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  2. Complement Deficiencies
  3. CFHR4
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Complement Deficiencies

Gene: CFHR4

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

No Mendelian gene disease association I can find.
Created: 10 Apr 2020, 3:30 a.m. | Last Modified: 10 Apr 2020, 3:33 a.m.
Panel Version: 0.20

Phenotypes
Susceptibility to atypical haemolytic uraemic syndrome

Created: 10 Apr 2020, 3:30 a.m.
Last Modified: 10 Apr 2020, 3:33 a.m.
Panel version: 0.20

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
OMIM
605337
Clinvar variants
Variants in CFHR4
Penetrance
None
Panels with this gene

History Filter Activity

10 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfhr4 has been classified as Red List (Low Evidence).

10 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfhr4 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CFHR4 was added gene: CFHR4 was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CFHR4 was set to Unknown