Bleeding and platelet disorders
Gene: TNXB
The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that this gene should be green.Created: 8 Mar 2022, 10:48 a.m. | Last Modified: 8 Mar 2022, 10:48 a.m.
Panel Version: 1.35
Correspondence from Dr Neeti Ghali & Dr Fleur van Dijk, Consultant Clinical Geneticists, EDS National Diagnostic Service (15/07/2021) indicating that inclusion of TNXB as Green on this panel would be beneficial as they receive referrals from haematologists asking to consider this form of classic-like EDS, associated with significant bruising and haematoma formation.Created: 15 Jul 2021, 3:58 p.m. | Last Modified: 15 Jul 2021, 3:58 p.m.
Panel Version: 1.30
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, classic-like, 1, OMIM:606408
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 ReviewCreated: 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
Tag Q3_21_NHS_review was removed from gene: TNXB. Tag Q3_21_expert_review was removed from gene: TNXB.
Source Expert Review Green was added to TNXB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_21_NHS_review tag was added to gene: TNXB. Tag Q3_21_expert_review tag was added to gene: TNXB.
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