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Primary immunodeficiency

Gene: CFH

Green List (high evidence)

CFH (complement factor H)
EnsemblGeneIds (GRCh38): ENSG00000000971
EnsemblGeneIds (GRCh37): ENSG00000000971
OMIM: 134370, Gene2Phenotype
CFH is in 8 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): CFH .PanelApp HGNC gene symbol check: CFH . IUIS Disease: Factor H deficiency . IUIS Inheritance: AR or AD .T cells: Normal, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia, dense deposit disease. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A
Created: 2 Jul 2018, 10:35 a.m.
Comment on phenotypes: Homozygous factor H deficiency is rare, reported cases with Factor H deficiency classically presents with MPGN or other renal disease.It has also been associated with most inherited cases of HUS. Factor H deficiency has also been associated with increased susceptibility to infection in general (PMID:16499568)
Created: 8 Jun 2018, 4:43 p.m.
Comment on list classification: changed from Amber to Green
Created: 8 Jun 2018, 4:14 p.m.
Comment on publications: added publications to support immune dysfunction, more than three unrelated cases with Factor H deficiency caused by variants in CFH
Created: 8 Jun 2018, 4:11 p.m.
from OMIM : Complement factor H deficiency (CFHD) can manifest as several different phenotypes, including asymptomatic, recurrent bacterial infections, and renal failure. Laboratory features usually include decreased serum levels of factor H, complement component C3 and a decrease in other alternative pathway components, indicating activation of the alternative complement pathway. Homozygotes and heterozygotes may show increased susceptibility to meningococcal infections. In addition, a number of renal diseases have been associated with factor H defect or deficiency, including atypical hemolytic-uremic syndrome (aHUS), membranoproliferative glomerulonephritis type II (MPGN II), and nonspecific hematuria or nephritis.
Created: 8 Jun 2018, 3:58 p.m.
Comment on phenotypes: removed phenotypes not relevant to this panel
{Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400;{Macular degeneration, age-related, 4}, 610698;Basal laminar drusen, 126700
Created: 8 Jun 2018, 3:46 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: Factor H, PanelApp HGNC gene symbol check: CFH, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Complement deficiencies / Complement deficiency / Complement factor H deficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: CFH, GRID_Gene_Symbol: CFH, GRID_Transcript_ENS_Community submitted: ENST00000367429, GRID_Transcript_RefSeq: NM_000186.3, GRID_Transcript_ENS_used_on_Production: ENST00000367429
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BOTH monoallelic and 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 H deficiency, 609814
  • Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia, dense deposit disease
  • Complement Deficiencies
OMIM
134370
Clinvar variants
Variants in CFH
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 CFH.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to CFH.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to CFH.

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 CFH were set to Complement factor H deficiency, 609814, Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia, dense deposit disease, Complement Deficiencies

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

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

13 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

8 Jun 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CFH were set to Complement factor H deficiency, 609814

8 Jun 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CFH were set to 7742208; 9312129; 10803850; 2966809; 14978182; 16612335; 1701856; 24722444

8 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

8 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CFH were set to 7742208; 9312129; 10803850; 2966809; 14978182; 16612335; 17018561

8 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CFH were set to 7742208; 9312129

8 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CFH were set to Complement factor H deficiency, 609814

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to CFH. 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 CFH. Panel: Primary immunodeficiency disorders Phenotypes for gene CFH were set to {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400, Complement factor H deficiency, 609814, {Macular degeneration, age-related, 4}, 610698, Basal laminar drusen, 126700, Complement factor H deficiency

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene CFH were set to {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400, Complement factor H deficiency, 609814, {Macular degeneration, age-related, 4}, 610698, Basal laminar drusen, 126700, Complement factor H 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 CFH. Panel: Primary immunodeficiency disorders Model of inheritance for gene CFH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene CFH were set to {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400, Complement factor H deficiency, 609814, {Macular degeneration, age-related, 4}, 610698, Basal laminar drusen, 126700, Complement factor H deficiency

29 Mar 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

CFH 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)

CFH was created by Louise Daugherty