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Retinal disorders

Gene: ROM1

Amber List (moderate evidence)

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

6 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is sufficient evidence to support a gene-disease association and it is recommended that this gene should be given Green status.
Created: 22 Jan 2021, 2:03 p.m. | Last Modified: 22 Jan 2021, 2:03 p.m.
Panel Version: 2.130

Zornitza Stark (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.
Created: 7 Oct 2020, 8:26 p.m. | Last Modified: 7 Oct 2020, 8:26 p.m.
Panel Version: 2.17

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 7, digenic form, MIM# 608133

Publications

Variants in this GENE are reported as part of current diagnostic practice

Eleanor Williams (Genomics England Curator)

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, 2:08 p.m. | Last Modified: 6 Oct 2020, 2:16 p.m.
Panel Version: 2.16

Phenotypes
retinal degeneration

Publications

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Red List (low evidence)

has the digenic RP story ever been confirmed?
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159

Stephanie Barton (Manchester Centre for Genomic Medicine)

I don't know

We have not identified disease-causing mutations in this gene to date. Insufficient evidence to add to green list.
Created: 1 Jun 2016, 11:25 a.m.

Mode of inheritance
Unknown

Phenotypes
Retinitis pigmentosa 7, digenic

Publications

  • Bascom et al (1995) Mutation analysis of the ROM1 gene in retinitis pigmentosa.Hum Mol Genet. 1995 Oct
  • 4(10):1895-902: Thought to require digenic inheritance with PRHP2 mutation (or mutations in other as yet unidentified genes) to cause RP

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:06 a.m.
Comment on list classification: Demoted to amber due to issue of digenic inheritance - reports with PRPH2 and RDS gene variants.
Created: 22 Mar 2016, 2:25 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 7, digenic, OMIM:608133
Tags
for-review
OMIM
180721
Clinvar variants
Variants in ROM1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: rom1 has been classified as Amber List (Moderate Evidence).

22 Jan 2021, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: ROM1.

22 Jan 2021, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: ROM1 was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

8 Jan 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ROM1 were changed from Retinitis pigmentosa 7, digenic; Eye Disorders; Retinitis Pigmentosa, Dominant; Retinitis pigmentosa; Retinitis pigmentosa 7, digenic, 608133 to Retinitis pigmentosa 7, digenic, OMIM:608133

8 Jan 2021, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ROM1 were set to 8595413; 32716032

6 Oct 2020, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: ROM1 were set to

3 Apr 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ROM1.

1 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 Mar 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

9 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ROM1 was set to Other - please specifiy in evaluation comments

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

ROM1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ROM1 was created by ellenmcdonagh