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Retinal disorders

Gene: ROM1

Red List (low evidence)

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

3 reviews

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
Other - please specifiy in evaluation comments
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa 7, digenic
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 7, digenic, 608133
OMIM
180721
Clinvar variants
Variants in ROM1
Penetrance
Complete
Panels with this gene

History Filter Activity

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