TNXB:Ensemblv115

tenascin XB
OMIM: 600985, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green TNXB in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 2.0

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

Green TNXB in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
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 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
Phenotypes
  • Vesicoureteral reflux 8, MIM# 615963

Green TNXB in Ehlers Danlos syndromes


Level 2: Cardiovascular disorders
Version 2.0

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

Green TNXB in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

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