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STRs in panel
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COVID-19 research

Gene: CFHR4

Green List (high evidence)

CFHR4 (complement factor H related 4)
EnsemblGeneIds (GRCh38): ENSG00000134365
EnsemblGeneIds (GRCh37): ENSG00000134365
OMIM: 605337, Gene2Phenotype
CFHR4 is in 4 panels

2 reviews

Sophie Hambleton (Newcastle University)

I don't know

Agree re aHUS panel
Created: 29 Jun 2018, 1:34 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 on the atypical haemolytic uraemic syndrome panel, currently rated as Red
Created: 3 Jul 2018, 9:22 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: CFHR4 . IUIS Disease: Factor H -related protein deficiencies . IUIS Inheritance: AR or AD .T cells: N/A, .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, 1:54 p.m.
For internal clinical review- Not sure if s CFHR4 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, 1:04 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: CFHR4, GRID_Gene_Symbol: CFHR4, GRID_Transcript_ENS_Community submitted: ENST00000367416, GRID_Transcript_RefSeq: NM_001201551.1, GRID_Transcript_ENS_used_on_Production: ENST00000367416
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
Phenotypes
  • Complement Deficiencies
  • Age related macular degeneration
  • Atypical hemolytic uremic syndrome susceptibility
  • Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections
OMIM
605337
Clinvar variants
Variants in CFHR4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to CFHR4. Added phenotypes Complement Deficiencies; Age related macular degeneration; Atypical hemolytic uremic syndrome susceptibility; Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections for gene: CFHR4 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CFHR4 was added gene: CFHR4 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: CFHR4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CFHR4 were set to 32086639; 32048120 Phenotypes for gene: CFHR4 were set to Complement Deficiencies; Age related macular degeneration; Atypical hemolytic uremic syndrome susceptibility; Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections