Atypical haemolytic uraemic syndrome
Gene: ADAMTS13Associated 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.Created: 21 Mar 2020, 6:12 p.m. | Last Modified: 21 Mar 2020, 6:12 p.m.
Panel Version: 2.5
Consulting with the Genomics England clinical team as to whether to add this gene to the panel.Created: 29 Jan 2020, 2:32 p.m. | Last Modified: 21 Mar 2020, 5:49 p.m.
Panel Version: 2.5
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 listCreated: 9 Jan 2020, 4:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thrombotic thrombocytopenic purpura, familial, MIM# 274150
Tag to_be_confirmed_NHSE tag was added to gene: ADAMTS13.
Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, MIM# 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Tag for-review tag was added to gene: ADAMTS13.
Publications for gene: ADAMTS13 were set to
Gene: adamts13 has been classified as Amber List (Moderate Evidence).
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