Retinal disordersGene: FSCN2
not an rp gene
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
This disease association is largely based upon a single finding: PMID: 11527955. Other reported instances are less convincing.
Created: 1 Jun 2016, 10:13 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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.
One reported variant on OMIM, however PMID: 17251446 reports that it is not assocoated with retinal degeneration in Chinese population.
Created: 22 Mar 2016, 12:16 p.m.
Source NHS GMS was added to FSCN2.
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 FSCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
FSCN2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
FSCN2 was created by ellenmcdonagh