1. Genes and Genomic Entities
  2. ATG12

ATG12

autophagy related 12
OMIM: 609608, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber ATG12 in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.76
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • Hypoplasia of the corpus callosum, HP:0002079
    • Cerebellar hypoplasia, HP:0001321
    Tags
    • Q2_26_promote_green
    Amber ATG12 in Malformations of cortical development


    Level 2: Neurology
    Version 7.50
    Latest signed off version: v7.0 (30 Oct 2024)

    Component of the following Super Panels:

  • Cerebral malformation

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • Hypoplasia of the corpus callosum, HP:0002079
    • Cerebellar hypoplasia, HP:0001321
    Tags
    • Q2_26_promote_green
    Amber ATG12 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.368
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • Hypoplasia of the corpus callosum, HP:0002079
    • Cerebellar hypoplasia, HP:0001321
    Tags
    • Q2_26_promote_green