Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CFH
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
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/ACreated: 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 GreenCreated: 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 CFHCreated: 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, 126700Created: 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 deficiencyCreated: 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: ENST00000367429Created: 17 Apr 2018, 12:12 p.m.
Source NHS GMS was added to CFH.
Source North West GLH was added to CFH.
Source London North GLH was added to CFH.
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.
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
IUIS Classification February 2018 was added to CFH. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to CFH. Panel: Primary immunodeficiency disorders
Gene: cfh has been classified as Green List (High Evidence).
Phenotypes for gene: CFH were set to Complement factor H deficiency, 609814
Publications for gene: CFH were set to 7742208; 9312129; 10803850; 2966809; 14978182; 16612335; 1701856; 24722444
Gene: cfh has been classified as Green List (High Evidence).
Publications for gene: CFH were set to 7742208; 9312129; 10803850; 2966809; 14978182; 16612335; 17018561
Publications for gene: CFH were set to 7742208; 9312129
Phenotypes for gene: CFH were set to Complement factor H deficiency, 609814
Expert Review Amber was added to CFH. Panel: Primary immunodeficiency disorders
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
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
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
CFH was added to Primary immunodeficiency disorders panel. Sources: Expert Review Red, Inherited complement deficiency v0.11
CFH was created by Louise Daugherty