Structural eye disease
Gene: ROM1

ROM1 (retinal outer segment membrane protein 1)
EnsemblGeneIds (GRCh38): ENSG00000149489
EnsemblGeneIds (GRCh37): ENSG00000149489
OMIM: 180721, Gene2Phenotype
ROM1 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 7, digenic; 608133

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 7, digenic, 608133

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 7, digenic, 608133
Eye Disorders

OMIM

180721

Clinvar variants

Variants in ROM1

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 ROM1. Mode of inheritance for gene ROM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 7, digenic, 608133 for gene: ROM1

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: ROM1 was added gene: ROM1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ROM1 was set to Phenotypes for gene: ROM1 were set to Eye Disorders

Structural eye disease Gene: ROM1