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 Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual disability with autism spectrum disorder
  • Pierpont syndrome
Tags
  • missense
Green TBL1XR1 in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Pierpont syndrome
    • Intellectual disability with autism spectrum disorder
    Amber TBL1XR1 in Clefting


    Level 2: Musculoskeletal
    Version 7.9
    Latest signed off version: v7.8 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Pierpont syndrome, OMIM:602342
    Green TBL1XR1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.65
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert Review
    Phenotypes
    • Mental retardation, autosomal dominant 41, 616944
    • Pierpont syndrome, 602342
    Green TBL1XR1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.7
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • AUTISM