SETD5

SET domain containing 5
OMIM: 615743, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green SETD5 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.198

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual disability, autosomal dominant 23 (MIM # 615761)

Green SETD5 in Congenital diaphragmatic hernia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.14

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 23 MIM#615761

Green SETD5 in Hypertrichosis syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.46

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual disability, autosomal dominant 23 (MIM # 615761)

Green SETD5 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual disability, autosomal dominant 23 (MIM # 615761)

Green SETD5 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
    • Intellectual disability, autosomal dominant 23 (MIM # 615761)

    Green SETD5 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 disability, autosomal dominant 23 (MIM # 615761)

    Amber SETD5 in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.39

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Moya Moya
    • Mental retardation, autosomal dominant 23, MIM# 615761

    Green SETD5 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Intellectual disability, autosomal dominant 23 (MIM # 615761)