SETD1B

SET domain containing 1B
OMIM: 611055, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SETD1B in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.198

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SETD1B in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy with myoclonic absences
  • intellectual disability
  • Intellectual developmental disorder with seizures and language delay (IDDSELD), MIM#619000

Green SETD1B in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Epilepsy with myoclonic absences
    • intellectual disability
    • Intellectual developmental disorder with seizures and language delay (IDDSELD), MIM#619000

    Green SETD1B in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Intellectual developmental disorder with seizures and language delay (IDDSELD), MIM#619000

    Red SETD1B in Speech apraxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert Review
    • Expert list
    Phenotypes
    • Intellectual developmental disorder with seizures and language delay, MIM# 619000