Atypical haemolytic uraemic syndrome
Gene: CFHR4

CFHR4 (complement factor H related 4)
EnsemblGeneIds (GRCh38): ENSG00000134365
EnsemblGeneIds (GRCh37): ENSG00000134365
OMIM: 605337, Gene2Phenotype
CFHR4 is in 3 panels

2 reviews

David Kavanagh (Newcastle upon Tyne NHS hospitals trust)

Red List (low evidence)

No current definitive evidence for a direct causative role in aHUS
Possible associated with generation of autoantibodies to factor H (in the setting of deletions on CFHR1,3 and 4)
Created: 6 Aug 2019, 9:59 a.m. | Last Modified: 6 Aug 2019, 9:59 a.m.

Panel Version: 1.9

Mode of inheritance
Unknown

Created: 6 Aug 2019, 9:59 a.m.
Last Modified: 6 Aug 2019, 9:59 a.m.
Panel version: 1.9

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

added gene from Primary Immunity Disorder panel review- the phenotype is better suited to the atypical haemolytic uraemic syndrome panel
Created: 8 Jun 2018, 3:02 p.m.

Mode of inheritance
Unknown

Phenotypes
Age related macular degeneration; Atypical hemolytic uremic syndrome susceptibility

Publications

Created: 8 Jun 2018, 3:02 p.m.

Panel version: 1.3

Details

Mode of Inheritance

Unknown

Sources

Other

Phenotypes

Age related macular degeneration
Atypical hemolytic uremic syndrome susceptibility

OMIM

605337

Clinvar variants

Variants in CFHR4

Penetrance

None

Publications

Panels with this gene

History Filter Activity

8 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

CFHR4 was added to Atypical haemolytic uraemic syndrome panel. Sources: Other

8 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

CFHR4 was created by Louise Daugherty

Atypical haemolytic uraemic syndrome Gene: CFHR4