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Primary immunodeficiency

Gene: CFHR1

Amber List (moderate evidence)

CFHR1 (complement factor H related 1)
EnsemblGeneIds (GRCh38): ENSG00000244414
EnsemblGeneIds (GRCh37): ENSG00000244414
OMIM: 134371, Gene2Phenotype
CFHR1 is in 6 panels

2 reviews

Sophie Hambleton (Newcastle University)

I don't know

Agree belongs in aHUS panel (although many would argue this is a prima facie immune problem!)
Created: 29 Jun 2018, 1:33 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

After internal and external review, it was agreed this gene should remain Amber, the gene is Green on the atypical haemolytic uraemic syndrome panel
Created: 3 Jul 2018, 9:15 a.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CFHR1-5 .PanelApp HGNC gene symbol check: CFHR1 . IUIS Disease: Factor H -related protein deficiencies . IUIS Inheritance: AR or AD .T cells: Decreased, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A
Created: 2 Jul 2018, 10:35 a.m.
After internal clinical review it was agreed that the phenotype is better suited to the atypical haemolytic uraemic syndrome panel
Created: 8 Jun 2018, 1:53 p.m.
For internal clinical review- Not sure if s CFHR1 sequence variants that are risk factors for the development of susceptibility to atypical Hemolytic-uremic syndrome is relevant to this panel
Created: 8 Jun 2018, 1:15 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in 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 supplied by GRID. GRID Gene Symbol HGNC PanelApp check: CFHR1, GRID_Gene_Symbol: CFHR1, GRID_Transcript_ENS_Community submitted: ENST00000320493, GRID_Transcript_RefSeq: NM_002113.2, GRID_Transcript_ENS_used_on_Production: ENST00000320493
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • Expert Review Amber
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections
  • Age related macular degeneration
  • Complement Deficiencies
  • Atypical hemolytic uremic syndrome susceptibility
OMIM
134371
Clinvar variants
Variants in CFHR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to CFHR1. Added phenotypes Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections for gene: CFHR1 Publications for gene CFHR1 were updated from to 32048120; 32086639

12 Jul 2018, Gel status: 2

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.

3 Jul 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CFHR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 Jul 2018, Gel status: 2

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene CFHR1 were set to Age related macular degeneration, Atypical hemolytic uremic syndrome susceptibility, Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections, Complement Deficiencies

27 Jun 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cfhr1 has been classified as Amber List (Moderate Evidence).

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to CFHR1. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to CFHR1. Panel: Primary immunodeficiency disorders

20 Apr 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CFHR1 were set to Age related macular degeneration; Atypical hemolytic uremic syndrome susceptibility

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to CFHR1. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene CFHR1 were set to Age related macular degeneration, Atypical hemolytic uremic syndrome susceptibility, Atypical hemolytic uremic syndrome susceptibility

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

CFHR1 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

CFHR1 was created by Louise Daugherty