ASXL3

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

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green ASXL3 in Angelman Rett like syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.11

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bainbridge-Ropers syndrome (OMIM # 615485)

Green ASXL3 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.205

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bainbridge-Ropers syndrome (OMIM # 615485)

Green ASXL3 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Bainbridge-Ropers syndrome, MIM# 615485

Green ASXL3 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bainbridge-Ropers syndrome (OMIM # 615485)

Green ASXL3 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.119

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • ClinGen
    • NHS GMS
    Phenotypes
    • Bainbridge-Ropers syndrome, OMIM:615115

    Green ASXL3 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bainbridge-Ropers syndrome (OMIM # 615485)

    Green ASXL3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Bainbridge-Ropers syndrome (OMIM # 615485)

    Amber ASXL3 in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    Phenotypes
    • Bainbridge-Ropers syndrome (OMIM # 615485)