Early-onset Dementia

Gene: ANXA11

Green List (high evidence)

ANXA11 (annexin A11)
EnsemblGeneIds (GRCh38): ENSG00000122359
EnsemblGeneIds (GRCh37): ENSG00000122359
OMIM: 602572, Gene2Phenotype
ANXA11 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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: Literature
Created: 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

10 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: anxa11 has been classified as Green List (High Evidence).

10 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: anxa11 has been classified as Green List (High Evidence).

10 Feb 2025, Gel status: 1

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