PanelApp (staging)
  1. Genes and Genomic Entities
  2. ACER3

ACER3

alkaline ceramidase 3
OMIM: 617036, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ACER3 in Mendeliome


Version 1.2302

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 0.572

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 0.318

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