TNXB

tenascin XB
OMIM: 600985, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Red TNXB in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.124

review Not set
Sources
  • Expert list
Red TNXB in Thoracic aortic aneurysm or dissection (GMS)


Level 2: Cardiology
Version 4.5
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
  • South West GLH
Red TNXB in Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.129

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert list
Red TNXB in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.38
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert
    Green TNXB in Bleeding and platelet disorders


    Level 2: Haematology
    Version 4.6
    Latest signed off version: v4.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Ehlers-Danlos syndrome due to tenascin X deficiency, 606408
    • significant bruising/haematomas
    Red TNXB in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.182

    review Not set
    Sources
    • Expert list
    Green TNXB in Ehlers Danlos syndrome with a likely monogenic cause


    Level 2: Musculoskeletal
    Version 4.6
    Latest signed off version: v4.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    Phenotypes
    • Ehlers-Danlos syndrome, classic-like, 1, OMIM:606408
    Red TNXB in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.181
    Latest signed off version: v6.0 (30 Apr 2025)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE Additional Gene List
    Phenotypes
    • Ehlers-Danlos syndrome due to tenascin X deficiency 606408
    • Vesicoureteral reflux 8 615963
    Red TNXB in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

    review Not set
    Sources
    • Expert
    Red TNXB in Unexplained young onset end-stage renal disease - additional genes


    Level 2: Renal
    Version 1.6
    Latest signed off version: v1.1 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review Unknown
    Sources
    • Expert Review Red