Congenital nystagmus
Gene: RPE65EnsemblGeneIds (GRCh38): ENSG00000116745
EnsemblGeneIds (GRCh37): ENSG00000116745
OMIM: 180069, Gene2Phenotype
RPE65 is in 12 panels
1 review
Daniel Flanagan (Victorian Clinical Genetics Services)
Biallelic RPE65 variant associated with Leber congenital amaurosis / retinal diseases and early onset nystagmus. Nystagmus onset appears to range from birth to around 6 years of age.
PMID: 12960219. Homozygous or compound heterozygous Dutch founder mutation, p.(Tyr368His) identified in 14 patients with congenital retinal dystrophy. 12/14 individuals had early onset nystagmus or developed nystagmus within the first six years of life, exact age of onset not provided.
PMID: 14962443. Bi-allelic RPE65 variants identified in a Leber congenital amaurosis with nystagmus first noted at the age of 5 years.
GeneReviews: RPE65-related Leber congenital amaurosis usually appearing in the first year of life and is often accompanied by nystagmus.Created: 27 Oct 2021, 12:50 a.m. | Last Modified: 27 Oct 2021, 12:50 a.m.
Panel Version: 0.96
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leber congenital amaurosis 2; retinal diseases
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Royal Melbourne Hospital
- Phenotypes
-
- Leber congenital amaurosis 2, 204100
- OMIM
- 180069
- Clinvar variants
- Variants in RPE65
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Skeletal dysplasia
- Additional findings_Adult
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rpe65 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RPE65 were changed from Leber Congenital Amaurosis; Leber congenital amaurosis 2, 204100; Leber congenital amaurosis 2; Retinitis pigmentosa 20 to Leber congenital amaurosis 2, 204100
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RPE65 were set to
Added New Source
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Source Expert list was added to RPE65.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RPE65 was added gene: RPE65 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPE65 were set to Leber Congenital Amaurosis; Leber congenital amaurosis 2, 204100; Leber congenital amaurosis 2; Retinitis pigmentosa 20