1. Genes and Genomic Entities
  2. SETD1B

SETD1B

SET domain containing 1B
OMIM: 611055, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red SETD1B in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Green SETD1B in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • SETD1B associated intellectual disability, epilepsy and autism
    Green SETD1B in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • 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
    Green SETD1B in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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 1.184

    		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