Bleeding and platelet disordersGene: TNXB
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
Ehlers-Danlos syndrome due to tenascin X deficiency, 606408; significant bruising/haematomas
Publications for gene: TNXB were set to
Gene: tnxb has been classified as Amber List (Moderate Evidence).
Gene: tnxb has been removed from the panel.
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