Adult onset neurodegenerative disorder
Gene: ANXA11EnsemblGeneIds (GRCh38): ENSG00000122359
EnsemblGeneIds (GRCh37): ENSG00000122359
OMIM: 602572, Gene2Phenotype
ANXA11 is in 4 panels
4 reviews
Eleanor Williams (Genomics England Curator)
The 'founder-effect' tag has been added as the same variant has been identified in multiple families from the same populations. For more details see the review on the Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies panel https://panelapp.genomicsengland.co.uk/panels/185/gene/ANXA11/Created: 30 Sep 2025, 9:52 p.m. | Last Modified: 30 Sep 2025, 9:52 p.m.
Panel Version: 8.3
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: OMIM phenotype accessed on 30 September 2025.Created: 30 Sep 2025, 5:05 p.m. | Last Modified: 30 Sep 2025, 5:05 p.m.
Panel Version: 8.3
Louise Daugherty (Genomics England Curator)
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 GreenCreated: 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
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
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
Phenotypes
Amytrophic lateral sclerosis 23, 617839
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Yorkshire and North East GLH
- Expert Review Green
- Phenotypes
-
- Amyotrophic lateral sclerosis 23, OMIM:617839
- Tags
- OMIM
- 602572
- Clinvar variants
- Variants in ANXA11
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Eleanor Williams (Genomics England Curator)Tag founder-effect tag was added to gene: ANXA11.
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: ANXA11 were changed from Amytrophic lateral sclerosis 23, OMIM:617839 to Amyotrophic lateral sclerosis 23, OMIM:617839
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ANXA11 were changed from Amytrophic lateral sclerosis 23; 617839 to Amytrophic lateral sclerosis 23, OMIM:617839
Set mode of inheritance, Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)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
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ANXA11.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to ANXA11.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)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