa_Autosomal Dominant
- Congenital Stationary Night Blindness
- Vitamin metabolism disorders
- Retinitis pigmentosa_Autosomal Recessive/X-linked
History Filter Activity
20 May 2024, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RPE65 was added gene: RPE65 was added to Vitamin metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPE65 were set to 9326941 Phenotypes for gene: RPE65 were set to Disorders of vitamin A metabolism; RPE65-related recessive retinopathy MONDO:0100368