Early-onset Dementia
Gene: ANXA11EnsemblGeneIds (GRCh38): ENSG00000122359
EnsemblGeneIds (GRCh37): ENSG00000122359
OMIM: 602572, Gene2Phenotype
ANXA11 is in 5 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
FTD can be a feature of the condition. ANXA11 is classified as a multisystem proteinopathy gene. Gain-of-function is the mechanism of disease.
Sources: LiteratureCreated: 10 Feb 2025, 12:23 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
amyotrophic lateral sclerosis type 23 MONDO:0027694
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- amyotrophic lateral sclerosis type 23 MONDO:0027694
- OMIM
- 602572
- Clinvar variants
- Variants in ANXA11
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: anxa11 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: anxa11 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)gene: ANXA11 was added gene: ANXA11 was added to Early-onset Dementia. Sources: Literature Mode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANXA11 were set to 36458208; 39755715; 38896345; 38896262 Phenotypes for gene: ANXA11 were set to amyotrophic lateral sclerosis type 23 MONDO:0027694 Mode of pathogenicity for gene: ANXA11 was set to Other Review for gene: ANXA11 was set to GREEN gene: ANXA11 was marked as current diagnostic