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
Phenotypes for gene: ANXA11 were changed from Amytrophic lateral sclerosis 23; 617839 to Amytrophic lateral sclerosis 23, OMIM:617839
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