ATG12

autophagy related 12
OMIM: 609608, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ATG12 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 2.6

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • ATG12-related neurodevelopmental disorder, MONDO:0700092

Green ATG12 in Mendeliome


Version 2.588

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ATG12-related neurodevelopmental disorder, MONDO:0700092

Green ATG12 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.42

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • ATG12-related neurodevelopmental disorder, MONDO:0700092

    Green ATG12 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.145

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • ATG12-related neurodevelopmental disorder, MONDO:0700092

    Red ATG12 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.157

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • ATG12-related neurodevelopmental disorder, MONDO:0700092