Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Atypical haemolytic uraemic syndrome v1.20 THBD Eleanor Williams Phenotypes for gene: THBD were changed from Hemolytic uremic syndrome, atypical, susceptibility to, 6, 612926 to Hemolytic uremic syndrome, atypical, susceptibility to, 6, 612926; Thrombophilia due to thrombomodulin defect 614486
Atypical haemolytic uraemic syndrome v1.9 THBD David Kavanagh reviewed gene: THBD: Rating: RED; Mode of pathogenicity: None; Publications: 19625716; Phenotypes: Thrombophilia due to thrombomodulin defect MIM614486, aHUS MIMN 612926; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atypical haemolytic uraemic syndrome v1.7 THBD Eleanor Williams commented on gene: THBD: THBD was discussed on the NHS GMS renal specialist group call on 2019-02-04. It was decided that this gene should remain red on the panel.
Atypical haemolytic uraemic syndrome v1.7 THBD Eleanor Williams reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Atypical haemolytic uraemic syndrome v1.6 THBD Eleanor Williams Source NHS GMS was added to THBD.
Atypical haemolytic uraemic syndrome THBD Louise Daugherty reviewed gene: THBD
Atypical haemolytic uraemic syndrome THBD Sarah Leigh marked THBD as ready
Atypical haemolytic uraemic syndrome THBD Sarah Leigh classified THBD as red
Atypical haemolytic uraemic syndrome THBD Sarah Leigh edited their review of THBD
Atypical haemolytic uraemic syndrome THBD Sarah Leigh commented on THBD