| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Bleeding and platelet disorders v1.35 | TNXB |
Arina Puzriakova Tag Q3_21_NHS_review was removed from gene: TNXB. Tag Q3_21_expert_review was removed from gene: TNXB. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v1.35 | TNXB | Arina Puzriakova commented on 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v1.34 | TNXB |
Arina Puzriakova Source Expert Review Green was added to TNXB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v1.30 | TNXB | Arina Puzriakova reviewed gene: TNXB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic-like, 1, OMIM:606408; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v1.30 | TNXB |
Arina Puzriakova Tag Q3_21_NHS_review tag was added to gene: TNXB. Tag Q3_21_expert_review tag was added to gene: TNXB. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.77 | TNXB |
Louise Daugherty changed review comment from: 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 as to the rating and in view of the other EDS genes on this panel (COL1A1, COL3A1, COL5A1, COL5A2, CHST14) Sources: Expert Review; to: 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.77 | TNXB | Louise Daugherty Publications for gene: TNXB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.76 | TNXB | Louise Daugherty Classified gene: TNXB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.76 | TNXB | Louise Daugherty Gene: tnxb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.75 | TNXB | Louise Daugherty Classified gene: TNXB as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.75 | TNXB | Louise Daugherty Gene: tnxb has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.74 | TNXB |
Louise Daugherty 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 Added comment: 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 as to the rating and in view of the other EDS genes on this panel (COL1A1, COL3A1, COL5A1, COL5A2, CHST14) Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||