TRIP13

thyroid hormone receptor interactor 13
OMIM: 604507, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green TRIP13 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mosaic variegated aneuploidy syndrome 3, MIM# 617598
  • Oocyte maturation defect 9, MIM# 619011
Tags
  • founder

Green TRIP13 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.301

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mosaic variegated aneuploidy syndrome 3, MIM# 617598
Tags
  • founder

Green TRIP13 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.131

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mosaic variegated aneuploidy syndrome 3, MIM# 617598
Tags
  • founder

Amber TRIP13 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.119

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Mosaic variegated aneuploidy syndrome 3, MIM# 617598
    Tags
    • founder

    Amber TRIP13 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genetic Health Queensland
    Phenotypes
    • Mosaic variegated aneuploidy syndrome 3, MIM# 617598
    Tags
    • founder

    Green TRIP13 in Growth failure


    Version 1.76

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Mosaic variegated aneuploidy syndrome 3, MIM# 617598
    Tags
    • founder

    Amber TRIP13 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Mosaic variegated aneuploidy syndrome 3, MIM# 617598

    Green TRIP13 in Wilms Tumour


    Level 2: Cancer Predisposition
    Version 1.0

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review
    • Expert list
    Phenotypes
    • Wilms tumor, MONDO:0006058
    • Mosaic variegated aneuploidy syndrome 3, MONDO:0054736
    • Mosaic variegated aneuploidy syndrome 3, MIM#617598