ATG9A:Ensemblv90

autophagy related 9A
OMIM: 612204, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red ATG9A in Mendeliome


Version 1.3802

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

Red ATG9A in Disorders of immune dysregulation


Level 2: Immunological disorders
Version 1.34

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 0.391

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

    Red ATG9A in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 2.0

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