ACER3

alkaline ceramidase 3
OMIM: 617036, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber ACER3 in White matter disorders and cerebral calcification - narrow panel


Version 1.240
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leukodystrophy, progressive, early childhood-onset, OMIM:617762
    Tags
    • Q1_22_rating

    Amber ACER3 in Hereditary spastic paraplegia - childhood onset


    Version 2.144
    Latest signed off version: v2.18 (8 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leukodystrophy, progressive, early childhood-onset, OMIM:617762
    Tags
    • Q1_22_rating

    Amber ACER3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Leukodystrophy, progressive, early childhood-onset, OMIM:617762
    Tags
    • Q1_22_rating

    Amber ACER3 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.240
    Latest signed off version: v1.137 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Leukodystrophy, progressive, early childhood-onset, OMIM:617762
    Tags
    • Q1_22_rating