Retinal disordersGene: WHRN
added new-gene-name tag
Created: 9 Dec 2016, 5:12 p.m.
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: Promoted to green due to expert review.
Created: 1 Jun 2016, 12:13 p.m.
Published - and we have found in a patient with Usher.
Created: 1 Jun 2016, 10:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to WHRN.
DFNB31 was changed to WHRN
new-gene-name was removed from DFNB31. Panel: Posterior segment abnormalities
This gene has been classified as Green List (High Evidence).
Mode of inheritance for DFNB31 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
DFNB31 was created by ellenmcdonagh
DFNB31 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green