Retinitis pigmentosa_Autosomal Recessive/X-linked
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
1 review
Belinda Chong (Victorian Clinical Genetics Services)
OMIM:Early onset (3 to 7 years of age) night blindness and severe visual impairment by adulthood. Multiple RP individuals with homozygous or compound heterozygous variants.Created: 9 May 2022, 5:13 a.m. | Last Modified: 9 May 2022, 5:13 a.m.
Panel Version: 0.124
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 20 MIM#613794
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Retinitis pigmentosa 20
- Leber congenital amaurosis 2, 204100
- OMIM
- 180069
- Clinvar variants
- Variants in RPE65
- Penetrance
- None
- 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
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RPE65 was added gene: RPE65 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPE65 were set to Retinitis pigmentosa 20; Leber congenital amaurosis 2, 204100