Retinitis pigmentosa_Autosomal Dominant

Gene: ROM1

Green List (high evidence)

ROM1 (retinal outer segment membrane protein 1)
EnsemblGeneIds (GRCh38): ENSG00000149489
EnsemblGeneIds (GRCh37): ENSG00000149489
OMIM: 180721, Gene2Phenotype
ROM1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene are proposed to be modifiers of retinal disease caused by other genes; however families where only ROM variants are identified also reported. Supportive functional data including animal models.

PMID: 32716032 - Strayve et al 2020 - created mouse models to look at the effects of eliminating one allele of Rom1 (Rom1+/−) in three different Prph2 models which mimic human disease: C213Y Prph2 (Prph2C/+), K153Del Prph2 (Prph2K/+) and R172W (Prph2R172W). Reducing Rom1 when there was no Prph2 mutations (Rom1+/−) had no effect on retinal structure or function. But reducing Rom1 in the presence of Prph2 mutations were highly variable ranging from improved rod and cone function to worsened rod and cone function and exacerbated retinal degeneration.
Created: 6 Oct 2020, 9:51 p.m. | Last Modified: 6 Oct 2020, 9:51 p.m.
Panel Version: 0.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 7, digenic form, MIM# 608133

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 7, digenic, 608133
OMIM
180721
Clinvar variants
Variants in ROM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rom1 has been classified as Green List (High Evidence).

6 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ROM1 were set to

6 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ROM1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ROM1 was added gene: ROM1 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ROM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ROM1 were set to Retinitis pigmentosa 7, digenic, 608133