Structural eye disease
Gene: RBP3

RBP3 (retinol binding protein 3)
EnsemblGeneIds (GRCh38): ENSG00000265203
EnsemblGeneIds (GRCh37): ENSG00000107618
OMIM: 180290, Gene2Phenotype
RBP3 is in 3 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
?Retinitis pigmentosa 66; 615233

Mode of pathogenicity
Other - please provide details in the comments

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
?Retinitis pigmentosa 66, 615233

Mode of pathogenicity
Other - please provide details in the comments

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

?Retinitis pigmentosa 66, 615233
Eye Disorders

OMIM

180290

Clinvar variants

Variants in RBP3

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 RBP3. Mode of inheritance for gene RBP3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Retinitis pigmentosa 66, 615233 for gene: RBP3

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: RBP3 was added gene: RBP3 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: RBP3 was set to Phenotypes for gene: RBP3 were set to Eye Disorders

Structural eye disease Gene: RBP3