Retinal disordersGene: INVS
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
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.
This is primarily a gene causing nephthroniphthisis - there is an overlap with Senior Loken syndrome however no convincing evidence that this can cause non-syndromic RP. In my opinion there is insufficient evidence to have this on the panel
Created: 1 Jun 2016, 10:20 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to INVS.
This gene has been classified as Red List (Low Evidence).
Phenotypes for INVS were set to Eye Disorders; Nephronophthisis 2, infantile
Mode of inheritance for INVS was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
INVS was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
INVS was created by ellenmcdonagh