Atypical haemolytic uraemic syndrome

Gene: CFI

Green List (high evidence)

CFI (complement factor I)
EnsemblGeneIds (GRCh38): ENSG00000205403
EnsemblGeneIds (GRCh37): ENSG00000205403
OMIM: 217030, Gene2Phenotype
CFI is in 8 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: CFI; Suggested initial gene rating: none provided;
Created: 12 Feb 2019, 12:40 p.m.

Tim Goodship (Newcastle University)

Green List (high evidence)

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

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

Daniel Gale (UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
aHUS

Publications

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

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least six variants reported
Created: 15 Aug 2016, 12:33 p.m.
Comment on phenotypes: Variants also reported in Complement factor I deficiency, 610984 and Macular degeneration, age-related, 13, susceptibility to, 615439
Created: 15 Aug 2016, 11:02 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923
OMIM
217030
Clinvar variants
Variants in CFI
Penetrance
Complete
Publications
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 CFI. 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

15 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).

15 Aug 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CFI were set to 16621965; 17597211; 15173250; 23685748

15 Aug 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CFI were set to Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923

15 Aug 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

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

29 Oct 2015, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene CFI were set to Complement factor I deficiency, 610984; {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923; {Macular degeneration, age-related, 13, susceptibility to}, 615439;Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1

29 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CFI was added to Atypical haemolytic uraemic syndromepanel. Source: UKGTN

29 Oct 2015, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

CFI was added to Atypical haemolytic uraemic syndromepanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene CFI was set to BIALLELIC, autosomal or pseudoautosomal

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CFI was added to Atypical haemolytic uraemic syndromepanel. Source: Radboud University Medical Center, Nijmegen

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CFI was created by ellenmcdonagh

29 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CFI was added to Atypical haemolytic uraemic syndromepanel. Sources: Eligibility statement prior genetic testing