Structural eye disease
Gene: RHO

RHO (rhodopsin)
EnsemblGeneIds (GRCh38): ENSG00000163914
EnsemblGeneIds (GRCh37): ENSG00000163914
OMIM: 180380, Gene2Phenotype
RHO 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
Retinitis pigmentosa 4, autosomal dominant or recessive; Night blindness, congenital stationary, autosomal dominant 1; ; 613731; 610445; 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
Retinitis pigmentosa 4, autosomal dominant or recessive, 613731; Night blindness, congenital stationary, autosomal dominant 1, 610445; Fundus albipunctatus, 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

Retinitis pigmentosa 4, autosomal dominant or recessive, 613731
Fundus albipunctatus, 136880
Night blindness, congenital stationary, autosomal dominant 1, 610445
Eye Disorders

OMIM

180380

Clinvar variants

Variants in RHO

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 RHO. Mode of inheritance for gene RHO was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 4, autosomal dominant or recessive, 613731; Fundus albipunctatus, 136880; Night blindness, congenital stationary, autosomal dominant 1, 610445 for gene: RHO

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

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

Structural eye disease Gene: RHO