Neurodegenerative disorders - adult onsetGene: ANXA11
As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Three families published by Smith et al 2018 (28469040) with ALS phenotype. Further individuals with variants reported.
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Amytrophic lateral sclerosis 23, 617839
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene ANXA11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Amytrophic lateral sclerosis 23; 617839 for gene: ANXA11 Publications for gene ANXA11 were changed from to 28469040; 30337194; 29845112
Source NHS GMS was added to ANXA11.
Source Yorkshire and North East GLH was added to ANXA11.
gene: ANXA11 was added gene: ANXA11 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ANXA11 was set to