AP2M1

adaptor related protein complex 2 mu 1 subunit
OMIM: 601024, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber AP2M1 in DDG2P


Version 2.78
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • Developmental and Epileptic Encephalopathy

    Green AP2M1 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.572
    Latest signed off version: v2.2 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review
    • Expert Review Green
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Intellectual developmental disorder 60 with seizures, 618587
    • Seizures
    • Ataxia
    • Generalized hypotonia
    • Intellectual disability
    • Global developmental delay
    • Autistic behavior
    Tags
    • missense

    Green AP2M1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1677
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review
    • Expert Review Green
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Intellectual developmental disorder 60 with seizures, 618587
    • Seizures
    • Ataxia
    • Generalized hypotonia
    • Intellectual disability
    • Global developmental delay
    • Autistic behavior
    Tags
    • missense

    Green AP2M1 in Severe Paediatric Disorders


    Version 1.127

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Intellectual developmental disorder 60 with seizures, 618587