Bleeding and platelet disorders
Gene: TNXBEnsemblGeneIds (GRCh38): ENSG00000168477
EnsemblGeneIds (GRCh37): ENSG00000168477
OMIM: 600985, Gene2Phenotype
TNXB is in 10 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
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
Louise Daugherty (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- 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
-
- Unexplained young onset end-stage renal disease - additional genes
- Thoracic aortic aneurysm or dissection (GMS)
- Unexplained kidney failure in young people
- Bleeding and platelet disorders
- Thoracic aortic aneurysm or dissection
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Skeletal dysplasia
- Osteogenesis imperfecta
- CAKUT
History Filter Activity
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_21_NHS_review was removed from gene: TNXB. Tag Q3_21_expert_review was removed from gene: TNXB.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to TNXB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_21_NHS_review tag was added to gene: TNXB. Tag Q3_21_expert_review tag was added to gene: TNXB.
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: TNXB were set to
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: tnxb has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: tnxb has been removed from the panel.
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