Atypical haemolytic uraemic syndrome

Gene: CFB

Green List (high evidence)

CFB (complement factor B)
EnsemblGeneIds (GRCh38): ENSG00000243649
EnsemblGeneIds (GRCh37): ENSG00000243649
OMIM: 138470, Gene2Phenotype
CFB is in 9 panels

4 reviews

Eleanor Williams (Genomics England Curator)

I don't know

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.

Daniel Gale (UCL)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

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.

Tim Goodship (Newcastle University)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924
OMIM
138470
Clinvar variants
Variants in CFB
Penetrance
Complete
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

12 Feb 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to CFB. Rating Changed from Green List (high evidence) to Green List (high evidence)

17 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted 17/08/2016

16 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

16 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CFB were set to 17182750; 26826462; 19584399; 23307876

16 Aug 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CFB was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 Aug 2016, Gel status: 4

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

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

16 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

16 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CFB were set to Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CFB was added to Atypical haemolytic uraemic syndromepanel. Sources: Illumina TruGenome Clinical Sequencing Services

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CFB was created by ellenmcdonagh