ACER3:Ensemblv90

alkaline ceramidase 3
OMIM: 617036, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ACER3 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy

Green ACER3 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.601

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Leukodystrophy, progressive, early childhood-onset, MIM:617762

Green ACER3 in Leukodystrophy - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 0.334

Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Leukodystrophy, progressive, early childhood-onset, OMIM:617762

    Green ACER3 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    • Expert Review Green
    Phenotypes
    • Leukodystrophy, progressive, early childhood-onset, MIM:617762

    Green ACER3 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Leukodystrophy, progressive, early childhood-onset, OMIM:617762