ATG9A

autophagy related 9A
OMIM: 612204, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red ATG9A in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 3.28

Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Young-onset Parkinson disease, MONDO:0017279

    Red ATG9A in Mendeliome


    Version 2.336

    2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Autophagy-associated immune dysregulation and hyperplasia
    • Young-onset Parkinson disease, MONDO:0017279

    Red ATG9A in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 2.4

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Autophagy-associated immune dysregulation and hyperplasia

    Red ATG9A in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 1.3

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Primary ovarian insufficiency