Genes in panel

Neurodegenerative disorders - adult onset

Gene: ANXA11

Green List (high evidence)

ANXA11 (annexin A11)
EnsemblGeneIds (GRCh38): ENSG00000122359
EnsemblGeneIds (GRCh37): ENSG00000122359
OMIM: 602572, Gene2Phenotype
ANXA11 is in 1 panel

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 Green
Created: 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)

Green List (high evidence)

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
  • Amytrophic lateral sclerosis 23
  • 617839
OMIM
602572
Clinvar variants
Variants in ANXA11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jul 2019, Gel status: 3

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

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ANXA11.

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ANXA11.

23 Jul 2019, Gel status: 3

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