Retinal disordersGene: ROM1
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
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
Retinitis pigmentosa 7, digenic
Variants in this GENE are reported as part of current diagnostic practice
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.
Source NHS GMS was added to ROM1.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Model of inheritance for gene ROM1 was set to Other - please specifiy in evaluation comments
ROM1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
ROM1 was created by ellenmcdonagh