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Incidentalome

Gene: ANXA11

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

10 individuals from 7 unrelated families reported with ALS phenotype, PMID 28469040.

PMID 34048612 reports 11 individuals from three unrelated Brazilian families reported, but all had same variant ?founder. Predominantly presenting with myopathy and leukodystrophy, although some developed ALS.
Created: 22 Feb 2022, 5:13 a.m. | Last Modified: 22 Feb 2022, 5:13 a.m.
Panel Version: 0.85

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Inclusion body myopathy and brain white matter abnormalities, MIM# 619733; Amyotrophic lateral sclerosis 23, MIM# 617839

Publications

Created: 22 Feb 2022, 5:13 a.m.
Last Modified: 22 Feb 2022, 5:13 a.m.
Panel version: 0.85

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

4 different missense variants in 10 patients from 7 unrelated families with amyotrophic lateral sclerosis and functional assays supporting association.
Sources: Expert list
Created: 28 Mar 2020, 4:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amytrophic lateral sclerosis 23 MIM#617839

Publications

Created: 28 Mar 2020, 4:04 a.m.

Panel version: 0.13

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Inclusion body myopathy and brain white matter abnormalities, MIM# 619733
  • Amyotrophic lateral sclerosis 23, MIM# 617839
Tags
adult onset neurodegenerative
OMIM
602572
Clinvar variants
Variants in ANXA11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Aug 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag adult onset neurodegenerative tag was added to gene: ANXA11.

22 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANXA11 were changed from Amytrophic lateral sclerosis 23 MIM#617839 to Inclusion body myopathy and brain white matter abnormalities, MIM# 619733; Amyotrophic lateral sclerosis 23, MIM# 617839

22 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ANXA11 were set to 28469040; 29845112; 30109997

28 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

28 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ANXA11 was added gene: ANXA11 was added to Incidentalome. Sources: Expert list Mode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANXA11 were set to 28469040; 29845112; 30109997 Phenotypes for gene: ANXA11 were set to Amytrophic lateral sclerosis 23 MIM#617839 Review for gene: ANXA11 was set to GREEN