ATL2

atlastin GTPase 2
OMIM: 609368, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red ATL2 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 2.5

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
  • Other
Phenotypes
  • Cerebellar ataxia, MONDO:0000437, ATL2-related

Red ATL2 in Mendeliome


Version 2.516

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
  • Other
Phenotypes
  • Cerebellar ataxia, MONDO:0000437, ATL2-related

Red ATL2 in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 2.14

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
    • Other
    Phenotypes
    • Cerebellar ataxia, MONDO:0000437, ATL2-related