TBL1XR1

transducin beta like 1 X-linked receptor 1
OMIM: 608628, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green TBL1XR1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 41, MIM# 616944
  • Pierpont syndrome, MIM# 602342

Green TBL1XR1 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
    • Victorian Clinical Genetics Services
    Phenotypes
    • Intellectual disability, autosomal dominant 41, MIM# 616944
    • Pierpont syndrome, MIM# 602342

    Green TBL1XR1 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
    • Mental retardation, autosomal dominant 41, MIM# 616944
    • Pierpont syndrome, MIM# 602342

    Red TBL1XR1 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    review Unknown
    Sources
    • Expert Review Red
    • NSW Health Pathology

    Amber TBL1XR1 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    Phenotypes
    • Mental retardation, autosomal dominant 41, MIM# 616944
    • Pierpont syndrome, MIM# 602342