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| Atypical haemolytic uraemic syndrome v2.10 | ADAMTS13 | Eleanor Williams Tag to_be_confirmed_NHSE tag was added to gene: ADAMTS13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.8 | ADAMTS13 | Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, MIM# 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.7 | ADAMTS13 | Eleanor Williams Tag for-review tag was added to gene: ADAMTS13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.7 | ADAMTS13 | Eleanor Williams Publications for gene: ADAMTS13 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.6 | ADAMTS13 | Eleanor Williams Classified gene: ADAMTS13 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.6 | ADAMTS13 | Eleanor Williams Gene: adamts13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.5 | ADAMTS13 |
Eleanor Williams commented on gene: ADAMTS13: Associated with Thrombotic thrombocytopenic purpura, hereditary #274150 (AR) in OMIM. After consultation with the Genomics England clinical team it was decided to add this gene as Amber and discuss with the GMS group at the next update. ADAMTS13 may be responsible for a mimic of aHUS, that might be difficult to distinguish clinically. Therefore it is possible that inclusion in a differential diagnosis capacity is relevant. |
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| Atypical haemolytic uraemic syndrome v2.5 | ADAMTS13 | Eleanor Williams changed review comment from: Consulting with the Genomics England clinical team as to whether to add this gene to the panel.; to: Consulting with the Genomics England clinical team as to whether to add this gene to the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.1 | ADAMTS13 | Eleanor Williams commented on gene: ADAMTS13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.1 | ADAMTS13 |
Zornitza Stark gene: ADAMTS13 was added gene: ADAMTS13 was added to Atypical haemolytic uraemic syndrome. Sources: Expert list Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial, MIM# 274150 Review for gene: ADAMTS13 was set to AMBER Added comment: It is difficult to know whether to include this gene on an aHUS panel; there is considerable overlap in the clinical features between TTP and HUS, and we have included it in ours. Sources: Expert list |
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