Motor Neurone Disease
Gene: DAOEnsemblGeneIds (GRCh38): ENSG00000110887
EnsemblGeneIds (GRCh37): ENSG00000110887
OMIM: 124050, Gene2Phenotype
DAO is in 1 panel
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Refuted gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 21/04/2022Created: 21 Jun 2023, 10:27 p.m. | Last Modified: 21 Jun 2023, 10:27 p.m.
Panel Version: 0.176
Many mouse models, but reported variant in a case is R199W, which has gnomAD AF higher than expected for a dominant ALS gene. No compelling evidence in human cases.
Sources: Expert listCreated: 31 Mar 2020, 7:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyotrophic Lateral Sclerosis
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Amyotrophic Lateral Sclerosis
- OMIM
- 124050
- Clinvar variants
- Variants in DAO
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dao has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dao has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dao has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: DAO was added gene: DAO was added to Motor Neuron Disease. Sources: Expert list Mode of inheritance for gene: DAO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DAO were set to 29274788; 29895397; 20368421; 29194436 Phenotypes for gene: DAO were set to Amyotrophic Lateral Sclerosis Review for gene: DAO was set to RED