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Atypical haemolytic uraemic syndrome v2.5 CFHR5 Eleanor Williams Classified gene: CFHR5 as Amber List (moderate evidence)
Atypical haemolytic uraemic syndrome v2.5 CFHR5 Eleanor Williams Added comment: Comment on list classification: Changing rating from grey to amber. Some evidence to suggest that variants in CFHR5 may be associated with aHUS but there are not 3 clear cases with variants only found in that gene and segregation data, or functional data
Atypical haemolytic uraemic syndrome v2.5 CFHR5 Eleanor Williams Gene: cfhr5 has been classified as Amber List (Moderate Evidence).
Atypical haemolytic uraemic syndrome v2.4 CFHR5 Eleanor Williams Publications for gene: CFHR5 were set to 22622361
Atypical haemolytic uraemic syndrome v2.1 CFHR5 Eleanor Williams reviewed gene: CFHR5: Rating: AMBER; Mode of pathogenicity: None; Publications: 20513133, 22622361, 30905589, 29500241; Phenotypes: ; Mode of inheritance: None
Atypical haemolytic uraemic syndrome v2.1 CFHR5 Zornitza Stark gene: CFHR5 was added
gene: CFHR5 was added to Atypical haemolytic uraemic syndrome. Sources: Expert list
Mode of inheritance for gene: CFHR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CFHR5 were set to 22622361
Phenotypes for gene: CFHR5 were set to Nephropathy due to CFHR5 deficiency, MIM# 614809
Review for gene: CFHR5 was set to AMBER
Added comment: There is at least one paper specifically linking variants in this gene with aHUS, not quite sure where this gene belongs.
Sources: Expert list
Atypical haemolytic uraemic syndrome v1.9 CFHR4 David Kavanagh reviewed gene: CFHR4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Atypical haemolytic uraemic syndrome v1.7 CFHR1 Eleanor Williams reviewed gene: CFHR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Atypical haemolytic uraemic syndrome v1.7 CFH Eleanor Williams reviewed gene: CFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Atypical haemolytic uraemic syndrome v1.6 CFHR1 Eleanor Williams Source NHS GMS was added to CFHR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Atypical haemolytic uraemic syndrome v1.6 CFH Eleanor Williams Source NHS GMS was added to CFH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Atypical haemolytic uraemic syndrome CFH Sarah Leigh marked CFH as ready
Atypical haemolytic uraemic syndrome CFH Sarah Leigh commented on CFH
Atypical haemolytic uraemic syndrome CFHR1 Sarah Leigh marked CFHR1 as ready
Atypical haemolytic uraemic syndrome CFHR1 Sarah Leigh classified CFHR1 as green
Atypical haemolytic uraemic syndrome CFHR1 Sarah Leigh added CFHR1 to panel
Atypical haemolytic uraemic syndrome CFHR1 Sarah Leigh reviewed CFHR1
Atypical haemolytic uraemic syndrome CFHR3 Sarah Leigh classified CFHR3 as green
Atypical haemolytic uraemic syndrome CFHR3 Sarah Leigh marked CFHR3 as ready
Atypical haemolytic uraemic syndrome CFHR3 Sarah Leigh added CFHR3 to panel
Atypical haemolytic uraemic syndrome CFHR3 Sarah Leigh reviewed CFHR3