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Atypical haemolytic uraemic syndrome v2.10 | CFB | Eleanor Williams Added comment: Comment on mode of inheritance: In OMIM this gene is also provisionally associated with Complement factor B deficiency based on evidence from one family with biallelic variants in CFB. However, given the phenotype/level of evidence it is not appropriate to change the mode of inheritance to Both monoallelic and biallelic on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Atypical haemolytic uraemic syndrome v2.10 | CFB | Eleanor Williams Mode of inheritance for gene: CFB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Atypical haemolytic uraemic syndrome v1.7 | CFB | Eleanor Williams reviewed gene: CFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Atypical haemolytic uraemic syndrome v1.6 | CFB |
Eleanor Williams Source NHS GMS was added to CFB. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Atypical haemolytic uraemic syndrome | CFB | Sarah Leigh marked CFB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Atypical haemolytic uraemic syndrome | CFB | Sarah Leigh classified CFB as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Atypical haemolytic uraemic syndrome | CFB | Sarah Leigh commented on CFB |