Bleeding and platelet disorders

Gene: TNXB

Amber List (moderate evidence)

TNXB (tenascin XB)
EnsemblGeneIds (GRCh38): ENSG00000168477
EnsemblGeneIds (GRCh37): ENSG00000168477
OMIM: 600985, Gene2Phenotype
TNXB is in 11 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Added to panel from suggestion from Neeti Ghali in view of including EDS genes on the R60 panel. TNXB is another (AR) EDS type presenting with significant bruising/haematomas, but again, other features are usually present. To be discussed further with Haematology Test Group as to the rating and in view of the other EDS genes on this panel (COL1A1, COL3A1, COL5A1, COL5A2, CHST14)
Sources: Expert Review
Created: 22 Aug 2019, 10:59 a.m. | Last Modified: 22 Aug 2019, 11:32 a.m.
Panel Version: 0.77

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome due to tenascin X deficiency, 606408; significant bruising/haematomas

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Ehlers-Danlos syndrome due to tenascin X deficiency, 606408
  • significant bruising/haematomas
OMIM
600985
Clinvar variants
Variants in TNXB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Aug 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: TNXB were set to

22 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: tnxb has been classified as Amber List (Moderate Evidence).

22 Aug 2019, Gel status: 0

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: tnxb has been removed from the panel.

22 Aug 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

gene: TNXB was added gene: TNXB was added to Bleeding and platelet disorders. Sources: Expert Review Mode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNXB were set to Ehlers-Danlos syndrome due to tenascin X deficiency, 606408; significant bruising/haematomas Review for gene: TNXB was set to AMBER