Atypical haemolytic uraemic syndrome

Gene: CFB

I don't know

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.

Created: 14 Oct 2021, 11:09 a.m. | Last Modified: 14 Oct 2021, 11:09 a.m.

Panel Version: 2.10

This gene was part of an initial gene list collated by Valerie Wilson, The National Renal Complement Therapeutics Centre, February 2019 on behalf of Yorkshire and North East GLH for the GMS Renal Specialist Test Group; Gene Symbol submitted: CFB; Suggested initial gene rating: none provided;

Created: 12 Feb 2019, 12:40 p.m.

Green List (high evidence)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least five GOF variants reported

Created: 16 Aug 2016, 8:37 a.m.

Comment on mode of inheritance: Incomplete penetrance and variants in other complement pathway genes may be present

Created: 16 Aug 2016, 8:32 a.m.

Comment on mode of pathogenicity: Gain of function

Created: 16 Aug 2016, 8:32 a.m.

Comment on phenotypes: Variants also reported in Complement factor B deficiency 615561 and Macular degeneration, age-related, 14, reduced risk of 615489

Created: 16 Aug 2016, 7:40 a.m.

Green List (high evidence)

Gain of function variants

Created: 15 Dec 2015, 3:03 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice