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Primary immunodeficiency

Gene: CFI

Green List (high evidence)

CFI (complement factor I)
EnsemblGeneIds (GRCh38): ENSG00000205403
EnsemblGeneIds (GRCh37): ENSG00000205403
OMIM: 217030, Gene2Phenotype
CFI is in 7 panels

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CFI .PanelApp HGNC gene symbol check: CFI . IUIS Disease: Factor I deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed from Amber to Green. The absence of Factor I leads to a continuous consumption of C3 due to an uncontrolled amplification of C3 cleavage, resulting in an acquired C3-deficiency state. Complete Factor I deficiency has been reported in at least 40 cases, with 16 mutations being described (PMID: 19065647, 21316765, 22710145, 24142231, 25988862 )
Created: 7 Jun 2018, 2:55 p.m.
Comment on publications: Added publications to support immune dysfunction.
Created: 7 Jun 2018, 2:45 p.m.
Hereditary deficiency of complement factor I is associated with a propensity to pyogenic infection and follows an autosomal recessive pattern of inheritance PMID:8613545
Created: 7 Jun 2018, 1:54 p.m.
Hereditary deficiency of complement factor I is associated with a propensity to pyogenic infection and follows an autosomal recessive pattern of inheritance PMID:8613545
Created: 7 Jun 2018, 1:54 p.m.
This gene was present in the original PanelApp PID panel dataset (review in April 2018) rated as Red. The gene is present in the external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: C3b inactivator, PanelApp HGNC gene symbol check: CFI, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Complement deficiencies / Complement deficiency / C3b inactivator deficiency; Complement deficiencies / Complement deficiency / Factor I deficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: CFI, GRID_Gene_Symbol: CFI, GRID_Transcript_ENS_Community submitted: ENST00000394634, GRID_Transcript_RefSeq: NM_000204.3, GRID_Transcript_ENS_used_on_Production: ENST00000394634
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • Inherited complement deficiency v0.11
Phenotypes
  • Complement factor I deficiency, 610984
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923
  • {Macular degeneration, age-related, 13, susceptibility to}, 615439
  • Complement factor I deficiency
  • C3b inactivator deficiency
  • Factor I deficiency
  • Immunodeficiency with factor I anomaly
  • Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia
  • Complement Deficiencies
OMIM
217030
Clinvar variants
Variants in CFI
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CFI.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to CFI.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to CFI.

12 Jul 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (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, Complement factor I deficiency, C3b inactivator deficiency, Factor I deficiency, Immunodeficiency with factor I anomaly, Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia, Complement Deficiencies

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to CFI. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to CFI. Panel: Primary immunodeficiency disorders

13 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cfi has been classified as Green List (High Evidence).

7 Jun 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CFI were set to 8613545; 3897024; 12562389; 8613545; 27091480; 25988862; 22710145; 21316765; 18374984; 19065647; 22710145; 24142231

7 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cfi has been classified as Green List (High Evidence).

7 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CFI were set to 8613545; 3897024; 12562389; 8613545; 27091480; 25988862; 22710145; 21316765; 18374984

7 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (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; Complement factor I deficiency; C3b inactivator deficiency; Factor I deficiency; Immunodeficiency with factor I anomaly

7 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CFI were set to 8613545; 3897024; 12562389; 8613545; 27091480

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to CFI. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to CFI. Panel: Primary immunodeficiency disorders 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, Complement factor I deficiency, C3b inactivator deficiency, Factor I deficiency

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (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, Complement factor I deficiency

17 Apr 2018, Gel status: 1

Added New Source, Set mode of inheritance, Set penetrance

Louise Daugherty (Genomics England Curator)

GRID V2.0 was added to CFI. Panel: Primary immunodeficiency disorders Model of inheritance for gene CFI was set to BIALLELIC, autosomal or pseudoautosomal 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, Complement factor I deficiency

29 Mar 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

CFI was added to Primary immunodeficiency disorders panel. Sources: Expert Review Red, Inherited complement deficiency v0.11

29 Mar 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

CFI was created by Louise Daugherty