ASXL3

additional sex combs like 3, transcriptional regulator
OMIM: 615115, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ASXL3 in Autism


Version 0.22

review Not set
Sources
  • Expert Review Green
  • SFARI
Phenotypes
  • ASD, EPS, ID, DD/NDD
  • Bainbridge-Ropers syndrome

Amber ASXL3 in Fetal anomalies


Version 1.732
Latest signed off version: v1.92 (21 Aug 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BAINBRIDGE-ROPERS SYNDROME

Amber ASXL3 in DDG2P


Version 2.49
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • BAINBRIDGE-ROPERS SYNDROME 615485

    Green ASXL3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1371
    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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Bainbridge-Ropers syndrome, OMIM:615485

    Green ASXL3 in Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bainbridge-Ropers syndrome, 615485