Retinal disordersGene: NMNAT1
PMID: 28369829 - novel missense variant reported in this gene in 2 siblings from an endogamous Arab family with early-onset cone-rod dystrophy and central nummular macular atrophic lesion.
Created: 14 Aug 2017, 3:02 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, 8:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Leber congenital amaurosis
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: NMNAT1 were set to
Source NHS GMS was added to NMNAT1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
NMNAT1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
NMNAT1 was created by ellenmcdonagh