Structural eye disease
Gene: RD3

RD3 (retinal degeneration 3)
EnsemblGeneIds (GRCh38): ENSG00000198570
EnsemblGeneIds (GRCh37): ENSG00000198570
OMIM: 180040, Gene2Phenotype
RD3 is in 8 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 12; 610612

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 12, 610612

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Leber congenital amaurosis 12, 610612
Eye Disorders

OMIM

180040

Clinvar variants

Variants in RD3

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to RD3. Mode of inheritance for gene RD3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leber congenital amaurosis 12, 610612 for gene: RD3

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: RD3 was added gene: RD3 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: RD3 was set to Phenotypes for gene: RD3 were set to Eye Disorders

Structural eye disease Gene: RD3