TNXB

tenascin XB
OMIM: 600985, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green TNXB in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.85

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ehlers-Danlos syndrome, classic-like, 1 MIM# 606408

Green TNXB in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.43

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ehlers-Danlos syndrome, classic-like, 1, MIM# 606408

Red TNXB in Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic


Level 2: Renal and urinary tract disorders
Version 0.117

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Vesicoureteral reflux 8, MIM# 615963

    Green TNXB in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ehlers-Danlos syndrome, classic-like, 1 MIM# 606408

    Red TNXB in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    review Not set
    Sources
    • Expert Review Green
    • Expert
    • Victorian Clinical Genetics Services

    Green TNXB in Ehlers Danlos syndromes


    Level 2: Cardiovascular disorders
    Version 1.3

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • International EDS Consortium
    • Expert Review Green
    Phenotypes
    • Classical-like EDS
    • Ehlers-Danlos syndrome due to tenascin X deficiency, 606408

    Red TNXB in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Ehlers-Danlos syndrome due to tenascin X deficiency

    Red TNXB in Fetal anomalies


    Version 1.255

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Vesicoureteral reflux 8 615963
    • Ehlers-Danlos syndrome due to tenascin X deficiency 606408

    Red TNXB in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Ehlers-Danlos syndrome due to tenascin X deficiency

    Green TNXB in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Ehlers-Danlos syndrome, classic-like, 1, MIM# 606408