Structural eye disease
Gene: RLBP1

RLBP1 (retinaldehyde binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000140522
EnsemblGeneIds (GRCh37): ENSG00000140522
OMIM: 180090, Gene2Phenotype
RLBP1 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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Bothnia retinal dystrophy; Newfoundland rod-cone dystrophy, Fundus albipunctatus; 607475; 607476; 136880

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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Bothnia retinal dystrophy; Newfoundland rod-cone dystrophy, Fundus albipunctatus; 607475; 607476; 136880

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

Panel version: 0.48

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

136880
Eye Disorders
Newfoundland rod-cone dystrophy, Fundus albipunctatus
Bothnia retinal dystrophy
607475
607476

OMIM

180090

Clinvar variants

Variants in RLBP1

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 RLBP1. Mode of inheritance for gene RLBP1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes 136880; Newfoundland rod-cone dystrophy, Fundus albipunctatus; Bothnia retinal dystrophy; 607475; 607476 for gene: RLBP1

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: RLBP1 was added gene: RLBP1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: RLBP1 was set to Phenotypes for gene: RLBP1 were set to Eye Disorders

Structural eye disease Gene: RLBP1