Neurodegenerative disorders - adult onsetGene: DAO
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
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
Mutation identified in family expressed in mouse model. Other variants identified in sporadic cases.
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
Amyotrophic lateral sclerosis
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: DAO were changed from Amyotrophic lateral sclerosis to Amyotrophic lateral sclerosis, MONDO:0004976
Source Expert Review Amber was added to DAO. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Mode of inheritance for gene DAO was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Amyotrophic lateral sclerosis for gene: DAO Publications for gene DAO were changed from to 29194436; 20368421
Source NHS GMS was added to DAO.
Source Yorkshire and North East GLH was added to DAO.
gene: DAO was added gene: DAO was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: DAO was set to