ASXL1

additional sex combs like 1, transcriptional regulator
OMIM: 612990, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green ASXL1 in Limb disorders


Version 2.16
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bohring-Opitz syndrome, 605039

    Red ASXL1 in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.78

    review Not set
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Bohring-Opitz syndrome, 605039
    • Myelodysplastic syndrome, somatic, 614286
    • juvenile myelomonocytic leukaemia
    • aquired aplastic anaemia
    Tags
    • somatic

    Green ASXL1 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.15
    Signed off v.3.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Bohring-Opitz syndrome 605039

    Green ASXL1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.24
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Bohring-Opitz syndrome 605039

    Green ASXL1 in Fetal anomalies


    Version 1.108
    Signed off v.1.92 on 21 Aug 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BOHRING-OPITZ SYNDROME

    Green ASXL1 in Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.12
    Signed off v.2.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bohring-Opitz syndrome, 605039
    • Metopic synostosis frequently associated with Bohring-Opitz syndrome

    Green ASXL1 in DDG2P


    Version 2.11
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BOHRING-OPITZ SYNDROME 605039

    Green ASXL1 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.5
    Signed off v.2.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • BOHRING-OPITZ SYNDROME
    • BOPS

    Green ASXL1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.500
    Signed off v.3.2 on 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
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Bohring-Opitz syndrome, 605039Myelodysplastic syndrome, somatic, 614286
    • BOHRING-OPITZ SYNDROME

    Green ASXL1 in Severe Paediatric Disorders


    Version 1.12

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bohring-Opitz syndrome, 605039