SETD1B

SET domain containing 1B
OMIM: 611055, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red SETD1B in Autism


Version 0.22

review Not set
Sources
  • Expert Review Red
  • SFARI

Red SETD1B 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 Red
    Phenotypes
    • SETD1B associated intellectual disability, epilepsy and autism

    Amber SETD1B in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.448
    Latest signed off version: v2.2 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Intellectual developmental disorder with seizures and language delay, OMIM:619000
    • Intellectual developmental disorder with seizures and language delay, MONDO:0033559
    Tags
    • for-review

    Green SETD1B 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
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Literature
    Phenotypes
    • Intellectual developmental disorder with seizures and language delay, OMIM:619000
    • Intellectual developmental disorder with seizures and language delay, MONDO:0033559

    Green SETD1B 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
    • Intellectual developmental disorder with seizures and language delay, OMIM:619000
    • Intellectual developmental disorder with seizures and language delay, MONDO:0033559