Congenital nystagmus
Gene: RD3

RD3 (retinal degeneration 3)
EnsemblGeneIds (GRCh38): ENSG00000198570
EnsemblGeneIds (GRCh37): ENSG00000198570
OMIM: 180040, Gene2Phenotype
RD3 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, more than 10 families reported.
Created: 27 Oct 2021, 1:58 a.m. | Last Modified: 27 Oct 2021, 1:58 a.m.

Panel Version: 0.9490

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 12, MIM#610612

Publications

Created: 27 Oct 2021, 1:58 a.m.
Last Modified: 27 Oct 2021, 1:58 a.m.
Panel version: Imported from Mendeliome panel version 0.9490

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Multiple individuals, nystagmus a feature.

PubMed: 23308101 Perrault et al. (2013) studied 9 patients from 7 unrelated families with mutations in the RD3 gene (see MOLECULAR GENETICS). Patients consistently presented with congenital nystagmus, low vision, sluggish pupillary reflexes, absence of ocular pursuit since birth, early-onset and long-lasting digitoocular sign of Franceschetti, photoaversion, and mild to moderate hyperopia.
Created: 26 Oct 2021, 10:10 p.m. | Last Modified: 26 Oct 2021, 10:10 p.m.

Panel Version: 0.96

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 12 MIM#610612

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 26 Oct 2021, 10:10 p.m.
Last Modified: 26 Oct 2021, 10:10 p.m.
Panel version: 0.96

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Expert list
Victorian Clinical Genetics Services

Phenotypes

Leber congenital amaurosis 12 MIM#610612

OMIM

180040

Clinvar variants

Variants in RD3

Penetrance

None

Publications

Panels with this gene