SETD1A

SET domain containing 1A
OMIM: 611052, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SETD1A in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy, early-onset, with or without developmental delay, MIM# 618832
  • Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056

Green SETD1A 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
    • Literature
    Phenotypes
    • Epilepsy, early-onset, with or without developmental delay, MIM# 618832
    • Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056

    Green SETD1A 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
    • Literature
    Phenotypes
    • Epilepsy, early-onset, with or without developmental delay, MIM# 618832
    • Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056

    Red SETD1A in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Epilepsy, early-onset, with or without developmental delay, MIM# 618832
    • Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056

    Amber SETD1A in Speech apraxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert Review
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056