ANXA11

annexin A11
OMIM: 602572, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber ANXA11 in Adult onset leukodystrophy


Level 2: Neurology
Version 6.8
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Inclusion body myopathy and brain white matter abnormalities, OMIM:619733
  • inclusion body myopathy and brain white matter abnormalities, MONDO:0850514
Tags
  • founder-effect
Amber ANXA11 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies


Level 2: Neurology
Version 5.29
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Inclusion body myopathy and brain white matter abnormalities, OMIM:619733
    • inclusion body myopathy and brain white matter abnormalities, MONDO:0850514
    Tags
    • founder-effect
    • Q3_25_promote_green
    Green ANXA11 in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.11
    Latest signed off version: v8.0 (30 Apr 2025)

    review 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
    • founder-effect
    No list ANXA11 in Amyotrophic lateral sclerosis/motor neuron disease

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.74

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • Amyotrophic lateral sclerosis 23